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Journal of Medical Genetics, ISSN 0022-2593, 02/1930, Volume 54, Issue 2, p. 87
BackgroundIntellectual disability is a very complex condition where more than 600 genes have been reported. Due to this extraordinary heterogeneity, a large... 
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2456 - 2459
Schaaf–Yang syndrome (SYS) was recently identified as a genetic condition resembling Prader–Willi syndrome. It is caused by mutations on the paternal allele of... 
apnea | MAGEL2 | Schaaf–Yang syndrome | syndromal obesity | Prader–Willi syndrome | childhood obesity | Prader-Willi syndrome | GENETICS & HEREDITY | Schaaf-Yang syndrome | TRUNCATING MUTATIONS | Sleep apnea syndromes | Genetic aspects | Obesity in children | Patient outcomes | Mortality | Sleep disorders | Obesity | Sleep | Apnea | Akinesia | Body weight | Fetuses | MAGEL2 gene | Arthrogryposis | Mutation
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 12/2015, Volume 97, Issue 6, pp. 922 - 932
We describe an X-linked genetic syndrome associated with mutations in and manifesting with global developmental delay, intellectual disability (ID),... 
transcription | abnormal gait | dystonia | developmental delay | facial dysmorphology | neurologic features | intellectual disability | intergluteal crease | TAF1 | COMPLEX | CORNELIA | GENE | TRANSCRIPTION | GENETICS & HEREDITY | NEURON-SPECIFIC ISOFORM | PHENOTYPE | DE-LANGE-SYNDROME | MUTATIONS | EXPRESSION | BINDING | TATA-Binding Protein Associated Factors - metabolism | Developmental Disabilities - metabolism | Humans | Child, Preschool | Histone Acetyltransferases - genetics | Infant | Male | Developmental Disabilities - genetics | Transcription Factor TFIID - metabolism | Intellectual Disability - genetics | Intellectual Disability - metabolism | Inheritance Patterns | Transcription Factor TFIID - genetics | Young Adult | Developmental Disabilities - pathology | Histone Acetyltransferases - metabolism | Facies | Child | Disease Models, Animal | Neurodegenerative Diseases - pathology | Signal Transduction | Gene Expression Regulation | Intellectual Disability - pathology | Neurodegenerative Diseases - genetics | Zebrafish | Neurodegenerative Diseases - metabolism | TATA-Binding Protein Associated Factors - genetics | E-Box Elements | Phenotype | Animals | Pedigree | Adolescent | Family | Mutation | Causes of | Neurologic manifestations of general diseases | Genetic aspects | Genetic variation | Health aspects | Mental retardation | Proteins | Families & family life | Genotype & phenotype | Genes | Index Medicus | Report
Journal Article
European Journal of Human Genetics, ISSN 1018-4813, 01/2018, Volume 26, Issue 1, pp. 64 - 74
Journal Article
International Journal of Endocrinology and Metabolism, ISSN 1726-913X, 07/2018, Volume 16, Issue 3, p. e67329
Schaaf-Yang syndrome (SYS) is caused by truncating point mutations of the paternal allele of , an imprinted gene located in the critical region of Prader-Willi... 
Growth hormone | Hypothyroidism | Schaaf-yang syndrome
Journal Article
by Machol, Keren and Rousseau, Justine and Ehresmann, Sophie and Garcia, Thomas and Nguyen, Thi Tuyet Mai and Spillmann, Rebecca C and Sullivan, Jennifer A and Shashi, Vandana and Jiang, Yong-hui and Stong, Nicholas and Fiala, Elise and Willing, Marcia and Pfundt, Rolph and Kleefstra, Tjitske and Cho, Megan T and McLaughlin, Heather and Rosello Piera, Monica and Orellana, Carmen and Martínez, Francisco and Caro-Llopis, Alfonso and Monfort, Sandra and Roscioli, Tony and Nixon, Cheng Yee and Buckley, Michael F and Turner, Anne and Jones, Angela L and Jones, Wendy D and van Hasselt, Peter M and Hofstede, Floris C and van Gassen, Koen L.I and Brooks, Alice S and van Slegtenhorst, Marjon A and Lachlan, Katherine and Sebastian, Jessica and Madan-Khetarpal, Suneeta and Sonal, Desai and Sakkubai, Naidu and Thevenon, Julien and Faivre, Laurence and Maurel, Alice and Petrovski, Slavé and Krantz, Ian D and Tarpinian, Jennifer M and Rosenfeld, Jill A and Lee, Brendan H and Lee, Hane and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dillon, Ani and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Ferreira, Carlos and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
The American Journal of Human Genetics, ISSN 0002-9297, 01/2019, Volume 104, Issue 1, pp. 164 - 178
Journal Article
International Journal of Genomics, ISSN 2314-436X, 2017, Volume 2017
  We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion... 
Studies | Genotype & phenotype | Intellectual disabilities | Genomes | Gene expression | Patients | Deoxyribonucleic acid--DNA | Cancer
Journal Article
American Journal of Medical Genetics Part A, ISSN 1552-4825, 11/2018, Volume 176, Issue 11, pp. 2259 - 2275
De novo germline mutations in GNB1 have been associated with a neurodevelopmental phenotype. To date, 28 patients with variants classified as pathogenic have... 
developmental disabilities | seizures | mastocytosis | hypotonia | whole exome sequencing | GNB1 | GENETICS & HEREDITY | SUBUNITS | GROSS MOTOR FUNCTION | Gene mutations | Genetic aspects | Seizures (Medicine) | Literature reviews | Genotype & phenotype | Mastocytosis | Phenotypes | Mosaicism | Dystonia | Mutation | Patients | Genotypes
Journal Article
INTERNATIONAL JOURNAL OF GENOMICS, ISSN 2314-436X, 2017, Volume 2017, pp. 4798474 - 11
We report on three nonrelated patients with intellectual disability and CNVs that give rise to three new chimeric genes. All the genes forming these fusion... 
RANBP2 | INTEGRIN-LINKED KINASE | CELL-MATRIX | BIOCHEMISTRY & MOLECULAR BIOLOGY | TANDEM DUPLICATION | RECIPROCAL FUSION TRANSCRIPTS | BALANCED TRANSLOCATION | ACUTE NECROTIZING ENCEPHALOPATHY | COFFIN-SIRIS SYNDROME | BIOTECHNOLOGY & APPLIED MICROBIOLOGY | CORPUS-CALLOSUM | PROSTATE-CANCER | GENETICS & HEREDITY
Journal Article
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