Detalhe da pesquisa
1.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 24(8): 1753-1760, 2022 08.
Artigo
em Inglês
| MEDLINE | ID: mdl-35579625
2.
P63-related disorders: Dermatological characteristics in 22 patients.
Exp Dermatol
; 28(10): 1190-1195, 2019 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-31585491
3.
Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.
Am J Hum Genet
; 97(2): 311-8, 2015 Aug 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-26166481
4.
Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.
Genet Med
; 25(2): 100004, 2023 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-36745127
5.
Novel de novo ZBTB20 mutations in three cases with Primrose syndrome and constant corpus callosum anomalies.
Am J Med Genet A
; 176(5): 1091-1098, 2018 05.
Artigo
em Inglês
| MEDLINE | ID: mdl-29681083
6.
Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.
Hum Genet
; 136(4): 463-479, 2017 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-28283832
7.
Clinical, genetic and neuropathological findings in a series of 138 fetuses with a corpus callosum malformation.
Birth Defects Res A Clin Mol Teratol
; 106(1): 36-46, 2016 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-26663670
8.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
em Inglês
| MEDLINE | ID: mdl-22883145
9.
Phenotypic Variability with SLURP1 Mutations and Diffuse Palmoplantar Keratoderma.
Acta Derm Venereol
; 100(4): adv00060, 2020 Feb 25.
Artigo
em Inglês
| MEDLINE | ID: mdl-31944258
10.
Contiguous gene deletion of TBX5 and TBX3 leads to a varible phenotype with combined features of Holt-Oram and ulnar-mammary syndromes.
Am J Med Genet A
; 161A(7): 1797-802, 2013 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-23713051
11.
Novel KIF7 mutations extend the phenotypic spectrum of acrocallosal syndrome.
J Med Genet
; 49(11): 713-20, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23125460
12.
Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations.
J Med Genet
; 49(11): 698-707, 2012 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-23024289
13.
ARID1B mutations are the major genetic cause of corpus callosum anomalies in patients with intellectual disability.
Brain
; 139(11): e64, 2016 11 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-27474218
14.
Bothnian Palmoplantar Keratoderma: Further Delineation of the Associated Phenotype.
Genes (Basel)
; 13(12)2022 12 14.
Artigo
em Inglês
| MEDLINE | ID: mdl-36553627
15.
Corrigendum: TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Front Mol Neurosci
; 15: 871557, 2022.
Artigo
em Inglês
| MEDLINE | ID: mdl-35571366
16.
Prenatal-onset of congenital neuronal ceroid lipofuscinosis with a novel CTSD mutation.
Birth Defects Res
; 113(18): 1324-1332, 2021 11.
Artigo
em Inglês
| MEDLINE | ID: mdl-34491000
17.
TALPID3/KIAA0586 Regulates Multiple Aspects of Neuromuscular Patterning During Gastrointestinal Development in Animal Models and Human.
Front Mol Neurosci
; 14: 757646, 2021.
Artigo
em Inglês
| MEDLINE | ID: mdl-35002618
18.
A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern.
Birth Defects Res
; 110(7): 598-602, 2018 04 17.
Artigo
em Inglês
| MEDLINE | ID: mdl-29356416
19.
In utero ultrasound diagnosis of corpus callosum agenesis leading to the identification of orofaciodigital type 1 syndrome in female fetuses.
Birth Defects Res
; 110(4): 382-389, 2018 03 01.
Artigo
em Inglês
| MEDLINE | ID: mdl-29193896
20.
Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.
Birth Defects Res
; 109(19): 1586-1595, 2017 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-28758373