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1.
Genetic landscape of congenital insensitivity to pain and hereditary sensory and autonomic neuropathies.
Brain
; 146(12): 4880-4890, 2023 12 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-37769650
2.
More than meets the eye: Expanding and reviewing the clinical and mutational spectrum of brittle cornea syndrome.
Hum Mutat
; 42(6): 711-730, 2021 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-33739556
3.
Follow-up in the field of reproductive medicine: an ethical exploration.
Reprod Biomed Online
; 41(6): 1144-1150, 2020 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-32967810
4.
Identification of candidate cancer predisposing variants by performing whole-exome sequencing on index patients from BRCA1 and BRCA2-negative breast cancer families.
BMC Cancer
; 19(1): 313, 2019 Apr 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-30947698
5.
Endocrine and reproductive profile of boys and young adults conceived after ICSI.
Curr Opin Obstet Gynecol
; 31(3): 163-169, 2019 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-30870183
6.
Preimplantation genetic testing for aneuploidy by microarray analysis of polar bodies in advanced maternal age: a randomized clinical trial.
Hum Reprod
; 33(9): 1767-1776, 2018 09 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30085138
7.
DIDA: A curated and annotated digenic diseases database.
Nucleic Acids Res
; 44(D1): D900-7, 2016 Jan 04.
Artículo
en Inglés
| MEDLINE | ID: mdl-26481352
8.
Reproductive hormones of ICSI-conceived young adult men: the first results.
Hum Reprod
; 32(2): 439-446, 2017 02.
Artículo
en Inglés
| MEDLINE | ID: mdl-28007789
9.
Prolonged Right Ventricular Ejection Delay in Brugada Syndrome Depends on the Type of SCN5A Variantã- Electromechanical Coupling Through Tissue Velocity Imaging as a Bridge Between Genotyping and Phenotyping.
Circ J
; 82(1): 53-61, 2017 12 25.
Artículo
en Inglés
| MEDLINE | ID: mdl-28781330
10.
Chromosome fragility at FRAXA in human cleavage stage embryos at risk for fragile X syndrome.
Am J Med Genet A
; 167A(10): 2306-13, 2015 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-25953684
11.
Contribution of Cardiac Sodium Channel ß-Subunit Variants to Brugada Syndrome.
Circ J
; 79(10): 2118-29, 2015.
Artículo
en Inglés
| MEDLINE | ID: mdl-26179811
12.
Hereditary breast and ovarian cancer and reproduction: an observational study on the suitability of preimplantation genetic diagnosis for both asymptomatic carriers and breast cancer survivors.
Breast Cancer Res Treat
; 145(3): 673-81, 2014 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-24748567
13.
Children born after assisted reproduction more commonly carry a mitochondrial genotype associating with low birthweight.
Nat Commun
; 15(1): 1232, 2024 Feb 09.
Artículo
en Inglés
| MEDLINE | ID: mdl-38336715
14.
Impact of embryo vitrification on children's health, including growth up to two years of age, in comparison with results following a fresh embryo transfer.
Fertil Steril
; 119(6): 932-941, 2023 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-36774979
15.
Prospective follow-up of 838 fetuses conceived after ovarian stimulation with corifollitropin alfa: comparative and overall neonatal outcome.
Hum Reprod
; 27(7): 2177-85, 2012 Jul.
Artículo
en Inglés
| MEDLINE | ID: mdl-22587997
16.
Are ICSI adolescents at risk for increased adiposity?
Hum Reprod
; 27(1): 257-64, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22081314
17.
Neonatal follow-up of 995 consecutively born children after embryo biopsy for PGD.
Hum Reprod
; 27(1): 288-93, 2012 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-22048989
18.
Compound heterozygous null mutations of NOBOX in sisters with delayed puberty and primary amenorrhea.
Mol Genet Genomic Med
; 9(10): e1776, 2021 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-34480423
19.
Erratum to: Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation.
Hum Reprod Open
; 2021(2): hoab013, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33869795
20.
Health of 2-year-old children born after vitrified oocyte donation in comparison with peers born after fresh oocyte donation.
Hum Reprod Open
; 2021(1): hoab002, 2021.
Artículo
en Inglés
| MEDLINE | ID: mdl-33634217