Detalhe da pesquisa
1.
De novo variants in ATXN7L3 lead to developmental delay, hypotonia and distinctive facial features.
Brain
; 2024 May 16.
Artigo
em Inglês
| MEDLINE | ID: mdl-38753057
2.
Familial recurrence of incontinentia pigmenti due to de novo pathogenic variants in the IKBKG gene.
Am J Med Genet A
; 2024 Mar 27.
Artigo
em Inglês
| MEDLINE | ID: mdl-38536952
3.
AXIN2 germline testing in a French cohort validates pathogenic variants as a rare cause of predisposition to colorectal polyposis and cancer.
Genes Chromosomes Cancer
; 62(4): 210-222, 2023 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-36502525
4.
Further delineation of auriculocondylar syndrome based on 14 novel cases and reassessment of 25 published cases.
Hum Mutat
; 43(5): 582-594, 2022 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-35170830
5.
Mandibular-pelvic-patellar syndrome is a novel PITX1-related disorder due to alteration of PITX1 transactivation ability.
Hum Mutat
; 41(9): 1499-1506, 2020 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-32598510
6.
ACTB Loss-of-Function Mutations Result in a Pleiotropic Developmental Disorder.
Am J Hum Genet
; 101(6): 1021-1033, 2017 Dec 07.
Artigo
em Inglês
| MEDLINE | ID: mdl-29220674
7.
Blepharocheilodontic syndrome is a CDH1 pathway-related disorder due to mutations in CDH1 and CTNND1.
Genet Med
; 19(9): 1013-1021, 2017 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-28301459
8.
Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears.
Am J Hum Genet
; 93(6): 1118-25, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24268655
9.
Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome.
Hum Mutat
; 36(2): 187-90, 2015 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-25504470
10.
Confirmation of risk of cancer in blepharocheilodontic syndrome.
Genet Med
; 22(10): 1727-1728, 2020 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-32483297
11.
Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.
Mol Genet Metab
; 116(3): 215-20, 2015 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-26432670
12.
Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome.
J Med Genet
; 50(3): 174-86, 2013 Mar.
Artigo
em Inglês
| MEDLINE | ID: mdl-23315542
13.
Mutation spectrum in the large GTPase dynamin 2, and genotype-phenotype correlation in autosomal dominant centronuclear myopathy.
Hum Mutat
; 33(6): 949-59, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22396310
14.
Clinical evidence for a mandibular to maxillary transformation in Auriculocondylar syndrome.
Am J Med Genet A
; 164A(7): 1850-3, 2014 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-24677549