Search details
1.
The phenotypic and genetic spectrum of patients with heterozygous mutations in cyclin M2 (CNNM2).
Hum Mutat
; 42(4): 473-486, 2021 04.
Article
in English
| MEDLINE | ID: mdl-33600043
2.
Non-syndromic X linked intellectual disability: Current knowledge in light of the recent advances in molecular and functional studies.
Clin Genet
; 97(5): 677-687, 2020 05.
Article
in English
| MEDLINE | ID: mdl-31898314
3.
Analysis of Lynch Syndrome Mismatch Repair Genes in Women with Endometrial Cancer.
Oncology
; 91(3): 171-6, 2016.
Article
in English
| MEDLINE | ID: mdl-27398995
4.
Targeted Next-Generation Sequencing Analysis of 1,000 Individuals with Intellectual Disability.
Hum Mutat
; 36(12): 1197-204, 2015 Dec.
Article
in English
| MEDLINE | ID: mdl-26350204
5.
Infectious and immunologic phenotype of MECP2 duplication syndrome.
J Clin Immunol
; 35(2): 168-81, 2015 Feb.
Article
in English
| MEDLINE | ID: mdl-25721700
6.
L-acetylcarnitine for treating fragile X syndrome.
Cochrane Database Syst Rev
; (5): CD010012, 2015 May 19.
Article
in English
| MEDLINE | ID: mdl-25985235
7.
A novel nonsense homozygous variant in the NLGN1 gene found in a pair of monozygotic twin brothers with intellectual disability and autism.
Clin Genet
; 95(2): 339-340, 2019 02.
Article
in English
| MEDLINE | ID: mdl-30460678
8.
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.
Article
in English
| MEDLINE | ID: mdl-23894094
9.
Ovarian cancer susceptibility alleles and risk of ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Hum Mutat
; 33(4): 690-702, 2012 Apr.
Article
in English
| MEDLINE | ID: mdl-22253144
10.
Genome-wide linkage scan reveals three putative breast-cancer-susceptibility loci.
Am J Hum Genet
; 84(2): 115-22, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-19147119
11.
Detection of a large rearrangement in PALB2 in Spanish breast cancer families with male breast cancer.
Breast Cancer Res Treat
; 132(1): 307-15, 2012 Feb.
Article
in English
| MEDLINE | ID: mdl-22052327
12.
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.
Article
in English
| MEDLINE | ID: mdl-22867051
13.
RNA Analysis and Clinical Characterization of a Novel Splice Variant in the NSD1 Gene Causing Familial Sotos Syndrome.
Front Pediatr
; 10: 827802, 2022.
Article
in English
| MEDLINE | ID: mdl-35186810
14.
Folic acid for fragile X syndrome.
Cochrane Database Syst Rev
; (5): CD008476, 2011 May 11.
Article
in English
| MEDLINE | ID: mdl-21563169
15.
Parity and the risk of breast and ovarian cancer in BRCA1 and BRCA2 mutation carriers.
Breast Cancer Res Treat
; 119(1): 221-32, 2010 Jan.
Article
in English
| MEDLINE | ID: mdl-19370414
16.
Effect of AGG Interruptions on FMR1 Maternal Transmissions.
Front Mol Biosci
; 7: 135, 2020.
Article
in English
| MEDLINE | ID: mdl-32766278
17.
Role of mitochondrial DNA variants in the development of fragile X-associated tremor/ataxia syndrome.
Mitochondrion
; 52: 157-162, 2020 05.
Article
in English
| MEDLINE | ID: mdl-32173566
18.
Targeted Next-Generation Sequencing in Patients with Suggestive X-Linked Intellectual Disability.
Genes (Basel)
; 11(1)2020 01 02.
Article
in English
| MEDLINE | ID: mdl-31906484
19.
Hereditary Spastic Paraplegia and Intellectual Disability: Clinicogenetic Lessons From a Family Suggesting a Dual Genetics Diagnosis.
Front Neurol
; 11: 41, 2020.
Article
in English
| MEDLINE | ID: mdl-32117010
20.
Analysis of FANCB and FANCN/PALB2 fanconi anemia genes in BRCA1/2-negative Spanish breast cancer families.
Breast Cancer Res Treat
; 113(3): 545-51, 2009 Feb.
Article
in English
| MEDLINE | ID: mdl-18302019