Detalhe da pesquisa
1.
Toward clinical and molecular dissection of frontonasal dysplasia with facial skin polyps: From Pai syndrome to differential diagnosis through a series of 27 patients.
Am J Med Genet A
; 188(7): 2036-2047, 2022 07.
Artigo
Inglês
| MEDLINE | ID: mdl-35445792
2.
Whole genome paired-end sequencing elucidates functional and phenotypic consequences of balanced chromosomal rearrangement in patients with developmental disorders.
J Med Genet
; 56(8): 526-535, 2019 08.
Artigo
Inglês
| MEDLINE | ID: mdl-30923172
3.
Clinical and molecular findings in 39 patients with KBG syndrome caused by deletion or mutation of ANKRD11.
Am J Med Genet A
; 170(11): 2847-2859, 2016 11.
Artigo
Inglês
| MEDLINE | ID: mdl-27605097
4.
Isolated isochromosomes i(X)(p10) and idic(X)(q13) are associated with myeloid malignancies and dysplastic features.
Am J Hematol
; 94(11): E285-E288, 2019 11.
Artigo
Inglês
| MEDLINE | ID: mdl-31379011
5.
Breakpoint mapping by next generation sequencing reveals causative gene disruption in patients carrying apparently balanced chromosome rearrangements with intellectual deficiency and/or congenital malformations.
J Med Genet
; 50(3): 144-50, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23315544
6.
NEXN Gene in Cardiomyopathies and Sudden Cardiac Deaths: Prevalence, Phenotypic Expression, and Prognosis.
Circ Genom Precis Med
; 17(1): e004285, 2024 Feb.
Artigo
Inglês
| MEDLINE | ID: mdl-38059363
7.
Molecular Diagnosis of Primary Cardiomyopathy in 231 Unrelated Pediatric Cases by Panel-Based Next-Generation Sequencing: A Major Focus on Five Carriers of Biallelic TNNI3 Pathogenic Variants.
Mol Diagn Ther
; 26(5): 551-560, 2022 09.
Artigo
Inglês
| MEDLINE | ID: mdl-35838873
8.
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature.
Andrology
; 10(8): 1625-1631, 2022 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36026611
9.
A novel synonymous variant in exon 1 of GNAS gene results in a cryptic splice site and causes pseudohypoparathyroidism type 1A and pseudo-pseudohypoparathyroidism in a French family.
Bone Rep
; 14: 101073, 2021 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-33997150
10.
Interphase fluorescent in situ hybridization detection of the 7q11.23 chromosomal inversion in a clinical laboratory: automated versus manual scoring.
Clin Chem Lab Med
; 51(4): e41-4, 2013 Apr.
Artigo
Inglês
| MEDLINE | ID: mdl-23072851
11.
The role of CNVs in the etiology of rare autosomal recessive disorders: the example of TRAPPC9-associated intellectual disability.
Eur J Hum Genet
; 26(1): 143-148, 2018 01.
Artigo
Inglês
| MEDLINE | ID: mdl-29187737
12.
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases.
Eur J Med Genet
; 52(5): 291-6, 2009.
Artigo
Inglês
| MEDLINE | ID: mdl-19505601
13.
Differences in nuclear positioning of 1q12 pericentric heterochromatin in normal and tumor B lymphocytes with 1q rearrangements.
Genes Chromosomes Cancer
; 43(4): 339-49, 2005 Aug.
Artigo
Inglês
| MEDLINE | ID: mdl-15846776