المؤلفون: Bernd Auber, Carolin Huisinga, Christian P. Kratz, Michael C. Frühwald, Astrid Behnert, Tim Ripperger, Doris Steinemann, Kais Hussein

المصدر: American journal of medical genetics. Part A. 176(6)

مصطلحات موضوعية: 0301 basic medicine, Oncology, Male, medicine.medical_specialty, Tumor suppressor gene, Adolescent, Locus (genetics), 030105 genetics & heredity, Malignancy, Germline, Loss of heterozygosity, 03 medical and health sciences, Testicular Neoplasms, Internal medicine, Intellectual Disability, Proto-Oncogene Proteins, Genetics, medicine, Humans, Abnormalities, Multiple, Genetic Predisposition to Disease, SMARCB1, Genetics (clinical), Rhabdoid Tumor, Bone Diseases, Developmental, business.industry, Tooth Abnormalities, Facies, medicine.disease, Candidate Tumor Suppressor Gene, Pedigree, Female, Chromosome Deletion, business, Haploinsufficiency, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d98048b273b713983a7a2d3633079345Test
https://pubmed.ncbi.nlm.nih.gov/29696793Test

المؤلفون: Kiem Lien Thi Nguyen, Laurence Colleaux, Lam Son Nguyen, Van Hai Nong, Thu Hien Nguyen, Diem Ngoc Ngo, Pierre Landrieu, Van Anh Pham, Valérie Malan, Huy Hoang Nguyen, Giulia Barcia

المساهمون: Hanoi School of Public Health (HUPH), Molecular and pathophysiological bases of cognitive disorders (Equipe Inserm U1163), Imagine - Institut des maladies génétiques (IMAGINE - U1163), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Université Paris Descartes - Paris 5 (UPD5), Université Sorbonne Paris Cité (USPC), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM), Centre National de la Recherche Scientifique (CNRS)-Université Paris Descartes - Paris 5 (UPD5)-Institut National de la Santé et de la Recherche Médicale (INSERM)

المصدر: American Journal of Medical Genetics Part A
American Journal of Medical Genetics Part A, Wiley, 2018, 176 (9), pp.1981-1984. ⟨10.1002/ajmg.a.40375⟩

مصطلحات موضوعية: 0301 basic medicine, Male, Pediatrics, medicine.medical_specialty, Adolescent, Vietnamese, Visual impairment, Forked tongue, Craniofacial Abnormalities, 03 medical and health sciences, Ptosis, Intellectual Disability, Gene duplication, Intellectual disability, Chromosome Duplication, Genetics, medicine, Humans, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, Genetic Association Studies, Comparative Genomic Hybridization, business.industry, Facies, medicine.disease, language.human_language, 030104 developmental biology, Phenotype, [SDV.GEN.GH]Life Sciences [q-bio]/Genetics/Human genetics, Vietnam, Chromosomes, Human, Pair 1, language, medicine.symptom, Presentation (obstetrics), business, Chromosomes, Human, Pair 16, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::ef90fbfd02233f1348757d66ca59257bTest
https://pubmed.ncbi.nlm.nih.gov/30178921Test

المؤلفون: Qun Fang, Yanmin Luo, Linhuan Huang, Shaobin Lin, Lin Li

المصدر: American journal of medical genetics. Part A. 173(8)

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Developmental Disabilities, Heart Ventricles, Monozygotic twin, Biology, Pericardial effusion, Aortic Coarctation, Heart Septal Defects, Atrial, Pericardial Effusion, 03 medical and health sciences, SH2B1, Genetics, medicine, Diseases in Twins, Humans, Abnormalities, Multiple, Hydronephrosis, Genetics (clinical), Adaptor Proteins, Signal Transducing, Single umbilical artery, Infant, Newborn, Chromosome, Twins, Monozygotic, medicine.disease, 030104 developmental biology, Phenotype, Left ventricular noncompaction, Chromosome Deletion, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::548bf46bf483128036caab7ee8d2359dTest
https://pubmed.ncbi.nlm.nih.gov/28544142Test

المؤلفون: Hatem A Mousa, Gabriela E. Jones, Osric Navti, Anna K. Richmond, Stephen Abbs, Sahar Mansour, Pradeep Vasudevan, Edward Thompson

المصدر: American journal of medical genetics. Part A. 173(8)

مصطلحات موضوعية: 0301 basic medicine, Adult, Male, medicine.medical_specialty, Distichiasis, 030232 urology & nephrology, Kidney, Duplex Kidney, Congenital Abnormalities, 03 medical and health sciences, 0302 clinical medicine, Genetics, medicine, Humans, Lymphedema, Frameshift Mutation, Hydronephrosis, Genetics (clinical), Eyelashes, business.industry, Infant, Newborn, Lymphedema–distichiasis syndrome, Infant, Forkhead Transcription Factors, Anatomy, Middle Aged, medicine.disease, Ectopic kidney, Pedigree, Bilateral Renal Agenesis, 030104 developmental biology, medicine.anatomical_structure, Female, Kidney Diseases, Radiology, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::c599c0222302ecc9dfb0aa36083e3fddTest
https://pubmed.ncbi.nlm.nih.gov/28544699Test

المؤلفون: Low, Karen, Ashraf, Tazeen, Canham, Natalie, Clayton-Smith, Jill, Deshpande, Charu, Donaldson, Alan, Fisher, Richard, Flinter, Frances, Foulds, Nicola, Fryer, Alan, Gibson, Kate, Hayes, Ian, Hills, Alison, Holder, Susan, Irving, Melita, Joss, Shelagh, Kivuva, Emma, Lachlan, Kathryn, Magee, Alex, McConnell, Vivienne, McEntagart, Meriel, Metcalfe, Kay, Montgomery, Tara, Newbury-Ecob, Ruth, Stewart, Fiona, Turnpenny, Peter, Vogt, Julie, Fitzpatrick, David, Williams, Maggie, Smithson, Sarah

المصدر: American Journal of Medical Genetics. Part a
Low, K, Ashraf, T, Canham, N, Clayton-Smith, J, Deshpande, C, Donaldson, A, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Gibson, K, Hayes, I, Hills, A, Holder, S, Irving, M, Joss, S, Kivuva, E, Lachlan, K, Magee, A, McConnell, V, McEntagart, M, Metcalfe, K, Montgomery, T, Newbury-Ecob, R, Stewart, F, Turnpenny, P, Vogt, J, Fitzpatrick, D, Williams, M & Smithson, S 2016, ' Clinical and genetic aspects of KBG syndrome ', American Journal of Medical Genetics, Part A, vol. 170, no. 11, pp. 2835-2846 . https://doi.org/10.1002/ajmg.a.37842Test
Low, K, Ashraf, T, Canham, N, Clayton-Smith, J, Deshpande, C, Donaldson, A, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Gibson, K, Hayes, I, Hills, A, Holder, S, Irving, M, Joss, S, Kivuva, E, Lachlan, K, Magee, A, McConnell, V, McEntagart, M, Metcalfe, K, Montgomery, T, Newbury-Ecob, R, Stewart, F, Turnpenny, P, Vogt, J, FitzPatrick, D, Williams, M & Smithson, S 2016, ' Clinical and genetic aspects of KBG syndrome ', American Journal of Medical Genetics Part A, vol. 170, no. 11, pp. 2835-2846 . https://doi.org/10.1002/ajmg.a.37842Test
Low, K, Ashraf, T, Canham, N, Clayton-Smith, J, Deshpande, C, Donaldson, A, Fisher, R, Flinter, F, Foulds, N, Fryer, A, Gibson, K, Hayes, I, Hills, A, Holder, S, Irving, M, Joss, S, Kivuva, E, Lachlan, K, Magee, A, McConnell, V, McEntagart, M, Metcalfe, K, Montgomery, T, Newbury-Ecob, R, Stewart, F, Turnpenny, P, Vogt, J, Fitzpatrick, D, Williams, M, Smithson, S 2016, ' Clinical and genetic aspects of KBG syndrome ', American Journal of Medical Genetics, Part A, vol. 170, no. 11, pp. 2835-2846 . https://doi.org/10.1002/ajmg.a.37842Test

مصطلحات موضوعية: Male, Bone Diseases, Developmental, Comparative Genomic Hybridization, macrodontia, Tooth Abnormalities, Facies, Original Articles, KBG syndrome, ANKRD11, Repressor Proteins, Phenotype, Intellectual Disability, Humans, Abnormalities, Multiple, Female, Genetic Predisposition to Disease, Original Article, Chromosome Deletion, Chromosomes, Human, Pair 16, Genetic Association Studies

وصف الملف: application/pdf; text

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::0c571470a87b624105b1f1d430800491Test
https://pubmed.ncbi.nlm.nih.gov/27667800Test

المؤلفون: Andrea Guerin, Graeme A. M. Nimmo, Dimitri J. Stavropoulos, Grace Yoon, Melissa T. Carter, Ramses Badilla-Porras

المصدر: American journal of medical genetics. Part A. 170(3)

مصطلحات موضوعية: 0301 basic medicine, Male, Genotype, Heart malformation, Developmental Disabilities, Trisomy, Biology, 03 medical and health sciences, Genetics, medicine, Humans, Child, Hydronephrosis, Genetics (clinical), Genetic Association Studies, In Situ Hybridization, Fluorescence, Chronic constipation, Comparative Genomic Hybridization, Hepatobiliary disease, Facies, Infant, Low copy repeats, Anatomy, Short palpebral fissure, medicine.disease, 030104 developmental biology, Phenotype, Chromosomes, Human, Pair 1, Child, Preschool, Failure to thrive, Female, Growth delay, medicine.symptom, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::e0b2b811ad28f99a2d59b229faba5d92Test
https://pubmed.ncbi.nlm.nih.gov/26647099Test

المؤلفون: Ramon Lago-Leston, Inés Quintela, Francisco Barros, Angel Carracedo, Manuel Castro-Gago, Jesús Eirís

المصدر: American journal of medical genetics. Part A. 167(6)

مصطلحات موضوعية: Male, Genotype, Developmental Disabilities, Biology, Intellectual disability, Gene duplication, Chromosome Duplication, Genetics, medicine, Humans, Language Development Disorders, Global developmental delay, Child, Genetics (clinical), Models, Genetic, Genetic heterogeneity, Facies, medicine.disease, Penetrance, Phenotype, Pedigree, Speech delay, medicine.symptom, Obsessive Behavior, SOXD Transcription Factors, Chromosomes, Human, Pair 16, Gene Deletion

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::34912e099bcd1d2a07a102572deefe52Test
https://pubmed.ncbi.nlm.nih.gov/25847113Test

المؤلفون: Nagwa A. Meguid, Ehab R. Abdelraouf, Amal M. Mohamed, Wael Mahmoud, Alaa K. Kamel

المصدر: American journal of medical genetics. Part A. (1)

مصطلحات موضوعية: Proband, Male, Pediatrics, medicine.medical_specialty, Derivative chromosome, Chromosomal translocation, Biology, Translocation, Genetic, Segmental Duplications, Genomic, Intellectual Disability, Gene duplication, Intellectual disability, Genetics, medicine, Humans, Hypertelorism, Child, Genetics (clinical), In Situ Hybridization, Fluorescence, Genetic testing, Arthrogryposis, Comparative Genomic Hybridization, Family Characteristics, medicine.diagnostic_test, Infant, medicine.disease, Pedigree, Phenotype, Chromosomes, Human, Pair 1, Child, Preschool, Cytogenetic Analysis, Female, medicine.symptom, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::bd4345d4af2d53a30c5493b03bb70465Test
https://pubmed.ncbi.nlm.nih.gov/25425358Test

المؤلفون: Kowalczyk, M, Kowalczyk, M (Malgorzata), Tomaszewska, A, Podbiol-Palenta, A, Remiszewska, B, Galjaard, Robert-Jan, Zajaczek, S, Srebniak, Gosia

المساهمون: Erasmus MC other, Clinical Genetics

المصدر: American Journal of Medical Genetics Part A, 161A(6), 1501-1504. Wiley-Liss Inc.

مصطلحات موضوعية: Adult, Euchromatin, Nasal bridge, Biology, Polymorphism, Single Nucleotide, Genetics, medicine, Humans, Hypertelorism, Gene, Genetics (clinical), Oligonucleotide Array Sequence Analysis, Comparative Genomic Hybridization, Breakpoint, Karyotype, Cadherins, Chromosome Banding, Phenotype, Karyotyping, Female, medicine.symptom, Chromosome Deletion, Chromosomes, Human, Pair 16, SNP array, Comparative genomic hybridization

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d2c8c4758b1d403af0edc01fccc29e90Test
https://pubmed.ncbi.nlm.nih.gov/23633153Test

المؤلفون: Yao Shan Fan, Deling Li, Mustafa Tekin, Stephanie Cohn Sacharow

المصدر: American journal of medical genetics. Part A. (3)

مصطلحات موضوعية: Adult, Pediatrics, medicine.medical_specialty, Skeletal anomalies, Short stature, Intellectual Disability, Intellectual disability, Genetics, medicine, Humans, Abnormalities, Multiple, Genetics (clinical), Bone Diseases, Developmental, Comparative Genomic Hybridization, Hand anomalies, business.industry, Tooth Abnormalities, Facies, Bone age, KBG SYNDROME, medicine.disease, Repressor Proteins, Macrodontia (tooth), Child, Preschool, Female, medicine.symptom, Chromosome Deletion, Haploinsufficiency, business, Chromosomes, Human, Pair 16

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::0d4a48a0bbdd7b95bc8898fffb895302Test
https://pubmed.ncbi.nlm.nih.gov/22307766Test