The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.
about
Disruption of RAB40AL function leads to Martin--Probst syndrome, a rare X-linked multisystem neurodevelopmental human disorderBreakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern EuropeansNucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.Disruption of DMD and deletion of ACSL4 causing developmental delay, hypotonia, and multiple congenital anomalies.Genomic medicine and neurological disease.Sexy gene conversions: locating gene conversions on the X-chromosomeThe Largest Paracentric Inversion, the Highest Rate of Recombinant Spermatozoa. Case Report: 46,XY, inv(2)(q21.2q37.3) and Literature Review.Comprehensive investigation of CASK mutations and other genetic etiologies in 41 patients with intellectual disability and microcephaly with pontine and cerebellar hypoplasia (MICPCH)Novel intragenic duplications and mutations of CASK in patients with mental retardation and microcephaly with pontine and cerebellar hypoplasia (MICPCH).Molecular characterization of an X(p21.2;q28) chromosomal inversion in a Duchenne muscular dystrophy patient with mental retardation reveals a novel long non-coding gene on Xq28.Evidence against RAB40AL being the locus for Martin-Probst X-linked deafness-intellectual disability syndrome.SNP array screening of cryptic genomic imbalances in 450 Japanese subjects with intellectual disability and multiple congenital anomalies previously negative for large rearrangements.High concentration of middle chain fatty acid in a case of Duchenne muscular dystrophy with severe mental retardation.
P2860
Q24321837-0FA9F0F2-9892-45A6-BDAA-0614056FE254Q24546374-F4F9BDE4-CD1A-412B-BC73-C7764C68CC82Q33518545-4E6DC133-601D-4665-B522-EE5DE9C12DDAQ34466059-4121B54B-608E-42A8-8134-C4FE78F00F56Q35097544-7C4F5DBF-E73E-49F9-854E-F0DF18E160B1Q37298551-D12D17BF-1C2F-4ADC-B948-C04491591651Q38367809-14172572-1AF7-47AF-840A-C7F9B33A3E97Q41281131-3656BD74-F26F-4042-979A-71A79517EAC4Q41935209-F997047B-8BCA-44E7-AB00-FA78857E65BEQ43907846-2D76901E-B665-45DF-8793-19F49155FA29Q46696457-CB9D3A3D-A862-4052-A899-2BD827B70240Q48267975-FA4534DC-8205-471B-9798-E59CC8D2B4A8Q51759151-B0C45BF6-F88F-4BEE-941C-6A6E858F297F
P2860
The Xq22 inversion breakpoint interrupted a novel Ras-like GTPase gene in a patient with Duchenne muscular dystrophy and profound mental retardation.
description
article científic
@ca
article scientifique
@fr
articolo scientifico
@it
artigo científico
@pt
bilimsel makale
@tr
scientific article published on 23 July 2002
@en
vedecký článok
@sk
vetenskaplig artikel
@sv
videnskabelig artikel
@da
vědecký článek
@cs
name
The Xq22 inversion breakpoint ...... d profound mental retardation.
@en
The Xq22 inversion breakpoint ...... d profound mental retardation.
@nl
type
label
The Xq22 inversion breakpoint ...... d profound mental retardation.
@en
The Xq22 inversion breakpoint ...... d profound mental retardation.
@nl
prefLabel
The Xq22 inversion breakpoint ...... d profound mental retardation.
@en
The Xq22 inversion breakpoint ...... d profound mental retardation.
@nl
P2093
P2860
P356
P1476
The Xq22 inversion breakpoint ...... nd profound mental retardation
@en
P2093
Fumiko Saito-Ohara
Johji Inazawa
Kishan Lal Agarwala
Masafumi Matsuo
Masaharu Hayashi
Masahiro Ito
Yoji Fukuda
Yusuke Nakamura
P2860
P304
P356
10.1086/342208
P407
P577
2002-07-23T00:00:00Z