Detalhe da pesquisa
1.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(6): 1095-1114, 2021 06 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-33991472
2.
Bi-allelic variants in the mitochondrial RNase P subunit PRORP cause mitochondrial tRNA processing defects and pleiotropic multisystem presentations.
Am J Hum Genet
; 108(11): 2195-2204, 2021 11 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-34715011
3.
Variants in myelin regulatory factor (MYRF) cause autosomal dominant and syndromic nanophthalmos in humans and retinal degeneration in mice.
PLoS Genet
; 15(5): e1008130, 2019 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-31048900
4.
Bi-allelic premature truncating variants in LTBP1 cause cutis laxa syndrome.
Am J Hum Genet
; 108(12): 2386-2388, 2021 Dec 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-34861177
5.
A homozygous missense variant in CHRM3 associated with familial urinary bladder disease.
Clin Genet
; 96(6): 515-520, 2019 12.
Artigo
em Inglês
| MEDLINE | ID: mdl-31441039
6.
22q11.2 duplications in a UK cohort with bladder exstrophy-epispadias complex.
Am J Med Genet A
; 179(3): 404-409, 2019 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-30628148
7.
Heimler Syndrome Is Caused by Hypomorphic Mutations in the Peroxisome-Biogenesis Genes PEX1 and PEX6.
Am J Hum Genet
; 97(4): 535-45, 2015 Oct 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-26387595
8.
ORAI1 Mutations with Distinct Channel Gating Defects in Tubular Aggregate Myopathy.
Hum Mutat
; 38(4): 426-438, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28058752
9.
Mutations in CKAP2L, the human homolog of the mouse Radmis gene, cause Filippi syndrome.
Am J Hum Genet
; 95(5): 622-32, 2014 Nov 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-25439729
10.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
11.
Homozygous mutation in PTRH2 gene causes progressive sensorineural deafness and peripheral neuropathy.
Am J Med Genet A
; 173(4): 1051-1055, 2017 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-28328138
12.
The Contribution of Whole Gene Deletions and Large Rearrangements to the Mutation Spectrum in Inherited Tumor Predisposing Syndromes.
Hum Mutat
; 37(3): 250-6, 2016 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-26615784
13.
LRIG2 mutations cause urofacial syndrome.
Am J Hum Genet
; 92(2): 259-64, 2013 Feb 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-23313374
14.
Perrault syndrome is caused by recessive mutations in CLPP, encoding a mitochondrial ATP-dependent chambered protease.
Am J Hum Genet
; 92(4): 605-13, 2013 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-23541340
15.
Leri's pleonosteosis, a congenital rheumatic disease, results from microduplication at 8q22.1 encompassing GDF6 and SDC2 and provides insight into systemic sclerosis pathogenesis.
Ann Rheum Dis
; 74(6): 1249-56, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-24442880
16.
Deletion of 19q13 reveals clinical overlap with Dubowitz syndrome.
J Hum Genet
; 60(12): 781-5, 2015 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-26377242
17.
Agnathia-otocephaly complex and asymmetric velopharyngeal insufficiency due to an in-frame duplication in OTX2.
J Hum Genet
; 60(4): 199-202, 2015 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-25589041
18.
Whole-Exome sequencing identifies FAM20A mutations as a cause of amelogenesis imperfecta and gingival hyperplasia syndrome.
Am J Hum Genet
; 88(5): 616-20, 2011 May 13.
Artigo
em Inglês
| MEDLINE | ID: mdl-21549343
19.
Protein kinase cδ deficiency causes mendelian systemic lupus erythematosus with B cell-defective apoptosis and hyperproliferation.
Arthritis Rheum
; 65(8): 2161-71, 2013 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-23666743
20.
Deep intronic variant causes aberrant splicing of ATP7A in a family with a variable occipital horn syndrome phenotype.
Eur J Med Genet
; 67: 104907, 2024 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-38141875