A second generation human haplotype map of over 3.1 million SNPs
- K. Frazer, D. Ballinger, J. Stewart
- 18 October 2007
The Phase II HapMap is described, which characterizes over 3.1 million human single nucleotide polymorphisms genotyped in 270 individuals from four geographically diverse populations and includes 25–35% of common SNP variation in the populations surveyed, and increased differentiation at non-synonymous, compared to synonymous, SNPs is demonstrated.
ITPKC functional polymorphism associated with Kawasaki disease susceptibility and formation of coronary artery aneurysms
- Y. Onouchi, T. Gunji, A. Hata
- Biology, MedicineNature Genetics
A functional SNP (itpkc_3) in the inositol 1,4,5-trisphosphate 3-kinase C (ITPKC) gene on chromosome 19q13.2 that is significantly associated with Kawasaki disease susceptibility and also with an increased risk of coronary artery lesions is identified.
Mutations affecting components of the SWI/SNF complex cause Coffin-Siris syndrome
- Y. Tsurusaki, N. Okamoto, N. Matsumoto
- BiologyNature Genetics
- 18 March 2012
By exome sequencing, we found de novo SMARCB1 mutations in two of five individuals with typical Coffin-Siris syndrome (CSS), a rare autosomal dominant anomaly syndrome. As SMARCB1 encodes a subunit…
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency.
- N. Niikawa, N. Matsuura, Y. Fukushima, T. Ohsawa, T. Kajii
- MedicineJornal de Pediatria
- 1 October 1981
A new assay for the analysis of X-chromosome inactivation based on methylation-specific PCR
- T. Kubota, S. Nonoyama, Y. Fukushima
- BiologyHuman Genetics
It is concluded that M-PCR provides an accurate assay for X-inactivation and that it can be performed on various DNA samples unsuitable for restriction digestion.
GATA3 abnormalities and the phenotypic spectrum of HDR syndrome
- K. Muroya, T. Hasegawa, T. Ogata
- Medicine, BiologyJournal of Medical Genetics
- 1 June 2001
The results suggest that HDR syndrome is primarily caused by GATA3 haploinsufficiency and is associated with a wide phenotypic spectrum.
Neonatal management of trisomy 18: Clinical details of 24 patients receiving intensive treatment
- T. Kosho, Tomohiko Nakamura, H. Kawame, A. Baba, M. Tamura, Y. Fukushima
- MedicineAmerican Journal of Medical Genetics. Part A
- 1 May 2006
Detailed clinical data of 24 patients with full trisomy 18 admitted to the neonatal intensive care unit of Nagano Children's Hospital, providing intensive treatment to those with trisom 18, from 1994 to 2003 are reviewed to delineate the natural history of trisome 18 managed under intensive treatment.
An imprinted gene p57KIP2 is mutated in Beckwith–Wiedemann syndrome
Nine patients with Beckwith-Wiedemann syndrome were examined and two were heterozygous for different mutations in this gene — a missense mutation in the Cdk inhibitory domain resulting in loss of most of the protein, and a frameshift resulting in disruption of the QT domain.
Fifty microdeletions among 112 cases of Sotos syndrome: Low copy repeats possibly mediate the common deletion
- N. Kurotaki, N. Harada, N. Matsumoto
- BiologyHuman Mutation
- 1 November 2003
A sequence‐based physical map was constructed and highly homologous sequences, i.e., possible low copy repeats (LCRs), in regions flanking proximal and distal breakpoints of the common deletion, suggests that LCRs may mediate the deletion.
Aniridia-associated cytogenetic rearrangements suggest that a position effect may cause the mutant phenotype.
- J. Fantes, B. Redeker, M. Mannens
- BiologyHuman Molecular Genetics
- 1 March 1995
It is proposed that the PAX6 gene on the rearranged chromosome 11 is in an inappropriate chromatin environment for normal expression and therefore that a 'position effect' is the underlying mechanism of disease in these families.