Detalhe da pesquisa
1.
Variants in the degron of AFF3 are associated with intellectual disability, mesomelic dysplasia, horseshoe kidney, and epileptic encephalopathy.
Am J Hum Genet
; 108(5): 857-873, 2021 05 06.
Artigo
Inglês
| MEDLINE | ID: mdl-33961779
2.
De Novo Mutations in SON Disrupt RNA Splicing of Genes Essential for Brain Development and Metabolism, Causing an Intellectual-Disability Syndrome.
Am J Hum Genet
; 99(3): 711-719, 2016 09 01.
Artigo
Inglês
| MEDLINE | ID: mdl-27545680
3.
Concurrent Chondrodysplasia Punctata Type 2 (Conradi-Hunermann-Happle Syndrome) and Ichthyosis Vulgaris in Teenaged Twin Girls.
Pediatr Dermatol
; 34(5): e245-e248, 2017 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-28730607
4.
Fibrochondrogenesis results from mutations in the COL11A1 type XI collagen gene.
Am J Hum Genet
; 87(5): 708-12, 2010 Nov 12.
Artigo
Inglês
| MEDLINE | ID: mdl-21035103
5.
BMPER mutation in diaphanospondylodysostosis identified by ancestral autozygosity mapping and targeted high-throughput sequencing.
Am J Hum Genet
; 87(4): 532-7, 2010 Oct 08.
Artigo
Inglês
| MEDLINE | ID: mdl-20869035
6.
Mutations in the gene encoding the calcium-permeable ion channel TRPV4 produce spondylometaphyseal dysplasia, Kozlowski type and metatropic dysplasia.
Am J Hum Genet
; 84(3): 307-15, 2009 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-19232556
7.
Dominant and recessive forms of fibrochondrogenesis resulting from mutations at a second locus, COL11A2.
Am J Med Genet A
; 158A(2): 309-14, 2012 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-22246659
8.
TUBB4A de novo mutations cause isolated hypomyelination.
Neurology
; 83(10): 898-902, 2014 Sep 02.
Artigo
Inglês
| MEDLINE | ID: mdl-25085639
9.
Gain-of-function mutations in TRPV4 cause autosomal dominant brachyolmia.
Nat Genet
; 40(8): 999-1003, 2008 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-18587396