Detalhe da pesquisa
1.
A novel non-recurrent CNV deletion involving TBX4 and leaving TBX2 intact causes congenital alveolar dysplasia.
Clin Genet
; 105(2): 190-195, 2024 02.
Artigo
Inglês
| MEDLINE | ID: mdl-37821225
2.
SMC1A epilepsy syndrome: clinical data from a large international cohort.
Am J Med Genet A
; : e63577, 2024 Feb 29.
Artigo
Inglês
| MEDLINE | ID: mdl-38421079
3.
Biallelic variants in PIGN cause Fryns syndrome, multiple congenital anomalies-hypotonia-seizures syndrome, and neurologic phenotypes: A genotype-phenotype correlation study.
Genet Med
; 25(1): 37-48, 2023 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36322149
4.
Expression Quantitative Trait Methylation Analysis Identifies Whole Blood Molecular Footprint in Fetal Alcohol Spectrum Disorder (FASD).
Int J Mol Sci
; 24(7)2023 Apr 01.
Artigo
Inglês
| MEDLINE | ID: mdl-37047575
5.
Destabilization of mutated human PUS3 protein causes intellectual disability.
Hum Mutat
; 43(12): 2063-2078, 2022 12.
Artigo
Inglês
| MEDLINE | ID: mdl-36125428
6.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 104(2): 319-330, 2019 02 07.
Artigo
Inglês
| MEDLINE | ID: mdl-30639322
7.
Prenatal clinical manifestations in individuals with COL4A1/2 variants.
J Med Genet
; 58(8): 505-513, 2021 08.
Artigo
Inglês
| MEDLINE | ID: mdl-32732225
8.
Broad phenotypic spectrum of germ line 7p12.1 microdeletions encompassing the IKZF1 gene includes predisposition to acute lymphoblastic leukemia.
Genes Chromosomes Cancer
; 60(2): 79-87, 2021 02.
Artigo
Inglês
| MEDLINE | ID: mdl-33135230
9.
Interfamilial clinical variability in four Polish families with cranioectodermal dysplasia and identical compound heterozygous variants in WDR35.
Am J Med Genet A
; 185(4): 1195-1203, 2021 04.
Artigo
Inglês
| MEDLINE | ID: mdl-33421337
10.
A pro-inflammatory phenotype is associated with behavioural traits in children with Prader-Willi syndrome.
Eur Child Adolesc Psychiatry
; 30(6): 899-908, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32495042
11.
Recurrent arginine substitutions in the ACTG2 gene are the primary driver of disease burden and severity in visceral myopathy.
Hum Mutat
; 41(3): 641-654, 2020 03.
Artigo
Inglês
| MEDLINE | ID: mdl-31769566
12.
Homozygous mutation in the Neurofascin gene affecting the glial isoform of Neurofascin causes severe neurodevelopment disorder with hypotonia, amimia and areflexia.
Hum Mol Genet
; 27(21): 3669-3674, 2018 11 01.
Artigo
Inglês
| MEDLINE | ID: mdl-30124836
13.
Evidence of the milder phenotypic spectrum of c.1582G>A PIGT variant: Delineation based on seven novel Polish patients.
Clin Genet
; 98(5): 468-476, 2020 11.
Artigo
Inglês
| MEDLINE | ID: mdl-32725661
14.
Mapping of breakpoints in balanced chromosomal translocations by shallow whole-genome sequencing points to EFNA5, BAHD1 and PPP2R5E as novel candidates for genes causing human Mendelian disorders.
J Med Genet
; 56(2): 104-112, 2019 02.
Artigo
Inglês
| MEDLINE | ID: mdl-30352868
15.
Overlapping SETBP1 gain-of-function mutations in Schinzel-Giedion syndrome and hematologic malignancies.
PLoS Genet
; 13(3): e1006683, 2017 03.
Artigo
Inglês
| MEDLINE | ID: mdl-28346496
16.
The Impact of Congenital Esophageal Atresia on the Family Functioning.
J Pediatr Nurs
; 50: e85-e90, 2020.
Artigo
Inglês
| MEDLINE | ID: mdl-31027866
17.
Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement.
Clin Genet
; 95(4): 462-478, 2019 04.
Artigo
Inglês
| MEDLINE | ID: mdl-30677142
18.
ZMIZ1 Variants Cause a Syndromic Neurodevelopmental Disorder.
Am J Hum Genet
; 106(1): 137, 2020 Jan 02.
Artigo
Inglês
| MEDLINE | ID: mdl-31879022
19.
Novel de novo mutation affecting two adjacent aminoacids in the EED gene in a patient with Weaver syndrome.
J Hum Genet
; 63(4): 517-520, 2018 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-29410511
20.
MAP2K2 mutation as a cause of cardio-facio-cutaneous syndrome in an infant with a severe and fatal course of the disease.
Am J Med Genet A
; 176(7): 1670-1674, 2018 07.
Artigo
Inglês
| MEDLINE | ID: mdl-29799162