Detalhe da pesquisa
1.
Mutational spectrum in patients with dominant non-syndromic hearing loss in Austria.
Eur Arch Otorhinolaryngol
; 2024 Feb 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-38400873
2.
A homozygous AP3D1 missense variant in patients with sensorineural hearing loss as the leading manifestation.
Hum Genet
; 142(8): 1077-1089, 2023 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-36445457
3.
Piepkorn type of osteochondrodysplasia: Defining the severe end of FLNB-related skeletal disorders in three fetuses and a 106-year-old exhibit.
Am J Med Genet A
; 176(7): 1559-1568, 2018 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29797497
4.
Hydrocephalus, agenesis of the corpus callosum, and cleft lip/palate represent frequent associations in fetuses with Peters' plus syndrome and B3GALTL mutations. Fetal PPS phenotypes, expanded by Dandy Walker cyst and encephalocele.
Prenat Diagn
; 33(1): 75-80, 2013 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-23161355
5.
Klinefelter twins presenting with discordant aneuploidies, acardia, forked umbilical cord and with different gonadal sex despite monozygosity.
Prenat Diagn
; 32(2): 173-9, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22418962
6.
DNAI2 mutations cause primary ciliary dyskinesia with defects in the outer dynein arm.
Am J Hum Genet
; 83(5): 547-58, 2008 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-18950741
7.
High Prevalence of MYO6 Variants in an Austrian Patient Cohort With Autosomal Dominant Hereditary Hearing Loss.
Otol Neurotol
; 42(6): e648-e657, 2021 07 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-33710140
8.
Disruption of the murine dynein light chain gene Tcte3-3 results in asthenozoospermia.
Reproduction
; 139(1): 99-111, 2010 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-19778998
9.
A Novel Variant in the TBC1D24 Lipid-Binding Pocket Causes Autosomal Dominant Hearing Loss: Evidence for a Genotype-Phenotype Correlation.
Front Cell Neurosci
; 14: 585669, 2020.
Artigo
em Inglês
| MEDLINE | ID: mdl-33281559
10.
Ccdc181 is a microtubule-binding protein that interacts with Hook1 in haploid male germ cells and localizes to the sperm tail and motile cilia.
Eur J Cell Biol
; 96(3): 276-288, 2017 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283191
11.
Disruption of murine Tcte3-3 induces tissue specific apoptosis via co-expression of Anxa5 and Pebp1.
Comput Biol Chem
; 53PB: 214-225, 2014 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-25462330
12.
Expansion of mutation spectrum, determination of mutation cluster regions and predictive structural classification of SPAST mutations in hereditary spastic paraplegia.
Eur J Hum Genet
; 17(2): 187-94, 2009 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-18701882
13.
The murine Dnali1 gene encodes a flagellar protein that interacts with the cytoplasmic dynein heavy chain 1.
Mol Reprod Dev
; 73(6): 784-94, 2006 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-16496424
14.
Spastin, the most commonly mutated protein in hereditary spastic paraplegia interacts with Reticulon 1 an endoplasmic reticulum protein.
Neurogenetics
; 7(2): 93-103, 2006 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-16602018
15.
ZFYVE27 (SPG33), a novel spastin-binding protein, is mutated in hereditary spastic paraplegia.
Am J Hum Genet
; 79(2): 351-7, 2006 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-16826525
16.
Further studies on knockout mice lacking a functional dynein heavy chain (MDHC7). 1. Evidence for a structural deficit in the axoneme.
Cell Motil Cytoskeleton
; 61(2): 65-73, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15838838
17.
Further studies on knockout mice lacking a functional dynein heavy chain (MDHC7). 2. A developmental explanation for the asthenozoospermia.
Cell Motil Cytoskeleton
; 61(2): 74-82, 2005 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-15838840
18.
Identification and analysis of axonemal dynein light chain 1 in primary ciliary dyskinesia patients.
Am J Respir Cell Mol Biol
; 33(1): 41-7, 2005 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-15845866
19.
The Hook1 gene is non-functional in the abnormal spermatozoon head shape (azh) mutant mouse.
Hum Mol Genet
; 11(14): 1647-58, 2002 Jul 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-12075009