Detalhe da pesquisa
1.
Loss of SMPD4 Causes a Developmental Disorder Characterized by Microcephaly and Congenital Arthrogryposis.
Am J Hum Genet
; 105(4): 689-705, 2019 10 03.
Artigo
em Inglês
| MEDLINE | ID: mdl-31495489
2.
Disruption of autoregulatory feedback by a mutation in a remote, ultraconserved PAX6 enhancer causes aniridia.
Am J Hum Genet
; 93(6): 1126-34, 2013 Dec 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-24290376
3.
Assessment of copy number variations in 120 patients with Poland syndrome.
BMC Med Genet
; 17(1): 89, 2016 Nov 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-27884122
4.
De novo deletion of chromosome 11q12.3 in monozygotic twins affected by Poland Syndrome.
BMC Med Genet
; 15: 63, 2014 May 30.
Artigo
em Inglês
| MEDLINE | ID: mdl-24885342
5.
Abnormalities of pubertal development and gonadal function in Noonan syndrome.
Front Endocrinol (Lausanne)
; 14: 1213098, 2023.
Artigo
em Inglês
| MEDLINE | ID: mdl-37576960
6.
Novel SYNGAP1 Variant in an Adult Individual Affected by Intellectual Disability and Epilepsy: A Cold Case Solved through Whole-Exome Sequencing.
Mol Syndromol
; 14(5): 433-438, 2023 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-37915395
7.
Familial Poland anomaly revisited.
Am J Med Genet A
; 158A(1): 140-9, 2012 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-22110015
8.
An example of parenchymal renal sparing in the context of complex malformations due to a novel mutation in the PBX1 gene.
Birth Defects Res
; 114(12): 674-681, 2022 07 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-35751431
9.
Renal involvement and Strømme syndrome.
Clin Kidney J
; 14(1): 439-441, 2021 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-33564452
10.
Case Report: Whole Exome Sequencing Revealed Disease-Causing Variants in Two Genes in a Patient With Autism Spectrum Disorder, Intellectual Disability, Hyperactivity, Sleep and Gastrointestinal Disturbances.
Front Genet
; 12: 625564, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-33679889
11.
Neurodevelopmental Disorders in Patients With Complex Phenotypes and Potential Complex Genetic Basis Involving Non-Coding Genes, and Double CNVs.
Front Genet
; 12: 732002, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-34621295
12.
Consensus based recommendations for diagnosis and medical management of Poland syndrome (sequence).
Orphanet J Rare Dis
; 15(1): 201, 2020 08 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-32758259
13.
Intragenic duplication of KCNQ5 gene results in aberrant splicing leading to a premature termination codon in a patient with intellectual disability.
Eur J Med Genet
; 62(9): 103555, 2019 Sep.
Artigo
em Inglês
| MEDLINE | ID: mdl-30359776
14.
P63 modulates the expression of the WDFY2 gene which is implicated in cancer regulation and limb development.
Biosci Rep
; 39(12)2019 12 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-31789342
15.
Recurrence and Familial Inheritance of Intronic NIPBL Pathogenic Variant Associated With Mild CdLS.
Front Neurol
; 9: 967, 2018.
Artigo
em Inglês
| MEDLINE | ID: mdl-30538663
16.
Overexpression of the C-type natriuretic peptide (CNP) is associated with overgrowth and bone anomalies in an individual with balanced t(2;7) translocation.
Hum Mutat
; 28(7): 724-31, 2007 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-17373680
17.
A deletion 3' to the PAX6 gene in familial aniridia cases.
Mol Vis
; 13: 1245-50, 2007 Jul 23.
Artigo
em Inglês
| MEDLINE | ID: mdl-17679951
18.
A multi-method approach to the molecular diagnosis of overt and borderline 11p15.5 defects underlying Silver-Russell and Beckwith-Wiedemann syndromes.
Clin Epigenetics
; 8: 23, 2016.
Artigo
em Inglês
| MEDLINE | ID: mdl-26933465
19.
Array-CGH analysis in a patient with WAGR syndrome and a reciprocal translocation t(2;11) inherited from the normal father with double translocation.
Am J Med Genet A
; 152A(8): 2130-3, 2010 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-20635368
20.
Thrombocytopenia-absent radius (TAR) syndrome due to compound inheritance for a 1q21.1 microdeletion and a low-frequency noncoding RBM8A SNP: a new familial case.
Mol Cytogenet
; 8: 87, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-26550033