Temat: "Craniofacial" - Prolib Integro

Skocz do pozycji: 1 1.

Tytuł :: Craniofacial anomalies in a murine model of heterozygous fibroblast growth factor 10 gene mutation.
Autorzy :: Tan J; Adelaide Dental School, The University of Adelaide, Adelaide, South Australia, Australia.
Jones MLM; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; F. Douglas Stephens Surgical Research Laboratory, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Teague WJ; Department of Paediatrics, The University of Melbourne, Melbourne, Victoria, Australia.; F. Douglas Stephens Surgical Research Laboratory, Murdoch Children's Research Institute, Melbourne, Victoria, Australia.
Ranjitkar S; Adelaide Dental School, The University of Adelaide, Adelaide, South Australia, Australia.
Anderson PJ; Adelaide Dental School, The University of Adelaide, Adelaide, South Australia, Australia.; Cleft and Craniofacial SA, Women's and Children's Hospital, North Adelaide, South Australia, Australia.; South Australian Health and Medical Research Institute (SAHMRI), Adelaide, South Australia, Australia.; Pokaż więcej
Źródło :: Orthodontics & craniofacial research [Orthod Craniofac Res] 2024 Feb; Vol. 27 (1), pp. 84-94. Date of Electronic Publication: 2023 Jul 14.
Typ publikacji :: Journal Article
MeSH Terms :: Cleft Palate*/genetics
Craniofacial Abnormalities*/diagnostic imaging
Craniofacial Abnormalities*/genetics
Craniosynostoses*/genetics
Mice ; Male ; Female ; Animals ; X-Ray Microtomography ; Fibroblast Growth Factor 10/genetics ; Disease Models, Animal ; Mutation/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 2 2.

Tytuł :: Increasing histone acetylation improves sociability and restores learning and memory in KAT6B-haploinsufficient mice.
Autorzy :: Bergamasco MI; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Vanyai HK; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Garnham AL; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Geoghegan ND; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Vogel AP; Centre for Neurosciences of Speech, University of Melbourne, Parkville, Victoria, Australia.; Redenlab Inc., Melbourne, Australia.
Eccles S; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Rogers KL; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Smyth GK; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; School of Mathematics and Statistics, University of Melbourne, Parkville, Victoria, Australia.
Blewitt ME; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Hannan AJ; Florey Institute of Neuroscience and Mental Health, Melbourne, Victoria, Australia.; Department of Anatomy and Physiology, University of Melbourne, Parkville, Victoria, Australia.
Thomas T; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.
Voss AK; The Walter and Eliza Hall Institute of Medical Research, Melbourne, Victoria, Australia.; Department of Medical Biology and.; Pokaż więcej
Źródło :: The Journal of clinical investigation [J Clin Invest] 2024 Apr 01; Vol. 134 (7). Date of Electronic Publication: 2024 Apr 01.
Typ publikacji :: Journal Article
MeSH Terms :: Abnormalities, Multiple*/drug therapy
Abnormalities, Multiple*/genetics
Acetylcarnitine*/pharmacology
Acetylcarnitine*/therapeutic use
Congenital Hypothyroidism*
Craniofacial Abnormalities*/drug therapy
Craniofacial Abnormalities*/genetics
Histone Acetyltransferases*/antagonists & inhibitors
Histone Acetyltransferases*/genetics
Histone Acetyltransferases*/metabolism
Intellectual Disability*/drug therapy
Intellectual Disability*/genetics
Joint Instability*
Animals ; Humans ; Mice ; Acetylation ; Blepharophimosis ; Chromatin ; Exons ; Facies ; Heart Defects, Congenital ; Histones/genetics
SCR Disease Name :: Young Simpson syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 3 3.

Tytuł :: Floating-Harbor syndrome with chorioretinal colobomas.
Autorzy :: Alanis S; Retina Consultants, Ltd, Des Plaines, Illinois, USA.
Blair MP; Retina Consultants, Ltd, Des Plaines, Illinois, USA.
Kaufman LM; Department of Ophthalmology & Visual Sciences, University of Illinois at Chicago, Chicago, Illinois, USA.
Bhat G; University of Illinois Hospital Health & Science Center, Chicago, Illinois, USA.
Shapiro MJ; Retina Consultants, Ltd, Des Plaines, Illinois, USA.; Pokaż więcej
Źródło :: Ophthalmic genetics [Ophthalmic Genet] 2024 Apr; Vol. 45 (2), pp. 207-209. Date of Electronic Publication: 2023 Sep 18.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Coloboma*/diagnosis
Coloboma*/genetics
Abnormalities, Multiple*/genetics
Abnormalities, Multiple*/diagnosis
Craniofacial Abnormalities*/diagnosis
Craniofacial Abnormalities*/genetics
Heart Septal Defects, Ventricular*
Humans ; Child ; Growth Disorders/diagnosis ; Growth Disorders/genetics
SCR Disease Name :: Floating-harbor syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 4 4.

Tytuł :: Is There a Role for Comfort Care in Neonates With Severe Craniofacial Anomalies? Case Report and Review of Quality-of-Life Literature.
Autorzy :: Ferraro JJ; Rush University Medical Center, Chicago, IL, USA.
Jeffe JS; Rush University Medical Center, Chicago, IL, USA.
Seu MY; Rush University Medical Center, Chicago, IL, USA.
Aminzada A; Rush University Medical Center, Chicago, IL, USA.
Tragos C; Rush University Medical Center, Chicago, IL, USA.; Pokaż więcej
Źródło :: The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association [Cleft Palate Craniofac J] 2024 Apr; Vol. 61 (4), pp. 717-722. Date of Electronic Publication: 2022 Nov 16.
Typ publikacji :: Review; Case Reports; Journal Article
MeSH Terms :: Quality of Life*
Craniofacial Abnormalities*/therapy
Infant, Newborn ; Humans ; Patient Comfort
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 5 5.

Tytuł :: Identification of potential molecular mechanism related to craniofacial dysmorphism caused by FOXI3 deficiency.
Autorzy :: Xing XL; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.; Hunan Provincial Key Laboratory for Synthetic Biology of Traditional Chinese Medicine, Hunan University of Medicine, Changsha, China.
Zeng Z; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.; Hunan Provincial Key Laboratory for Synthetic Biology of Traditional Chinese Medicine, Hunan University of Medicine, Changsha, China.
Wang Y; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.
Pan B; Department of Auricular Reconstruction, Plastic Surgery Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, China.
Huang X; School of Basic Medicine, Ningxia Medical University, Yinchuan, Ningxia, China.; Hunan Provincial Key Laboratory for Synthetic Biology of Traditional Chinese Medicine, Hunan University of Medicine, Changsha, China.; Pokaż więcej
Źródło :: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Mar; Vol. 12 (3), pp. e2411.
Typ publikacji :: Journal Article
MeSH Terms :: Craniofacial Abnormalities*/genetics
Musculoskeletal Abnormalities*
Animals ; Mice ; Computational Biology ; Phosphatidylinositol 3-Kinases ; Proto-Oncogene Proteins c-akt/genetics
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 6 6.

Tytuł :: Association of cranial base suture/synchondrosis fusion with severity of increased intracranial pressure in Crouzon syndrome.
Autorzy :: Lee ES; Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Republic of Korea.
Lee SH; Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Republic of Korea.
Han SW; Department of Plastic and Reconstructive Surgery, Wonju Severance Christian Hospital, Yonsei University Wonju College of Medicine, Republic of Korea.
Kim YO; Department of Plastic and Reconstructive Surgery, Institute for Human Tissue Restoration, Yonsei University College of Medicine, Republic of Korea. Electronic address: .
Lim SY; Department of Plastic Surgery, Samsung Medical Center, Sungkyunkwan University School of Medicine, Republic of Korea. Electronic address: .; Pokaż więcej
Źródło :: Journal of cranio-maxillo-facial surgery : official publication of the European Association for Cranio-Maxillo-Facial Surgery [J Craniomaxillofac Surg] 2024 Mar; Vol. 52 (3), pp. 385-392. Date of Electronic Publication: 2024 Feb 05.
Typ publikacji :: Journal Article
MeSH Terms :: Craniofacial Dysostosis*/diagnostic imaging
Craniofacial Dysostosis*/surgery
Craniosynostoses*/complications
Craniosynostoses*/diagnostic imaging
Craniosynostoses*/surgery
Humans ; Retrospective Studies ; Intracranial Pressure ; Cranial Sutures/diagnostic imaging ; Cranial Sutures/surgery ; Skull Base/diagnostic imaging ; Skull Base/surgery ; Sutures
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 7 7.

Tytuł :: BTB domain mutations perturbing KCTD15 oligomerisation cause a distinctive frontonasal dysplasia syndrome.
Autorzy :: Miller KA; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Cruz Walma DA; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Cell Biology Section, National Institute of Dental and Craniofacial Research, National Institutes of Health, Bethesda, Maryland, USA.
Pinkas DM; Centre for Medicines Discovery, University of Oxford, Oxford, UK.; Department of Biological Sciences, Universidad Loyola Andalucía, Seville, Spain.
Tooze RS; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Bufton JC; Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Richardson W; Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Manning CE; Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Hunt AE; Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Cros J; Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Hartill V; Leeds Institute of Medical Research, University of Leeds, Leeds, UK.; Yorkshire Regional Genetics Service, Leeds Teaching Hospitals NHS Trust, Chapel Allerton Hospital, Leeds, UK.
Parker MJ; Sheffield Clinical Genomics Service, Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK.
McGowan SJ; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Twigg SRF; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.
Chalk R; Centre for Medicines Discovery, University of Oxford, Oxford, UK.
Staunton D; Department of Biochemistry, University of Oxford, Oxford, UK.
Johnson D; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Wilkie AOM; MRC Weatherall Institute of Molecular Medicine, University of Oxford, Oxford, UK.; Craniofacial Unit, Oxford University Hospitals NHS Foundation Trust, Oxford, UK.
Bullock AN; Centre for Medicines Discovery, University of Oxford, Oxford, UK .; Pokaż więcej
Źródło :: Journal of medical genetics [J Med Genet] 2024 Apr 19; Vol. 61 (5), pp. 490-501. Date of Electronic Publication: 2024 Apr 19.
Typ publikacji :: Journal Article
MeSH Terms :: BTB-POZ Domain*
Craniofacial Abnormalities*/genetics
Abnormalities, Multiple*
Ectodermal Dysplasia*
Face/*abnormalities
Humans ; Mutation ; Mutation, Missense/genetics ; Syndrome ; Co-Repressor Proteins/genetics
SCR Disease Name :: Frontonasal dysplasia
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 8 8.

Tytuł :: Epigenetic regulation of H3K27me3 in laying hens with fatty liver hemorrhagic syndrome induced by high-energy and low-protein diets.
Autorzy :: Cui Y; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Ru M; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Wang Y; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Weng L; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Haji RA; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Liang H; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Zeng Q; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Wei Q; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Xie X; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Yin C; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China.
Huang J; College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang, 330045, China. .; Pokaż więcej
Źródło :: BMC genomics [BMC Genomics] 2024 Apr 16; Vol. 25 (1), pp. 374. Date of Electronic Publication: 2024 Apr 16.
Typ publikacji :: Journal Article
MeSH Terms :: Diet, Protein-Restricted*
Fatty Liver*/genetics
Fatty Liver*/veterinary
Abnormalities, Multiple*
Growth Disorders*
Heart Septal Defects, Ventricular*
Craniofacial Abnormalities*
Animals ; Female ; Histones/metabolism ; Chickens/genetics ; Chickens/metabolism ; Epigenesis, Genetic ; Hemorrhage/genetics ; Transcriptome
SCR Disease Name :: Floating-harbor syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 9 9.

Tytuł :: [Modified Z-plasty repair for congenital midline cervical cleft in a child].
Autorzy :: Qian EL; Department of Otorhinolaryngology Head and Neck Surgery, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.
Duan QC; Department of Otorhinolaryngology Head and Neck Surgery, Beijing Children's Hospital, Capital Medical University National Center for Children's Health, Beijing 100045, China.
Yang WG; Department of Otorhinolaryngology Head and Neck Surgery, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.
Liu LY; Department of Otorhinolaryngology Head and Neck Surgery, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.
Ren HB; Department of Otorhinolaryngology Head and Neck Surgery, Children's Hospital Affiliated to Zhengzhou University, Henan Children's Hospital, Zhengzhou Children's Hospital, Zhengzhou 450018, China.; Pokaż więcej
Źródło :: Zhonghua er bi yan hou tou jing wai ke za zhi = Chinese journal of otorhinolaryngology head and neck surgery [Zhonghua Er Bi Yan Hou Tou Jing Wai Ke Za Zhi] 2024 Apr 07; Vol. 59 (4), pp. 379-382.
Typ publikacji :: Journal Article
MeSH Terms :: Plastic Surgery Procedures*
Skin Abnormalities*/surgery
Craniofacial Abnormalities*/surgery
Cleft Palate*/surgery
Nervous System Malformations*
Brain Stem/*abnormalities
Child ; Humans
SCR Disease Name :: Midline brainstem cleft
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 10 10.

Tytuł :: Biosynthesis of Hesperetin, Homoeriodictyol, and Homohesperetin in a Transcriptomics-Driven Engineered Strain of Streptomyces albidoflavus .
Autorzy :: Pérez-Valero Á; Research Group BIONUC (Biotechnology of Nutraceuticals and Bioactive Compounds), Area of Microbiology, Department of Functional Biology, University of Oviedo, 33006 Oviedo, Principality of Asturias, Spain.; Instituto Universitario de Oncología del Principado de Asturias (IUOPA), 33006 Oviedo, Principality of Asturias, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33006 Oviedo, Principality of Asturias, Spain.
Serna-Diestro J; Research Group BIONUC (Biotechnology of Nutraceuticals and Bioactive Compounds), Area of Microbiology, Department of Functional Biology, University of Oviedo, 33006 Oviedo, Principality of Asturias, Spain.; Instituto Universitario de Oncología del Principado de Asturias (IUOPA), 33006 Oviedo, Principality of Asturias, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33006 Oviedo, Principality of Asturias, Spain.
Tafur Rangel A; Department of Biology and Biological Engineering, Chalmers University of Technology, SE-412 96 Gothenburg, Sweden.; Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, DK-2800 Kongens Lyngby, Denmark.
Barbuto Ferraiuolo S; Section of Biotechnology and Molecular Biology, Department of Experimental Medicine, University of Campania 'Luigi Vanvitelli', Via De Crecchio 7, 80138 Naples, Italy.
Schiraldi C; Section of Biotechnology and Molecular Biology, Department of Experimental Medicine, University of Campania 'Luigi Vanvitelli', Via De Crecchio 7, 80138 Naples, Italy.
Kerkhoven EJ; Department of Biology and Biological Engineering, Chalmers University of Technology, SE-412 96 Gothenburg, Sweden.; Novo Nordisk Foundation Center for Biosustainability, Technical University of Denmark, DK-2800 Kongens Lyngby, Denmark.; SciLifeLab, Chalmers University of Technology, SE-412 96 Gothenburg, Sweden.
Villar CJ; Research Group BIONUC (Biotechnology of Nutraceuticals and Bioactive Compounds), Area of Microbiology, Department of Functional Biology, University of Oviedo, 33006 Oviedo, Principality of Asturias, Spain.; Instituto Universitario de Oncología del Principado de Asturias (IUOPA), 33006 Oviedo, Principality of Asturias, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33006 Oviedo, Principality of Asturias, Spain.
Lombó F; Research Group BIONUC (Biotechnology of Nutraceuticals and Bioactive Compounds), Area of Microbiology, Department of Functional Biology, University of Oviedo, 33006 Oviedo, Principality of Asturias, Spain.; Instituto Universitario de Oncología del Principado de Asturias (IUOPA), 33006 Oviedo, Principality of Asturias, Spain.; Instituto de Investigación Sanitaria del Principado de Asturias (ISPA), 33006 Oviedo, Principality of Asturias, Spain.; Pokaż więcej
Źródło :: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 05; Vol. 25 (7). Date of Electronic Publication: 2024 Apr 05.
Typ publikacji :: Journal Article
MeSH Terms :: Flavonoids*
Gene Expression Profiling*
Hesperidin*
Streptomyces*
Craniofacial Abnormalities*
Flavones*
Amino Acids ; Tyrosine
SCR Disease Name :: Preauricular Fistulae, Congenital
: Czasopismo naukowe

Szczegóły Pełny tekst Pełny tekst

Skocz do pozycji: 11 11.

Tytuł :: A case report of Hennekam syndrome with a mutation in the CCBE1 gene.
Autorzy :: Durak T; Department of Medical Genetics, Faculty of Medicine, Pamukkale University, Denizli, Turkey.
Karaer D
Karaer K; Pokaż więcej
Źródło :: Clinical dysmorphology [Clin Dysmorphol] 2024 Apr 01; Vol. 33 (2), pp. 87-89. Date of Electronic Publication: 2024 Feb 28.
Typ publikacji :: Case Reports; Journal Article
MeSH Terms :: Craniofacial Abnormalities*
Lymphangiectasis, Intestinal*
Lymphedema*
Humans ; Mutation ; Calcium-Binding Proteins ; Tumor Suppressor Proteins
SCR Disease Name :: Hennekam lymphangiectasia lymphedema syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 12 12.

Tytuł :: Sodium butyrate alleviates free fatty acid-induced steatosis in primary chicken hepatocytes via the AMPK/PPARα pathway.
Autorzy :: Ding J; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Liu J; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Chen J; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Cheng X; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Cao H; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Guo X; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Hu G; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China.
Zhuang Y; Jiangxi Provincial Key Laboratory for Animal Health, Institute of Animal Population Health, College of Animal Science and Technology, Jiangxi Agricultural University, Nanchang 330045, Jiangxi, PR China. Electronic address: .; Pokaż więcej
Źródło :: Poultry science [Poult Sci] 2024 Apr; Vol. 103 (4), pp. 103482. Date of Electronic Publication: 2024 Jan 24.
Typ publikacji :: Journal Article
MeSH Terms :: PPAR alpha*/genetics
PPAR alpha*/metabolism
PPAR alpha*/pharmacology
Fatty Liver*/chemically induced
Fatty Liver*/drug therapy
Fatty Liver*/veterinary
Abnormalities, Multiple*
Growth Disorders*
Heart Septal Defects, Ventricular*
Craniofacial Abnormalities*
Animals ; Female ; Chickens/genetics ; Fatty Acids, Nonesterified/metabolism ; AMP-Activated Protein Kinases/metabolism ; Butyric Acid/pharmacology ; Butyric Acid/metabolism ; Liver/metabolism ; Hepatocytes ; Lipid Metabolism ; RNA, Messenger/metabolism ; Fatty Acids/metabolism
SCR Disease Name :: Floating-harbor syndrome
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 13 13.

Tytuł :: Designing custom three-dimensional printed eyeglasses for children with frontonasal abnormalities: addressing challenges in access and fit.
Autorzy :: Sechrist S; School of Medicine, University of California San Francisco, San Francisco, California.
Meer E; Department of Ophthalmology, University of California-San Francisco, San Francisco, California.
Brodie FL; Department of Ophthalmology, University of California-San Francisco, San Francisco, California.
de Alba Campomanes AG; Department of Ophthalmology, University of California-San Francisco, San Francisco, California. Electronic address: .; Pokaż więcej
Źródło :: Journal of AAPOS : the official publication of the American Association for Pediatric Ophthalmology and Strabismus [J AAPOS] 2024 Apr; Vol. 28 (2), pp. 103833. Date of Electronic Publication: 2024 Feb 13.
Typ publikacji :: Case Reports
MeSH Terms :: Eyeglasses*
Craniofacial Abnormalities*/therapy
Child ; Humans ; Face
: Raport

Szczegóły

Skocz do pozycji: 14 14.

Tytuł :: A rare skeletal dysplasia in the etiology of severe scoliosis: Diaphanospondylodysostosis.
Autorzy :: Daşar T; Hacettepe University, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey. Electronic address: .
Yıldız AE; Hacettepe University, Department of Radiology, Ankara, Turkey.
Demirkıran G; Hacettepe University, Department of Orthopedics, Ankara, Turkey.
Utine GE; Hacettepe University, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey.
Şimşek Kiper PÖ; Hacettepe University, Department of Pediatrics, Division of Pediatric Genetics, Ankara, Turkey.; Pokaż więcej
Źródło :: European journal of medical genetics [Eur J Med Genet] 2024 Apr; Vol. 68, pp. 104924. Date of Electronic Publication: 2024 Feb 12.
Typ publikacji :: Case Reports
MeSH Terms :: Scoliosis*/diagnostic imaging
Scoliosis*/genetics
Dysostoses*/diagnostic imaging
Dysostoses*/genetics
Osteochondrodysplasias*
Craniofacial Abnormalities*
Spine/*abnormalities
Ribs/*abnormalities
Female ; Humans ; Adolescent ; Spine/diagnostic imaging ; Ribs/diagnostic imaging ; Carrier Proteins
SCR Disease Name :: Diaphanospondylodysostosis
: Raport

Szczegóły

Skocz do pozycji: 15 15.

Tytuł :: Genetic association and functional validation of ZFP36L2 in non-syndromic orofacial cleft subtypes.
Autorzy :: Sun J; State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of cleft lip and palate, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, Sichuan, China.
Li M; State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of cleft lip and palate, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, Sichuan, China.; Stomatology Hospital, School of Stomatology, Zhejiang University School of Medicine, Zhejiang Provincial Clinical Research Center for Oral Diseases, Key Laboratory of Oral Biomedical Research of Zhejiang Province, Cancer Center of Zhejiang University, Engineering Research Center of Oral Biomaterials and Devices of Zhejiang Province, Hangzhou, 310000, China.
Sun H; SCU-CUHK Joint Laboratory for Reproductive Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Lin Z; SCU-CUHK Joint Laboratory for Reproductive Medicine, Key Laboratory of Birth Defects and Related Diseases of Women and Children (Sichuan University), Ministry of Education, Department of Pediatrics, West China Second University Hospital, Sichuan University, Chengdu, 610041, China.
Shi B; State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of cleft lip and palate, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, Sichuan, China. .
Jia Z; State Key Laboratory of Oral Diseases & National Center for Stomatology & National Clinical Research Center for Oral Diseases & Dept. of cleft lip and palate, West China Hospital of Stomatology, Sichuan University, Chengdu, 610041, Sichuan, China. .; Pokaż więcej
Źródło :: Journal of human genetics [J Hum Genet] 2024 Apr; Vol. 69 (3-4), pp. 139-144. Date of Electronic Publication: 2024 Feb 06.
Typ publikacji :: Journal Article
MeSH Terms :: Cleft Lip*/genetics
Cleft Palate*/genetics
Craniofacial Abnormalities*
Animals ; Humans ; Zebrafish ; Genetic Predisposition to Disease ; Morpholinos ; Polymorphism, Single Nucleotide ; Genotype ; Transcription Factors/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 16 16.

Tytuł :: Traboulsi syndrome: A case report.
Autorzy :: Wang LL; First Clinical College, Gannan Medical University, Ganzhou, China.
Zhang LY; Department of Obstetrics and Gynecology, First Affiliated Hospital of Gannan Medical University, Ganzhou, China.
Zhou JL; Department of Obstetrics and Gynecology, First Affiliated Hospital of Gannan Medical University, Ganzhou, China. Electronic address: .; Pokaż więcej
Źródło :: Asian journal of surgery [Asian J Surg] 2024 Apr; Vol. 47 (4), pp. 1905-1906. Date of Electronic Publication: 2024 Jan 10.
Typ publikacji :: Case Reports; Letter
MeSH Terms :: Ectopia Lentis*
Craniofacial Abnormalities*
Iris/*abnormalities
Humans
SCR Disease Name :: Ectopia Lentis, Spontaneous Filtering Blebs, and Craniofacial Dysmorphism
: Raport

Szczegóły

Skocz do pozycji: 17 17.

Tytuł :: Biallelic loss-of-function variants in CACHD1 cause a novel neurodevelopmental syndrome with facial dysmorphism and multisystem congenital abnormalities.
Autorzy :: Scala M; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.
Khan K; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Beneteau C; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU de Bordeaux, Service de Génétique Médicale, Bordeaux, France.
Fox RG; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA.
von Hardenberg S; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Khan A; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL.
Joubert M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France.
Fievet L; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC.
Musquer M; CHU Nantes, UF of Fœtopathology and Genetics, Nantes, France; CHU Nantes, Department of Anatomical Pathology, Nantes, France.
Le Vaillant C; CHU Nantes, Department of Obstetrics and Gynecology, Nantes, France.
Holsclaw JK; Center for Human Disease Modeling, Duke University Medical Center, Durham, NC.
Lim D; Department of Clinical Genetics, Birmingham Women's and Children's NHS Foundation Trust and Birmingham Health Partners, Birmingham, United Kingdom; Department of Medicine, University of Birmingham, Birmingham, United Kingdom.
Berking AC; Department of Human Genetics, Hannover Medical School, Hannover, Germany.
Accogli A; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy.
Giacomini T; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy.
Nobili L; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Child Neuropsychiatry Unit, IRCCS G. Gaslini Institute, Genoa, Italy.
Striano P; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Pediatric Neurology and Muscular Diseases Unit, IRCCS Istituto Giannina Gaslini, University of Genoa, Genoa, Italy.
Zara F; Department of Neurosciences, Rehabilitation, Ophthalmology, Genetics, Maternal and Child Health, University of Genoa, Genoa, Italy; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.
Torella A; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Nigro V; Department of Precision Medicine, University of Campania 'Luigi Vanvitelli,' Naples, Italy; Telethon Institute of Genetics and Medicine, Pozzuoli, Italy.
Cogné B; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
Salick MR; Insitro, South San Francisco, CA.
Kaykas A; Insitro, South San Francisco, CA.
Eggan K; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA.
Capra V; Medical Genetics Unit, IRCCS Giannina Gaslini Institute, Genoa, Italy.
Bézieau S; CHU Nantes, Department of Medical Genetics, CHU Nantes, 9 quai Moncousu, Nantes, France; Nantes Université, CHU de Nantes, CNRS, INSERM, l'institut du thorax, Nantes, France.
Davis EE; Stanley Manne Children's Research Institute, Ann & Robert H. Lurie Children's Hospital of Chicago, Chicago, IL; Department of Pediatrics and Department of Cell and Developmental Biology, Feinberg School of Medicine, Northwestern University, Chicago, IL. Electronic address: .
Wells MF; Department of Human Genetics, David Geffen School of Medicine, University of California Los Angeles, Los Angeles, CA; Stanley Center for Psychiatric Research, Broad Institute of MIT and Harvard, Cambridge, MA; Molecular Biology Institute, University of California Los Angeles, Los Angeles, CA. Electronic address: .; Pokaż więcej
Źródło :: Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2024 Apr; Vol. 26 (4), pp. 101057. Date of Electronic Publication: 2023 Dec 27.
Typ publikacji :: Journal Article
MeSH Terms :: Abnormalities, Multiple*/genetics
Craniofacial Abnormalities*/genetics
Musculoskeletal Abnormalities*/genetics
Neurodevelopmental Disorders*/genetics
Animals ; Humans ; Intellectual Disability/genetics ; Phenotype ; Syndrome ; Zebrafish/genetics
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 18 18.

Tytuł :: Growing up with Marshall syndrome: A case report from infancy to age 12.5 years.
Autorzy :: Harris SR; Department of Physical Therapy, Faculty of Medicine, University of British Columbia, Vancouver, British Columbia, Canada.; Pokaż więcej
Źródło :: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Apr; Vol. 194 (4), pp. e63488. Date of Electronic Publication: 2023 Dec 07.
Typ publikacji :: Case Reports
MeSH Terms :: Osteochondrodysplasias*/diagnosis
Osteochondrodysplasias*/genetics
Craniofacial Abnormalities*/genetics
Hearing Loss, Sensorineural*/genetics
Cataract*
Collagen Type XI/*deficiency
Humans ; Child ; Female ; Mutation ; Syndrome
SCR Disease Name :: Marshall syndrome
: Raport

Szczegóły

Skocz do pozycji: 19 19.

Tytuł :: Motor control on gait performance among individuals with lower crossed syndrome: A scoping review.
Autorzy :: Zahari Z; Universiti Teknologi MARA, Faculty of Health Sciences, Centre for Physiotherapy Studies, Puncak Alam Campus, Selangor, Malaysia. .
Naga DNA; Universiti Teknologi MARA, Faculty of Health Sciences, Centre for Physiotherapy Studies, Puncak Alam Campus, Selangor, Malaysia.
Bukry SA; Universiti Teknologi MARA, Faculty of Health Sciences, Centre for Physiotherapy Studies, Puncak Alam Campus, Selangor, Malaysia.; Pokaż więcej
Źródło :: The Medical journal of Malaysia [Med J Malaysia] 2024 Mar; Vol. 79 (Suppl 1), pp. 168-175.
Typ publikacji :: Review; Journal Article
MeSH Terms :: Pigmentation Disorders*
Low Back Pain*
Abnormalities, Multiple*
Craniofacial Abnormalities*
Humans ; Gait/physiology ; Muscle, Skeletal
SCR Disease Name :: Oculocerebral hypopigmentation syndrome type Preus
: Czasopismo naukowe

Szczegóły

Skocz do pozycji: 20 20.

Tytuł :: Genotype-phenotype correlations in a fetus with Kleefstra syndrome.
Autorzy :: Wang X; Graduate School of Bengbu Medical College, Bengbu, Anhui, China; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China; Key Laboratory of Brain Diseases Bioinformation of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Wu J; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China; Key Laboratory of Brain Diseases Bioinformation of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Pang M; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Liu Y; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China.
Zhai J; Graduate School of Bengbu Medical College, Bengbu, Anhui, China; Department of Prenatal Diagnosis Medical Center, Xuzhou Central Hospital, Xuzhou Clinical School of Xuzhou Medical University, Xuzhou, Jiangsu, China; Key Laboratory of Brain Diseases Bioinformation of Xuzhou Medical University, Xuzhou, Jiangsu, China. Electronic address: .; Pokaż więcej
Źródło :: Taiwanese journal of obstetrics & gynecology [Taiwan J Obstet Gynecol] 2024 Mar; Vol. 63 (2), pp. 238-241.
Typ publikacji :: Case Reports
MeSH Terms :: Heart Defects, Congenital*/genetics
Intellectual Disability*/genetics
Abnormalities, Multiple*/genetics
Craniofacial Abnormalities*
Humans ; DNA Copy Number Variations ; Chromosome Deletion ; Fetus/pathology ; Genetic Association Studies ; Chromosomes, Human, Pair 9/genetics
SCR Disease Name :: Kleefstra Syndrome
: Raport

Szczegóły

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