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1.
Inconclusive chromosomal assessment after blastocyst biopsy: prevalence, causative factors and outcomes after re-biopsy and re-vitrification. A multicenter experience.
Hum Reprod
; 33(10): 1839-1846, 2018 10 01.
Artículo
en Inglés
| MEDLINE | ID: mdl-30239718
2.
Genome-wide parent-of-origin DNA methylation analysis reveals the intricacies of human imprinting and suggests a germline methylation-independent mechanism of establishment.
Genome Res
; 24(4): 554-69, 2014 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-24402520
3.
Clinical and molecular analyses of Beckwith-Wiedemann syndrome: Comparison between spontaneous conception and assisted reproduction techniques.
Am J Med Genet A
; 170(10): 2740-9, 2016 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-27480579
4.
Implementing PGD/PGD-A in IVF clinics: considerations for the best laboratory approach and management.
J Assist Reprod Genet
; 33(10): 1279-1286, 2016 Oct.
Artículo
en Inglés
| MEDLINE | ID: mdl-27423665
5.
A new overgrowth syndrome is due to mutations in RNF125.
Hum Mutat
; 35(12): 1436-41, 2014 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-25196541
6.
Genome-wide allelic methylation analysis reveals disease-specific susceptibility to multiple methylation defects in imprinting syndromes.
Hum Mutat
; 34(4): 595-602, 2013 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-23335487
7.
A novel dominant hyperekplexia mutation Y705C alters trafficking and biochemical properties of the presynaptic glycine transporter GlyT2.
J Biol Chem
; 287(34): 28986-9002, 2012 Aug 17.
Artículo
en Inglés
| MEDLINE | ID: mdl-22753417
8.
A novel mutation in CDKN1C in sibs with Beckwith-Wiedemann syndrome and cleft palate, sensorineural hearing loss, and supernumerary flexion creases.
Am J Med Genet A
; 161A(1): 192-7, 2013 Jan.
Artículo
en Inglés
| MEDLINE | ID: mdl-23197429
9.
Constitutional mosaic genome-wide uniparental disomy due to diploidisation: an unusual cancer-predisposing mechanism.
J Med Genet
; 48(3): 212-6, 2011 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-21097775
10.
Clinical Spectrum and Tumour Risk Analysis in Patients with Beckwith-Wiedemann Syndrome Due to CDKN1C Pathogenic Variants.
Cancers (Basel)
; 14(15)2022 Aug 05.
Artículo
en Inglés
| MEDLINE | ID: mdl-35954470
11.
Adults with Sotos syndrome: review of 21 adults with molecularly confirmed NSD1 alterations, including a detailed case report of the oldest person.
Am J Med Genet A
; 155A(9): 2105-11, 2011 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-21834047
12.
Macrocephaly-capillary malformation: Analysis of 13 patients and review of the diagnostic criteria.
Am J Med Genet A
; 152A(12): 3101-6, 2010 Dec.
Artículo
en Inglés
| MEDLINE | ID: mdl-21077203
13.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Am J Med Genet A
; 152A(6): 1390-7, 2010 Jun.
Artículo
en Inglés
| MEDLINE | ID: mdl-20503313
14.
Preimplantation genetic testing in assisted reproductive technology.
Panminerva Med
; 61(1): 30-41, 2019 Mar.
Artículo
en Inglés
| MEDLINE | ID: mdl-29962185
15.
Past, Present, and Future Strategies for Enhanced Assessment of Embryo's Genome and Reproductive Competence in Women of Advanced Reproductive Age.
Front Endocrinol (Lausanne)
; 10: 154, 2019.
Artículo
en Inglés
| MEDLINE | ID: mdl-30941103
16.
A preliminary study of soft cheese degradation in different packaging conditions by 1H-NMR.
Magn Reson Chem
; 46(9): 828-31, 2008 Sep.
Artículo
en Inglés
| MEDLINE | ID: mdl-18615865
17.
Diagnostic efficacy of blastocoel fluid and spent media as sources of DNA for preimplantation genetic testing in standard clinical conditions.
Fertil Steril
; 110(5): 870-879.e5, 2018 10.
Artículo
en Inglés
| MEDLINE | ID: mdl-30316433
18.
Variable maternal methylation overlapping the nc886/vtRNA2-1 locus is locked between hypermethylated repeats and is frequently altered in cancer.
Epigenetics
; 9(5): 783-90, 2014 May.
Artículo
en Inglés
| MEDLINE | ID: mdl-24589629
19.
Detection of hypomethylation syndrome among patients with epigenetic alterations at the GNAS locus.
J Clin Endocrinol Metab
; 97(6): E1060-7, 2012 06.
Artículo
en Inglés
| MEDLINE | ID: mdl-22492776
20.
Beckwith-Wiedemann syndrome and uniparental disomy 11p: fine mapping of the recombination breakpoints and evaluation of several techniques.
Eur J Hum Genet
; 19(4): 416-21, 2011 Apr.
Artículo
en Inglés
| MEDLINE | ID: mdl-21248736