Detalhe da pesquisa
1.
Expanding the phenotype spectrum associated with pathogenic variants in the COL2A1 and COL11A1 genes.
Ann Hum Genet
; 84(5): 380-392, 2020 09.
Artigo
Inglês
| MEDLINE | ID: mdl-32427345
2.
Mutational screening of inverted formin 2 in adult-onset focal segmental glomerulosclerosis or minimal change patients from the Czech Republic.
BMC Med Genet
; 19(1): 147, 2018 08 20.
Artigo
Inglês
| MEDLINE | ID: mdl-30126379
3.
Balanced chromosomal translocations in men: relationships among semen parameters, chromatin integrity, sperm meiotic segregation and aneuploidy.
J Assist Reprod Genet
; 30(3): 391-405, 2013 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-23318982
4.
Extensive, 3.8 Mb-Sized Deletion of 22q12 in a Patient with Bilateral Schwannoma, Intellectual Disability, Sensorineural Hearing Loss, and Epilepsy.
Mol Syndromol
; 14(5): 439-448, 2023 Oct.
Artigo
Inglês
| MEDLINE | ID: mdl-37908896
5.
der(4)t(Y;4): Three-generation transmission and sperm meiotic segregation analysis.
Am J Med Genet A
; 155A(5): 1157-61, 2011 May.
Artigo
Inglês
| MEDLINE | ID: mdl-21465656
6.
Case Report: Contiguous Xq22.3 Deletion Associated with ATS-ID Syndrome: From Genotype to Further Delineation of the Phenotype.
Front Genet
; 12: 750110, 2021.
Artigo
Inglês
| MEDLINE | ID: mdl-34777475
7.
Diagnosis of Bloom Syndrome in a Patient with Short Stature, Recurrence of Malignant Lymphoma, and Consanguineous Origin.
Mol Syndromol
; 11(2): 73-82, 2020 Jun.
Artigo
Inglês
| MEDLINE | ID: mdl-32655338
8.
DICER1 Syndrome.
Klin Onkol
; 32(Supplementum2): 123-127, 2019.
Artigo
Inglês
| MEDLINE | ID: mdl-31409088
9.
Sperm fluorescence in situ hybridization study of meiotic segregation and an interchromosomal effect in carriers of t(11;18).
Hum Reprod
; 23(3): 581-8, 2008 Mar.
Artigo
Inglês
| MEDLINE | ID: mdl-18182397
10.
Malignant intracranial germinoma in Smith-Lemli-Opitz syndrome: cholesterol homeostasis possibly connecting morphogenesis and cancer development.
J Pediatr Hematol Oncol
; 30(9): 689-91, 2008 Sep.
Artigo
Inglês
| MEDLINE | ID: mdl-18776762
11.
TSPY gene copy number as a potential new risk factor for male infertility.
Reprod Biomed Online
; 14(5): 579-87, 2007 May.
Artigo
Inglês
| MEDLINE | ID: mdl-17509197