Detalhe da pesquisa
1.
Loss-of-Function Mutations in LGI4, a Secreted Ligand Involved in Schwann Cell Myelination, Are Responsible for Arthrogryposis Multiplex Congenita.
Am J Hum Genet;
100(4): 659-665, 2017 Apr 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28318499
2.
Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.
Am J Hum Genet;
101(5): 803-814, 2017 Nov 02.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29100091
3.
Integrated clinical and omics approach to rare diseases: novel genes and oligogenic inheritance in holoprosencephaly.
Brain;
142(1): 35-49, 2019 01 01.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30508070
4.
Mutations in GLDN, Encoding Gliomedin, a Critical Component of the Nodes of Ranvier, Are Responsible for Lethal Arthrogryposis.
Am J Hum Genet;
99(4): 928-933, 2016 Oct 06.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27616481
5.
Fetal phenotype of Rubinstein-Taybi syndrome caused by CREBBP mutations.
Clin Genet;
95(3): 420-426, 2019 03.
Artigo
em Inglês
| MEDLINE
| ID: mdl-30633342
6.
Variable prenatal presentation of Pfeiffer syndrome: Suggested aids to prenatal sonographic diagnosis.
Prenat Diagn;
38(5): 349-356, 2018 04.
Artigo
em Inglês
| MEDLINE
| ID: mdl-29436723
7.
Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.
J Am Soc Nephrol;
28(10): 2901-2914, 2017 Oct.
Artigo
em Inglês
| MEDLINE
| ID: mdl-28566479
8.
Prognosis of Fetal Parenchymal Cerebral Lesions without Ventriculomegaly in Congenital Toxoplasmosis Infection.
Fetal Diagn Ther;
41(1): 8-14, 2017.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27093552
9.
Mutational Spectrum in Holoprosencephaly Shows That FGF is a New Major Signaling Pathway.
Hum Mutat;
37(12): 1329-1339, 2016 12.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27363716
10.
Fetal anomalies associated with HNF1B mutations: report of 20 autopsy cases.
Prenat Diagn;
36(8): 744-51, 2016 Aug.
Artigo
em Inglês
| MEDLINE
| ID: mdl-27297286
11.
The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome.
Nat Genet;
39(7): 875-81, 2007 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-17558409
12.
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly.
Am J Hum Genet;
91(6): 1135-43, 2012 Dec 07.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23217329
13.
Severe X-linked chondrodysplasia punctata in nine new female fetuses.
Prenat Diagn;
35(7): 675-84, 2015 Jul.
Artigo
em Inglês
| MEDLINE
| ID: mdl-25754886
14.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat;
35(4): 478-85, 2014 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24470203
15.
Mutations in genes in the renin-angiotensin system are associated with autosomal recessive renal tubular dysgenesis.
Nat Genet;
37(9): 964-8, 2005 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-16116425
16.
Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases.
Acta Neuropathol;
126(3): 427-42, 2013 Sep.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23820807
17.
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.
Brain;
135(Pt 2): 469-82, 2012 Feb.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22323514
18.
Prenatal diagnosis of exophytic nevus sebaceous of the scalp.
Prenat Diagn;
33(13): 1305-7, 2013 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-24122891
19.
NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases.
J Med Genet;
49(4): 227-33, 2012 Apr.
Artigo
em Inglês
| MEDLINE
| ID: mdl-22499340
20.
EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia.
J Med Genet;
49(12): 737-46, 2012 Dec.
Artigo
em Inglês
| MEDLINE
| ID: mdl-23188108