Detalhe da pesquisa
1.
Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development.
Reprod Biol Endocrinol
; 21(1): 2, 2023 Jan 11.
Artigo
Inglês
| MEDLINE | ID: mdl-36631813
2.
Neuronal migration genes and a familial translocation t (3;17): candidate genes implicated in the phenotype.
BMC Med Genet
; 21(1): 26, 2020 02 06.
Artigo
Inglês
| MEDLINE | ID: mdl-32028920
3.
Small supernumerary marker chromosomes (sSMC) and male infertility: characterization of five new cases, review of the literature, and perspectives.
J Assist Reprod Genet
; 37(7): 1729-1736, 2020 Jul.
Artigo
Inglês
| MEDLINE | ID: mdl-32399795
4.
TCTN3 mutations cause Mohr-Majewski syndrome.
Am J Hum Genet
; 91(2): 372-8, 2012 Aug 10.
Artigo
Inglês
| MEDLINE | ID: mdl-22883145
5.
Genetic investigation of the ubiquitin-protein ligase E3A gene as putative target in Angelman syndrome.
World J Clin Cases
; 12(3): 503-516, 2024 Jan 26.
Artigo
Inglês
| MEDLINE | ID: mdl-38322471
6.
Anomalies in Human Sex Determination: Usefulness of a Combined Cytogenetic Approach to Characterize an Additional Case with Xp Functional Disomy Associated with 46,XY Gonadal Dysgenesis
J Clin Res Pediatr Endocrinol
; 15(1): 25-34, 2023 02 27.
Artigo
Inglês
| MEDLINE | ID: mdl-35984215
7.
Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review.
Mol Cytogenet
; 15(1): 42, 2022 Oct 03.
Artigo
Inglês
| MEDLINE | ID: mdl-36192753
8.
Case report: 7p22.3 deletion and 8q24.3 duplication in a patient with epilepsy and psychomotor delay-Does both possibly act to modulate a candidate gene region for the patient's phenotype?
Front Genet
; 13: 1061539, 2022.
Artigo
Inglês
| MEDLINE | ID: mdl-36778913
9.
BBS10 mutations are common in 'Meckel'-type cystic kidneys.
J Med Genet
; 47(12): 848-52, 2010 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-20805367
10.
Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia.
J Assist Reprod Genet
; 28(10): 971-7, 2011 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-21853383
11.
Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.
Eur J Med Genet
; 64(9): 104285, 2021 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-34229114
12.
Disorders of sex development in Wolf-Hirschhorn syndrome: a genotype-phenotype correlation and MSX1 as candidate gene.
Mol Cytogenet
; 14(1): 12, 2021 Feb 24.
Artigo
Inglês
| MEDLINE | ID: mdl-33627176
13.
High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy.
Hum Mutat
; 31(10): 1134-41, 2010 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-20690116
14.
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies.
Hum Mutat
; 31(5): E1319-31, 2010 May.
Artigo
Inglês
| MEDLINE | ID: mdl-20232449
15.
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation.
Hum Mutat
; 30(11): 1574-82, 2009 Nov.
Artigo
Inglês
| MEDLINE | ID: mdl-19777577
16.
Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization.
Mol Cytogenet
; 12: 5, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-30774715
17.
Bloom syndrome in children: unusual case of early onset lung damage.
Clin Dysmorphol
; 32(2): 95-96, 2023 04 01.
Artigo
Inglês
| MEDLINE | ID: mdl-36876347
18.
Subtelomeric Rearrangements in Patients with Recurrent Miscarriage.
Int J Fertil Steril
; 12(3): 218-222, 2018 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-29935067
19.
Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature.
J Pediatr Genet
; 6(4): 215-221, 2017 Dec.
Artigo
Inglês
| MEDLINE | ID: mdl-29142763
20.
Genomic Microarray in Intellectual Disability: The Usefulness of Existing Systems in the Interpretation of Copy Number Variation.
J Pediatr Genet
; 6(2): 84-91, 2017 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-28496995