Detalhe da pesquisa
1.
Homozygous GLI3 variants observed in three unrelated patients presenting with syndromic polydactyly.
Am J Med Genet A
; 185(12): 3831-3837, 2021 12.
Artigo
Inglês
| MEDLINE | ID: mdl-34296525
2.
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
Inglês
| MEDLINE | ID: mdl-26166481
3.
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
Inglês
| MEDLINE | ID: mdl-29681083
4.
Effect of Cell-Free DNA Screening vs Direct Invasive Diagnosis on Miscarriage Rates in Women With Pregnancies at High Risk of Trisomy 21: A Randomized Clinical Trial.
JAMA
; 320(6): 557-565, 2018 08 14.
Artigo
Inglês
| MEDLINE | ID: mdl-30120476
5.
Corpus Callosum Abnormalities and Short Femurs in Beckwith-Wiedemann Syndrome: A Report of Two Fetal Cases.
Fetal Pediatr Pathol
; 37(6): 411-417, 2018 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-30595068
6.
Large Duplications Can Be Benign Copy Number Variants: A Case of a 3.6-Mb Xq21.33 Duplication.
Cytogenet Genome Res
; 151(3): 115-118, 2017.
Artigo
Inglês
| MEDLINE | ID: mdl-28273668
7.
A tumor profile in Patau syndrome (trisomy 13).
Am J Med Genet A
; 173(8): 2088-2096, 2017 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-28544599
8.
A tumor profile in Edwards syndrome (trisomy 18).
Am J Med Genet C Semin Med Genet
; 172(3): 296-306, 2016 09.
Artigo
Inglês
| MEDLINE | ID: mdl-27474103
9.
First fetal case of the 8q24.3 contiguous genes syndrome.
Am J Med Genet A
; 170A(1): 239-42, 2016 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-26437074
10.
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
Inglês
| MEDLINE | ID: mdl-26663670
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
Inglês
| MEDLINE | ID: mdl-17558409
12.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22883145
13.
A French Approach to Test Fetuses with Ultrasound Abnormalities Using a Customized Microarray as First-Tier Genetic Test.
Cytogenet Genome Res
; 147(2-3): 103-10, 2015.
Artigo
Inglês
| MEDLINE | ID: mdl-26735902
14.
Phenotype-genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature.
Am J Med Genet A
; 167A(1): 111-22, 2015 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-25425167
15.
[HIGH INCIDENCE AND BROAD GENETIC VARIABILITY OF MECKEL-GRUBER SYNDROME IN THE ARAB POPULATION RESIDING IN NORTH-EAST ISRAEL].
Harefuah
; 154(10): 632-6, 676, 2015 Oct.
Artigo
Hebraico
| MEDLINE | ID: mdl-26742224
16.
A homozygous PDE6D mutation in Joubert syndrome impairs targeting of farnesylated INPP5E protein to the primary cilium.
Hum Mutat
; 35(1): 137-46, 2014 Jan.
Artigo
Inglês
| MEDLINE | ID: mdl-24166846
17.
Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients.
Hum Mutat
; 35(4): 478-85, 2014 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-24470203
18.
17q21.31 microdeletion: brain anomalies leading to prenatal diagnosis.
Cytogenet Genome Res
; 144(3): 178-82, 2014.
Artigo
Inglês
| MEDLINE | ID: mdl-25402493
19.
Distinct effects of allelic NFIX mutations on nonsense-mediated mRNA decay engender either a Sotos-like or a Marshall-Smith syndrome.
Am J Hum Genet
; 87(2): 189-98, 2010 Aug 13.
Artigo
Inglês
| MEDLINE | ID: mdl-20673863
20.
CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome.
Gastroenterology
; 142(3): 453-462.e3, 2012 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-22155368