2q23 de novo microdeletion involving the MBD5 gene in a patient with developmental delay, postnatal microcephaly and distinct facial features
暂无分享,去创建一个
[1] Leslie G Biesecker,et al. Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies. , 2010, American journal of human genetics.
[2] Stephen R. Williams,et al. Haploinsufficiency of MBD5 associated with a syndrome involving microcephaly, intellectual disabilities, severe speech impairment, and seizures , 2010, European Journal of Human Genetics.
[3] R. Pfundt,et al. The 2q23.1 microdeletion syndrome: clinical and behavioural phenotype , 2010, European Journal of Human Genetics.
[4] R. Hennekam,et al. Elements of morphology: Standard terminology for the nose and philtrum , 2009, American journal of medical genetics. Part A.
[5] J. Opitz,et al. Elements of morphology: Standard terminology for the periorbital region , 2009, American journal of medical genetics. Part A.
[6] H. Hoyme,et al. Elements of morphology: Standard terminology for the head and face , 2009, American journal of medical genetics. Part A.
[7] K. Devriendt,et al. Elements of morphology: Standard terminology for the lips, mouth, and oral region , 2009, American journal of medical genetics. Part A.
[8] Gabriele Gillessen-Kaesbach,et al. Elements of morphology: Standard terminology for the ear , 2009, American journal of medical genetics. Part A.
[9] L. Biesecker,et al. Elements of morphology: Standard terminology for the hands and feet , 2009, American journal of medical genetics. Part A.
[10] L. Pasquier,et al. 2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features? , 2008, Journal of Medical Genetics.
[11] A. Slavotinek. Novel microdeletion syndromes detected by chromosome microarrays , 2008, Human Genetics.
[12] P. Mundy,et al. Detection of pathogenic gene copy number variations in patients with mental retardation by genomewide oligonucleotide array comparative genomic hybridization , 2007, Human mutation.
[13] V. Liebscher,et al. Copy-number variations measured by single-nucleotide-polymorphism oligonucleotide arrays in patients with mental retardation. , 2007, American journal of human genetics.
[14] F. Zahir,et al. The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility , 2007, Clinical genetics.
[15] M. Fichera,et al. Cryptic deletions are a common finding in “balanced” reciprocal and complex chromosome rearrangements: a study of 59 patients , 2007, Journal of Medical Genetics.
[16] A. Ekici,et al. Molecular karyotyping in patients with mental retardation using 100K single-nucleotide polymorphism arrays , 2007, Journal of Medical Genetics.
[17] Sarah Barber,et al. Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation. , 2006, American journal of human genetics.
[18] B. Mazer,et al. Analysis of Clinical Features Predicting Etiologic Yield in the Assessment of Global Developmental Delay , 2006, Pediatrics.
[19] G Mortier,et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports , 2006, Journal of Medical Genetics.
[20] Ton Feuth,et al. Diagnostic genome profiling in mental retardation. , 2005, American journal of human genetics.
[21] Martin Offringa,et al. Diagnostic investigations in individuals with mental retardation: a systematic literature review of their usefulness , 2005, European Journal of Human Genetics.
[22] B. D. de Vries,et al. A novel microdeletion, del(2)(q22.3q23.3) in a mentally retarded patient, detected by array‐based comparative genomic hybridization , 2004, Clinical genetics.
[23] Ton Feuth,et al. Array-based comparative genomic hybridization for the genomewide detection of submicroscopic chromosomal abnormalities. , 2003, American journal of human genetics.
[24] M A Whelen,et al. Practice parameter: Evaluation of the child with global developmental delay , 2003, Neurology.
[25] S. Warburton,et al. Developmental delay and the methyl binding genes , 2003, Journal of medical genetics.
[26] C. Wijmenga,et al. The DNMT3B DNA methyltransferase gene is mutated in the ICF immunodeficiency syndrome. , 1999, Proceedings of the National Academy of Sciences of the United States of America.