Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies. (Q51831615)

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scientific article published on 28 October 2010

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English	Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies.	scientific article published on 28 October 2010

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14 January 2020

Clinical application of array-based comparative genomic hybridization by two-stage screening for 536 patients with mental retardation and multiple congenital anomalies (English)

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Issei Imoto

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Yoshinori Aizu

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Nobuhiko Okamoto

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Seiji Mizuno

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Kenji Kurosawa

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Nana Okamoto

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Shozo Honda

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Satoshi Araki

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Shuki Mizutani

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Hironao Numabe

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Tomoki Kosho

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Yoshimitsu Fukushima

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Hiroshi Mitsubuchi

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Fumio Endo

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Yasutsugu Chinen

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Rika Kosaki

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Torayuki Okuyama

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Hirotaka Ohki

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Hiroshi Yoshihashi

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Masae Ono

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Fumio Takada

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Hiroaki Ono

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Mariko Yagi

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Hiroshi Matsumoto

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Yoshio Makita

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Akira Hata

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Johji Inazawa

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28 October 2010

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14 January 2020

Journal of Human Genetics

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Outcome of the routine assessment of patients with mental retardation in a genetics clinic

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CONGENITAL ANOMALIES ASSOCIATED WITH IDIOPATHIC MENTAL RETARDATION.

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Severe Mental Retardation in a Swedish County – II. Etiologic and Pathogenetic Aspects of Children Born 1959–1970

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Prospective screening for subtelomeric rearrangements in children with mental retardation of unknown aetiology: the Amsterdam experience

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Array-based comparative genomic hybridization analysis of 1176 consecutive clinical genetics investigations.

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X chromosome array-CGH for the identification of novel X-linked mental retardation genes.

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Application of a comprehensive subtelomere array in clinical diagnosis of mental retardation.

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Oligonucleotide microarray analysis of genomic imbalance in children with mental retardation

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Analytical and clinical validity of whole-genome oligonucleotide array comparative genomic hybridization for pediatric patients with mental retardation and developmental delay.

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Development of a focused oligonucleotide-array comparative genomic hybridization chip for clinical diagnosis of genomic imbalance

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Molecular karyotyping of patients with unexplained mental retardation by SNP arrays: a multicenter study

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Comparative genomic hybridization (CGH)-arrays pave the way for identification of novel cancer-related genes

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Detection of cryptic chromosome aberrations in a patient with a balanced t(1;9)(p34.2;p24) by array-based comparative genomic hybridization.

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Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.

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15q overgrowth syndrome: a newly recognized phenotype associated with overgrowth, learning difficulties, characteristic facial appearance, renal anomalies and increased dosage of distal chromosome 15q.

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Drayer's syndrome of mental retardation, microcephaly, short stature and absent phalanges is caused by a recurrent deletion of chromosome 15(q26.2-->qter).

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Whole-genome array-CGH for detection of submicroscopic chromosomal imbalances in children with mental retardation

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A recurrent 16p12.1 microdeletion supports a two-hit model for severe developmental delay

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7 January 2021

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Discovery of a previously unrecognized microdeletion syndrome of 16p11.2-p12.2.

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7 January 2021

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Heterozygous deletion at 14q22.1-q22.3 including the BMP4 gene in a patient with psychomotor retardation, congenital corneal opacity and feet polysyndactyly

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High-resolution molecular karyotyping in patients with developmental delay and/or multiple congenital anomalies in a clinical setting.

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7 January 2021

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