Detalhe da pesquisa
1.
Intellectual disability associated with craniofacial dysmorphism, cleft palate, and congenital heart defect due to a de novo MEIS2 mutation: A clinical longitudinal study.
Am J Med Genet A
; 185(4): 1216-1221, 2021 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-33427397
2.
Compound heterozygosity of low-frequency promoter deletions and rare loss-of-function mutations in TXNL4A causes Burn-McKeown syndrome.
Am J Hum Genet
; 95(6): 698-707, 2014 Dec 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-25434003
3.
A comprehensive molecular study on Coffin-Siris and Nicolaides-Baraitser syndromes identifies a broad molecular and clinical spectrum converging on altered chromatin remodeling.
Hum Mol Genet
; 22(25): 5121-35, 2013 Dec 20.
Artigo
em Inglês
| MEDLINE | ID: mdl-23906836
4.
Exome sequencing unravels unexpected differential diagnoses in individuals with the tentative diagnosis of Coffin-Siris and Nicolaides-Baraitser syndromes.
Hum Genet
; 134(6): 553-68, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25724810
5.
De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum.
Hum Genet
; 134(1): 97-109, 2015 Jan.
Artigo
em Inglês
| MEDLINE | ID: mdl-25326669
6.
Walking the interactome for candidate prioritization in exome sequencing studies of Mendelian diseases.
Bioinformatics
; 30(22): 3215-22, 2014 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-25078397
7.
Clinical interpretation of CNVs with cross-species phenotype data.
J Med Genet
; 51(11): 766-772, 2014 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-25280750
8.
Wide clinical variability in conditions with coarse facial features and hypertrichosis caused by mutations in ABCC9.
Am J Med Genet A
; 161A(2): 295-300, 2013 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23307537
9.
TNF-alpha differentially modulates ion channels of nociceptive neurons.
Neurosci Lett
; 434(3): 293-8, 2008 Apr 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-18314270
10.
Cantú Syndrome Associated with Ovarian Agenesis.
Mol Syndromol
; 8(4): 206-210, 2017 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-28690487
11.
Bainbridge-Ropers syndrome caused by loss-of-function variants in ASXL3: a recognizable condition.
Eur J Hum Genet
; 25(2): 183-191, 2017 02.
Artigo
em Inglês
| MEDLINE | ID: mdl-27901041
12.
Nodular scabies: hypersensitivity reaction or infection?
J Dtsch Dermatol Ges
; 9(10): 840-1, 2011 Oct.
Artigo
em Inglês, Alemão
| MEDLINE | ID: mdl-21722310
13.
Loss-of-function variants of SETD5 cause intellectual disability and the core phenotype of microdeletion 3p25.3 syndrome.
Eur J Hum Genet
; 23(6): 753-60, 2015 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-25138099
14.
160 kb deletion in ISPD unmasking a recessive mutation in a patient with Walker-Warburg syndrome.
Eur J Med Genet
; 56(12): 689-94, 2013 Dec.
Artigo
em Inglês
| MEDLINE | ID: mdl-24120487
15.
X-linked intellectual disability type Nascimento is a clinically distinct, probably underdiagnosed entity.
Orphanet J Rare Dis
; 8: 146, 2013 Sep 21.
Artigo
em Inglês
| MEDLINE | ID: mdl-24053514
16.
Oto-facial syndrome and esophageal atresia, intellectual disability and zygomatic anomalies - expanding the phenotypes associated with EFTUD2 mutations.
Orphanet J Rare Dis
; 8: 110, 2013 Jul 24.
Artigo
em Inglês
| MEDLINE | ID: mdl-23879989
17.
A patient with a de-novo deletion 3p25.3 and features overlapping with Rubinstein-Taybi syndrome.
Clin Dysmorphol
; 23(2): 67-70, 2014 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-24561647