Detalhe da pesquisa
1.
ADGRL1 haploinsufficiency causes a variable spectrum of neurodevelopmental disorders in humans and alters synaptic activity and behavior in a mouse model.
Am J Hum Genet
; 109(8): 1436-1457, 2022 08 04.
Artigo
em Inglês
| MEDLINE | ID: mdl-35907405
2.
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features.
Hum Mutat
; 33(4): 728-40, 2012 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-22290657
3.
HOXC4 homeoprotein efficiently expands human hematopoietic stem cells and triggers similar molecular alterations as HOXB4.
Haematologica
; 97(2): 168-78, 2012 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-22298821
4.
Recurrent mutations in the CDKL5 gene: genotype-phenotype relationships.
Am J Med Genet A
; 158A(7): 1612-9, 2012 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-22678952
5.
Pre- and postnatal phenotype of 6p25 deletions involving the FOXC1 gene.
Am J Med Genet A
; 158A(10): 2430-8, 2012 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-22903608
6.
Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis.
Am J Med Genet A
; 152A(7): 1781-8, 2010 Jul.
Artigo
em Inglês
| MEDLINE | ID: mdl-20583184
7.
Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
Eur J Med Genet
; 63(4): 103814, 2020 Apr.
Artigo
em Inglês
| MEDLINE | ID: mdl-31770597
8.
Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases.
Eur J Hum Genet
; 25(6): 694-701, 2017 06.
Artigo
em Inglês
| MEDLINE | ID: mdl-28422132
9.
Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder.
Mol Autism
; 6: 19, 2015.
Artigo
em Inglês
| MEDLINE | ID: mdl-25844147
10.
Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.
Eur J Hum Genet
; 23(8): 1010-8, 2015 Aug.
Artigo
em Inglês
| MEDLINE | ID: mdl-25351778
11.
The E148Q MEFV allele is not implicated in the development of familial Mediterranean fever.
Hum Mutat
; 22(4): 339-40, 2003 Oct.
Artigo
em Inglês
| MEDLINE | ID: mdl-12955725
12.
Mutations in the C-terminus of CDKL5: proceed with caution.
Eur J Hum Genet
; 22(2): 270-2, 2014 Feb.
Artigo
em Inglês
| MEDLINE | ID: mdl-23756444
13.
First cryptic balanced reciprocal translocation mosaicism and familial transmission.
Am J Med Genet A
; 146A(22): 2971-4, 2008 Nov 15.
Artigo
em Inglês
| MEDLINE | ID: mdl-18925677
14.
Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies.
Eur J Hum Genet
; 20(5): 527-33, 2012 May.
Artigo
em Inglês
| MEDLINE | ID: mdl-22234157
15.
Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.
Eur J Med Genet
; 53(5): 303-8, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-20599530
16.
Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.
Eur J Med Genet
; 53(2): 66-75, 2010.
Artigo
em Inglês
| MEDLINE | ID: mdl-19878743
17.
Cerebral small-vessel disease associated with COL4A1 and COL4A2 gene duplications.
Neurology
; 83(11): 1029-31, 2014 Sep 09.
Artigo
em Inglês
| MEDLINE | ID: mdl-25098541
18.
Chromosomal microarray analysis in ocular developmental anomalies.
Expert Rev Mol Diagn
; 12(5): 425-7, 2012 Jun.
Artigo
em Inglês
| MEDLINE | ID: mdl-22702357
19.
Retrospective diagnosis of Pallister-Killian syndrome by CGH array.
Fetal Diagn Ther
; 21(6): 485-8, 2006.
Artigo
em Inglês
| MEDLINE | ID: mdl-16969000
20.
Clinical evaluation of a reverse hybridization assay for the molecular detection of twelve MEFV gene mutations.
Clin Chem
; 49(11): 1942-5, 2003 Nov.
Artigo
em Inglês
| MEDLINE | ID: mdl-14578331