about
An X-linked myopathy with postural muscle atrophy and generalized hypertrophy, termed XMPMA, is caused by mutations in FHL1Mapping of balanced chromosome translocation breakpoints to the basepair level from microdissected chromosomes.The G-protein coupled receptor associated sorting protein GASP-1 regulates the signalling and trafficking of the viral chemokine receptor US28.Identification and in silico analysis of 14 novel GJB1, MPZ and PMP22 gene mutations.Fatal EBV infection and variable clinical manifestations in an XLP-1 pedigree - rapid diagnosis of primary immunodeficiencies may save lives.Defining 'chromosomal instability'.Predictive diagnosis of the cancer prone Li-Fraumeni syndrome by accident: new challenges through whole genome array testing.Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome.Persistence of DNA threads in human anaphase cells suggests late completion of sister chromatid decatenation.Androgen receptor expression in breast cancer patients tested for BRCA1 and BRCA2 mutations.Re-alignment-procedures for skeletal dysplasia in three patients with genetically diverse syndromes.Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.Identification of risk genes for autism spectrum disorder through copy number variation analysis in Austrian families.Characterization of a de novo complex chromosome rearrangement (CCR) involving chromosomes 2 and 12, associated with mental retardation and impaired speech development.MODY type 2 in Greig cephalopolysyndactyly syndrome (GCPS) as part of a contiguous gene deletion syndrome.Further evidence for the pathogenicity of 15q24 microduplications distal to the minimal critical regionsGenomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromesSporadic gastric Peutz-Jeghers polyp with intraepithelial neoplasiaJuvenile parkinsonism associated with heterozygous frameshift ATP13A2 gene mutation
P50
Q24642919-55F6DB4D-9F11-4A41-BEF1-93C79C3A6B68Q30985103-34FF95A0-31FD-456B-AA7A-0E62BAF93DE2Q34282400-391885FF-6615-448C-BA1D-03D344115A08Q34327017-E7C2AE30-C8FE-4D6E-8417-4353A425E572Q34473485-59418F62-19D1-4996-A34E-7672D1E02935Q34735361-76F49790-77B4-4A0E-889F-305DBA0E741DQ37160436-154C11A8-896A-4C94-8ABC-EB91502E1089Q40219823-C7D4DE25-FE9B-4043-B3E1-0E0A0F4D6D09Q42007577-60B40543-DA2D-4914-B583-72327BAA46FBQ42776500-5097D715-482C-4A60-B476-E6C4A2F3637BQ45075627-051111F2-60A8-4DCE-B664-F742AFE67EDCQ46196392-DB9CC290-3888-481C-A802-5C67AA2EBB5AQ50308164-5BD2F7E8-D84B-42C6-A299-05CACDC4E6BDQ51912547-F1A81276-121F-453A-8D11-8B037873C92DQ54341323-8557BAF8-2A54-41F4-98CB-93DFDCC84867Q57631295-057CFB9B-7D35-4D86-8171-0B5BE76B51CBQ63869167-64CEF757-EF2D-42B9-9C4F-9DCF61180BADQ79822727-741A944C-E757-4F7F-8F51-EC8DAE701095Q82533297-33A63F1A-C52C-4B44-A428-5353739C30C5Q83402108-77ABF1A5-6958-486F-B971-C097C0ED86DA
P50
description
researcher
@en
wetenschapper
@nl
հետազոտող
@hy
name
Thomas Schwarzbraun
@ast
Thomas Schwarzbraun
@en
Thomas Schwarzbraun
@es
Thomas Schwarzbraun
@nl
Thomas Schwarzbraun
@sl
type
label
Thomas Schwarzbraun
@ast
Thomas Schwarzbraun
@en
Thomas Schwarzbraun
@es
Thomas Schwarzbraun
@nl
Thomas Schwarzbraun
@sl
prefLabel
Thomas Schwarzbraun
@ast
Thomas Schwarzbraun
@en
Thomas Schwarzbraun
@es
Thomas Schwarzbraun
@nl
Thomas Schwarzbraun
@sl
P106
P21
P31
P496
0000-0002-9111-4219