Detalles de la búsqueda
1.
Haplotype analysis of the internationally distributed BRCA1 c.3331_3334delCAAG founder mutation reveals a common ancestral origin in Iberia.
Breast Cancer Res
; 22(1): 108, 2020 10 21.
Artículo
en Inglés
| MEDLINE | ID: mdl-33087180
2.
DNA glycosylases involved in base excision repair may be associated with cancer risk in BRCA1 and BRCA2 mutation carriers.
PLoS Genet
; 10(4): e1004256, 2014 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-24698998
3.
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.
Oncology
; 91(3): 171-6, 2016.
Artículo
en Inglés
| MEDLINE | ID: mdl-27398995
4.
The highly prevalent BRCA2 mutation c.2808_2811del (3036delACAA) is located in a mutational hotspot and has multiple origins.
Carcinogenesis
; 34(11): 2505-11, 2013 Nov.
Artículo
en Inglés
| MEDLINE | ID: mdl-23929434
5.
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Am J Med Genet A
; 161A(9): 2363-8, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23894094
6.
CDKL5 gene status in female patients with epilepsy and Rett-like features: two new mutations in the catalytic domain.
BMC Med Genet
; 13: 68, 2012 Aug 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-22867051
7.
Risk of cognitive impairment in female premutation carriers of fragile X premutation: analysis by means of robust segmented linear regression models.
Am J Med Genet B Neuropsychiatr Genet
; 150B(2): 262-70, 2009 Mar 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-18563710
8.
Molecular and Clinical Characterization of a Novel Nonsense Variant in Exon 1 of the UPF3B Gene Found in a Large Spanish Basque Family (MRX82).
Front Genet
; 10: 1074, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-31737052
9.
High proportion of large genomic rearrangements in hMSH2 in hereditary nonpolyposis colorectal cancer (HNPCC) families of the Basque Country.
Cancer Lett
; 255(2): 295-9, 2007 Oct 08.
Artículo
en Inglés
| MEDLINE | ID: mdl-17582678
10.
Candidate genetic modifiers for breast and ovarian cancer risk in BRCA1 and BRCA2 mutation carriers.
Cancer Epidemiol Biomarkers Prev
; 24(1): 308-16, 2015 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-25336561
11.
Population genetic data of eight tetrameric short tandem repeats (STRs) in Casablanca resident population to use in forensic casework.
Forensic Sci Int
; 132(1): 82-3, 2003 Mar 12.
Artículo
en Inglés
| MEDLINE | ID: mdl-12689756
12.
MECP2 gene study in a large cohort: testing of 240 female patients and 861 healthy controls (519 females and 342 males).
J Mol Diagn
; 15(5): 723-9, 2013 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-23810759
13.
Analysis of PALB2 gene in BRCA1/BRCA2 negative Spanish hereditary breast/ovarian cancer families with pancreatic cancer cases.
PLoS One
; 8(7): e67538, 2013.
Artículo
en Inglés
| MEDLINE | ID: mdl-23935836
14.
A child with mild X-linked intellectual disability and a microduplication at Xp22.12 including RPS6KA3.
Pediatrics
; 128(4): e1029-33, 2011 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-21930553
15.
Breast and ovarian cancer risk evaluation in families with a disease-causing mutation in BRCA1/2.
J Community Genet
; 1(2): 91-9, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-22460208
16.
MLH1 founder mutations with moderate penetrance in Spanish Lynch syndrome families.
Cancer Res
; 70(19): 7379-91, 2010 Oct 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-20858721
17.
A study on MSH2 and MLH1 mutations in hereditary nonpolyposis colorectal cancer families from the Basque Country, describing four new germline mutations.
Fam Cancer
; 8(4): 533-9, 2009.
Artículo
en Inglés
| MEDLINE | ID: mdl-19760518
18.
Two cases of deletion 2q37 associated with segregation of an unbalanced translocation 2;21: choanal atresia leading to misdiagnosis of CHARGE syndrome.
Eur J Endocrinol
; 160(4): 711-7, 2009 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-19332529
19.
Analysis of the molecular parameters that could predict the risk of manifesting premature ovarian failure in female premutation carriers of fragile X syndrome.
Menopause
; 15(5): 945-9, 2008.
Artículo
en Inglés
| MEDLINE | ID: mdl-18427356
20.
Analysis of FMR1 gene expression in female premutation carriers using robust segmented linear regression models.
RNA
; 13(5): 756-62, 2007 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-17449730