العنوان البديل: A Case of Child with Branchio-Oculo-Facial Syndrome.

المؤلفون: فضائلی, سیده مریم¹ ma.fazaeli@stu-mail.um.ac.ir, مهدیه, رؤیا², شفقتی, یوسف³

المصدر: Journal of Mazandaran University of Medical Sciences (JMUMS). 2016, Vol. 26 Issue 137, p217-223. 7p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *GENETIC disorders, *BRANCHIAL arch, *MENTAL illness treatment, *PHYSIOLOGY

مصطلحات جغرافية: IRAN

المؤلفون: Dumitrescu, Alina V.¹ (AUTHOR), Milunsky, Jeff M.² (AUTHOR), Longmuir, Susannah Q.¹ (AUTHOR), Drack, Arlene V.¹ (AUTHOR) arlene-drack@uiowa.edu

المصدر: Ophthalmic Genetics. Jun2012, Vol. 33 Issue 2, p100-106. 7p.

مصطلحات موضوعية: *BRANCHIO-oto-renal syndrome, *GENETIC mutation, *RARE diseases, *CRANIOFACIAL abnormalities, *TRANSCRIPTION factors, *PHENOTYPES, *EXONS (Genetics), *CATARACT, *MICROPHTHALMIA

المؤلفون: S. T. Holden, Nigel Burrows, N. Stembridge

المصدر: Clinical and experimental dermatologyReferences. 46(8)

مصطلحات موضوعية: medicine.medical_specialty, business.industry, Infant, Dermatology, medicine.disease, Ectodermal Dysplasia, medicine, Humans, Female, business, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome, Aplasia cutis

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::f9d5f7145e9a050845b5da1c9121ec99Test
https://pubmed.ncbi.nlm.nih.gov/34435384Test

المؤلفون: Shazia Khan, Ene-Choo Tan, Jiin Ying Lim, Pamela Si-Min Ng, Saumya Shekhar Jamuar, Grace Lin, Jasmine Chew Yin Goh, Heming Wei

المصدر: Clinical dysmorphology. 28(4)

مصطلحات موضوعية: Adult, medicine.medical_specialty, Pathology and Forensic Medicine, TFAP2A, medicine, Humans, Eye Abnormalities, Child, Genetics (clinical), business.industry, Facies, Infant, General Medicine, medicine.disease, Dermatology, Phenotype, Transcription Factor AP-2, Pediatrics, Perinatology and Child Health, Mutation (genetic algorithm), Mutation, Female, Anatomy, Presentation (obstetrics), business, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::94db1659d6ea7b57ae7912edd54e6434Test
https://pubmed.ncbi.nlm.nih.gov/31490282Test

المؤلفون: Galliani, Eva, Burglen, Lydie, Kadlub, Natacha, Just, Walter, Sznajer, Yves, de Villemeur, Thierry Billette, Soupre, Véronique, Picard, Arnaud, Vazquez, Marie-Paule

المصدر: Cleft Palate Craniofacial Journal; May2012, Vol. 49 Issue 3, p357-364, 8p

مصطلحات موضوعية: PALATE surgery, LIP surgery, DIFFERENTIAL diagnosis, EMBRYOLOGY, CASE studies, GENETIC mutation, GENOMICS, EQUIPMENT & supplies, BRANCHIO-oto-renal syndrome, DESCRIPTIVE statistics

مصطلحات جغرافية: FRANCE

المؤلفون: Albert K. Oh, Frank P. Albino, Benjamin C. Wood, Sojung Yi, Gary F. Rogers, Tina M. Sauerhammer

المصدر: The Journal of craniofacial surgery. 27(6)

مصطلحات موضوعية: 0301 basic medicine, medicine.medical_specialty, Cleft Lip, 030105 genetics & heredity, Microphthalmia, TFAP2A, 03 medical and health sciences, medicine, Humans, Expressivity (genetics), Craniofacial, Branchio-oto-renal syndrome, Coloboma, business.industry, Infant, Newborn, General Medicine, medicine.disease, Dermatology, 030104 developmental biology, medicine.anatomical_structure, Otorhinolaryngology, Child, Preschool, Surgery, Female, sense organs, business, Branchio-oculo-facial syndrome, Pharyngeal arch, Branchio-Oto-Renal Syndrome, Neck

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7b90ba39b14ec0ee905098e02972617aTest
https://pubmed.ncbi.nlm.nih.gov/27607113Test

المؤلفون: Felecia E. Cerrato, Jeanne Amiel, Matthew S. Edwards, Deborah A. Nickerson, Anita E. Beck, Michael Field, Kathryn M. Shively, Holly K. Tabor, Brian I. Labow, Joshua D. Smith, Jay Shendure, Ana Beatriz Alvarez Perez, Michael J. Bamshad, Martine Le Merrer, Jose A.R. Fortes, Nara Sobreira, Ghislaine Plessis, Maria Luisa Giovannucci Uzielli, Emily H. Turner, Alexander G. Marneros, Christopher T. Gordon, AK Lampe, Margaret J. McMillin, Ernst J Reichenberger

المصدر: The American Journal of Human Genetics. 92:621-626

مصطلحات موضوعية: Male, Ectodermal dysplasia, Molecular Sequence Data, Mutation, Missense, Biology, medicine.disease_cause, Ectodermal Dysplasia, Report, Genetics, medicine, Humans, Missense mutation, Abnormalities, Multiple, Exome, Genetics(clinical), Amino Acid Sequence, Ear, External, Genetics (clinical), Exome sequencing, Branchio-oto-renal syndrome, Hypospadias, Mutation, Scalp, Sequence Homology, Amino Acid, medicine.disease, Pedigree, Protein Structure, Tertiary, Repressor Proteins, Phenotype, Nipples, Muscle Hypotonia, Female, Scalp–ear–nipple syndrome, Co-Repressor Proteins, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::646b67f8a4280012265fdf3426701f08Test
https://doi.org/10.1016/j.ajhg.2013.03.002Test

المؤلفون: Nicola K. Ragge, Hannah Titheradge, Chirag Patel

المصدر: Clinical Dysmorphology. 24:13-16

مصطلحات موضوعية: Male, Adolescent, Perinatal Death, Pathology and Forensic Medicine, Young Adult, Fatal Outcome, Variable phenotype, Humans, Medicine, Family, Child, Genetics (clinical), Genetics, business.industry, Infant, Newborn, General Medicine, medicine.disease, Consultand, Pedigree, stomatognathic diseases, Phenotype, Child, Preschool, Pediatrics, Perinatology and Child Health, TFAP2A Gene, Female, Neonatal lethality, sense organs, Anatomy, business, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::677570e342e546f4b22d76fe309d5740Test
https://doi.org/10.1097/mcd.0000000000000056Test

المؤلفون: S. Yu, Christopher P. Barnett, Shannon LeBlanc

المصدر: American Journal of Medical Genetics Part A. 161:901-904

مصطلحات موضوعية: Adult, Genetics, Comparative Genomic Hybridization, business.industry, Infant, medicine.disease, Phenotype, TFAP2A, Transcription Factor AP-2, Mutation, Mutation (genetic algorithm), Humans, Medicine, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, business, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome, Genetics (clinical), Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::2dcaa80a20d7064af87d6e65997607e9Test
https://doi.org/10.1002/ajmg.a.35804Test

المؤلفون: Daniel P. Judge, Brittney Murray, Rohan Wagle, Elizabeth Goldmuntz, Matthew A. Deardorff, Paul Stephens, Elaine H. Zackai, Nuria Amat-Alarcon, Hugh Calkins, Alisha Wilkens

المصدر: American Journal of Medical Genetics Part A. 161:371-376

مصطلحات موضوعية: Adult, Cardiomyopathy, Biology, Bioinformatics, Desmosome, Genetics, medicine, Humans, Arrhythmogenic Right Ventricular Dysplasia, Genetic Association Studies, Genetics (clinical), Ultrasonography, Genetic testing, medicine.diagnostic_test, Genetic heterogeneity, Desmoplakin, Stroke Volume, medicine.disease, Pedigree, Arrhythmogenic right ventricular dysplasia, Phenotype, medicine.anatomical_structure, Molecular Diagnostic Techniques, biology.protein, Chromosomes, Human, Pair 6, Female, Chromosome Deletion, Haploinsufficiency, Branchio-oculo-facial syndrome, Branchio-Oto-Renal Syndrome

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::3720d19af8d0e82ba82ca2c9853e492fTest
https://doi.org/10.1002/ajmg.a.35733Test