PROBLEMÁTICA SOCIO-FAMILIAR DE LOS NIÑOS INFECTADOS POR EL VIH.
Anales Españoles de Pediatría. 1995; 42(1):43-48.
[Catch-22: current implication of the microdeletion in 22q11].
An Esp Pediatr.
1996 Oct;45(4):341-5. Review. PubMed PMID:
9005718.
[Kabuki's syndrome. A recognizable picture from early infancy].
An Esp Pediatr.
1997 Oct;47(4):429-31. PubMed PMID:
9499317.
Developmental delay in fetal aminopterin/methotrexate syndrome.
Teratology.
1999 Jul;60(1):10-2. doi: 10.1002/(SICI)1096-9926(199907)60:1<10::AID-TERA5>3.0.CO;2-H. Review. PubMed PMID:
10413333.
Monodactylous limbs and abnormal genitalia are associated with hemizygosity for the human 2q31 region that includes the HOXD cluster.
Am J Hum Genet.
1999 Jul;65(1):104-10. doi: 10.1086/302467. PubMed PMID:
10364522; PubMed Central PMCID:
PMC1378080.
Albinism and agenesis of the corpus callosum with profound developmental delay: Vici syndrome, evidence for autosomal recessive inheritance.
Am J Med Genet.
1999 Aug 27;85(5):479-85. doi: 10.1002/(sici)1096-8628(19990827)85:5<479::aid-ajmg9>3.3.co;2-4. Review. PubMed PMID:
10405446.
The mutational spectrum of the sonic hedgehog gene in holoprosencephaly: SHH mutations cause a significant proportion of autosomal dominant holoprosencephaly.
Hum Mol Genet.
1999 Dec;8(13):2479-88. doi: 10.1093/hmg/8.13.2479. PubMed PMID:
10556296.
Developmental patterning genes and their conserved functions: from model organisms to humans.
Mol Genet Metab.
2000 Feb;69(2):85-100. doi: 10.1006/mgme.2000.2963. Review. PubMed PMID:
10720435.
[Non-Mendelian genetics and growth. The Russel-Silver syndrome].
An Esp Pediatr.
2001 Jun;54(6):531-5. PubMed PMID:
11412398.
Portal hypertension in Williams syndrome: report of two patients.
Am J Med Genet A.
2003 May 1;118A(4):372-6. doi: 10.1002/ajmg.a.10205. PubMed PMID:
12687671.
[Large-scale genotyping in research into autism spectrum disorders and attention deficit hyperactivity disorder].
Rev Neurol.
2005 Jan 15;40 Suppl 1:S187-90. PubMed PMID:
15736086.
Severe expressive-language delay related to duplication of the Williams-Beuren locus.
N Engl J Med.
2005 Oct 20;353(16):1694-701. doi: 10.1056/NEJMoa051962. PubMed PMID:
16236740; PubMed Central PMCID:
PMC2893213.
[Williams syndrome: its clinical aspects and molecular bases].
Rev Neurol.
2006 Jan 7;42 Suppl 1:S69-75. Review. PubMed PMID:
16506136.
[Clinical guide to the management of patients with Beckwith-Wiedemann syndrome].
An Pediatr (Barc).
2006 Mar;64(3):252-9. doi: 10.1157/13085513. PubMed PMID:
16527093.
Hemizygosity at the NCF1 gene in patients with Williams-Beuren syndrome decreases their risk of hypertension.
Am J Hum Genet.
2006 Apr;78(4):533-42. doi: 10.1086/501073. Epub 2006 Jan 31. PubMed PMID:
16532385; PubMed Central PMCID:
PMC1424678.
Epidemiology of FASD in a province in Italy: Prevalence and characteristics of children in a random sample of schools.
Alcohol Clin Exp Res.
2006 Sep;30(9):1562-75. doi: 10.1111/j.1530-0277.2006.00188.x. PubMed PMID:
16930219.
Clinical delineation of fetal alcohol spectrum disorders (FASD) in Italian children: comparison and contrast with other racial/ethnic groups and implications for diagnosis and prevention.
Neurosci Biobehav Rev.
2007;31(2):270-7. doi: 10.1016/j.neubiorev.2006.06.024. Epub 2007 Jan 9. PubMed PMID:
17215042.
Small supernumerary marker chromosome causing partial trisomy 6p in a child with craniosynostosis.
Am J Med Genet A.
2007 May 15;143A(10):1108-13. doi: 10.1002/ajmg.a.31709. PubMed PMID:
17431916.
Array-CGH in patients with Kabuki-like phenotype: identification of two patients with complex rearrangements including 2q37 deletions and no other recurrent aberration.
BMC Med Genet.
2008 Apr 11;9:27. doi: 10.1186/1471-2350-9-27. PubMed PMID:
18405349; PubMed Central PMCID:
PMC2358878.
Autism-specific copy number variants further implicate the phosphatidylinositol signaling pathway and the glutamatergic synapse in the etiology of the disorder.
Hum Mol Genet.
2009 May 15;18(10):1795-804. doi: 10.1093/hmg/ddp092. Epub 2009 Feb 26. PubMed PMID:
19246517; PubMed Central PMCID:
PMC2671988.
Developmental pathogenesis of short palpebral fissure length in children with fetal alcohol syndrome.
Birth Defects Res A Clin Mol Teratol.
2009 Aug;85(8):695-9. doi: 10.1002/bdra.20585. PubMed PMID:
19350654; PubMed Central PMCID:
PMC3137883.
Novel (60%) and recurrent (40%) androgen receptor gene mutations in a series of 59 patients with a 46,XY disorder of sex development.
J Clin Endocrinol Metab.
2010 Apr;95(4):1876-88. doi: 10.1210/jc.2009-2146. Epub 2010 Feb 11. PubMed PMID:
20150575.
Partial 7q11.23 deletions further implicate GTF2I and GTF2IRD1 as the main genes responsible for the Williams-Beuren syndrome neurocognitive profile.
J Med Genet.
2010 May;47(5):312-20. doi: 10.1136/jmg.2009.071712. Epub 2009 Nov 5. PubMed PMID:
19897463.
CDKN1C (p57(Kip2)) analysis in Beckwith-Wiedemann syndrome (BWS) patients: Genotype-phenotype correlations, novel mutations, and polymorphisms.
Am J Med Genet A.
2010 Jun;152A(6):1390-7. doi: 10.1002/ajmg.a.33453. Review. PubMed PMID:
20503313.
Fetal alcohol spectrum disorders: Extending the range of structural defects.
Am J Med Genet A.
2010 Nov;152A(11):2731-5. doi: 10.1002/ajmg.a.33675. PubMed PMID:
20949507; PubMed Central PMCID:
PMC3143840.
Association study of six candidate genes asymmetrically expressed in the two cerebral hemispheres suggests the involvement of BAIAP2 in autism.
J Psychiatr Res.
2011 Feb;45(2):280-2. doi: 10.1016/j.jpsychires.2010.09.001. PubMed PMID:
20888579.
High resolution melting analysis for the identification of novel mutations in DKC1 and TERT genes in patients with dyskeratosis congenita.
Blood Cells Mol Dis.
2012 Oct 15-Dec 15;49(3-4):140-6. doi: 10.1016/j.bcmd.2012.05.008. Epub 2012 Jun 2. PubMed PMID:
22664374.
Mutations of the gene encoding otogelin are a cause of autosomal-recessive nonsyndromic moderate hearing impairment.
Am J Hum Genet.
2012 Nov 2;91(5):883-9. doi: 10.1016/j.ajhg.2012.09.012. PubMed PMID:
23122587; PubMed Central PMCID:
PMC3487128.
Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.
Nat Genet.
2013 Jan;45(1):83-7. doi: 10.1038/ng.2497. Epub 2012 Dec 9. PubMed PMID:
23222957; PubMed Central PMCID:
PMC4012842.
Analysis of two language-related genes in autism: a case-control association study of FOXP2 and CNTNAP2.
Psychiatr Genet.
2013 Apr;23(2):82-5. doi: 10.1097/YPG.0b013e32835d6fc6. PubMed PMID:
23277129.
Thoracic aortic-aneurysm and dissection in association with significant mitral valve disease caused by mutations in TGFB2.
Int J Cardiol.
2013 May 25;165(3):584-7. doi: 10.1016/j.ijcard.2012.09.029. Epub 2012 Oct 25. PubMed PMID:
23102774.
Trisomy 18p caused by a supernumerary marker with a chromosome 13/21 centromere: a possible recurrent chromosome aberration.
Am J Med Genet A.
2013 Sep;161A(9):2363-8. doi: 10.1002/ajmg.a.36102. Epub 2013 Jul 25. PubMed PMID:
23894094.
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study.
Clin Genet.
2013 Dec;84(6):539-45. doi: 10.1111/cge.12081. Epub 2013 Apr 26. PubMed PMID:
23320472.
Dysmorphology at a distance: results of a web-based diagnostic service.
Eur J Hum Genet.
2014 Mar;22(3):327-32. doi: 10.1038/ejhg.2013.137. Epub 2013 Jul 10. PubMed PMID:
23838594; PubMed Central PMCID:
PMC3925265.
Similar phenotypes caused by mutations in OTOG and OTOGL.
Ear Hear.
2014 May-Jun;35(3):e84-91. doi: 10.1097/AUD.0000000000000008. PubMed PMID:
24378291; PubMed Central PMCID:
PMC3999258.
Loss-of-function HDAC8 mutations cause a phenotypic spectrum of Cornelia de Lange syndrome-like features, ocular hypertelorism, large fontanelle and X-linked inheritance.
Hum Mol Genet.
2014 Jun 1;23(11):2888-900. doi: 10.1093/hmg/ddu002. Epub 2014 Jan 8. PubMed PMID:
24403048; PubMed Central PMCID:
PMC4014191.
Human NR5A1/SF-1 mutations show decreased activity on BDNF (brain-derived neurotrophic factor), an important regulator of energy balance: testing impact of novel SF-1 mutations beyond steroidogenesis.
PLoS One.
2014;9(8):e104838. doi: 10.1371/journal.pone.0104838. eCollection 2014. PubMed PMID:
25122490; PubMed Central PMCID:
PMC4133263.
Nonsyndromic familial aortic disease: an underdiagnosed entity.
Rev Esp Cardiol (Engl Ed).
2014 Oct;67(10):861-3. doi: 10.1016/j.rec.2014.06.003. Epub 2014 Sep 8. PubMed PMID:
25200617.
Whole exome sequencing for the identification of a new mutation in TGFB2 involved in a familial case of non-syndromic aortic disease.
Clin Chim Acta.
2014 Nov 1;437:88-92. doi: 10.1016/j.cca.2014.07.016. Epub 2014 Jul 19. PubMed PMID:
25046559.
A new overgrowth syndrome is due to mutations in RNF125.
Hum Mutat.
2014 Dec;35(12):1436-41. doi: 10.1002/humu.22689. PubMed PMID:
25196541.
Intrachromosomal 3p insertion as a cause of reciprocal pure interstitial deletion and duplication in two siblings: further delineation of the emerging proximal 3p deletion syndrome.
Cytogenet Genome Res.
2014;144(4):290-3. doi: 10.1159/000375184. Epub 2015 Feb 14. PubMed PMID:
25720458.
Recommendations for the clinical application of aneuploidy detection in cell-free fetal DNA in maternal blood.
Prog Obstet Ginecol. 2015 April; 58(4):199-201. doi: 10.1016/j.pog.2014.12.003.
Metabolic abnormalities in Williams-Beuren syndrome.
J Med Genet.
2015 Apr;52(4):248-55. doi: 10.1136/jmedgenet-2014-102713. Epub 2015 Feb 6. PubMed PMID:
25663682.
Integrated analysis of whole-exome sequencing and transcriptome profiling in males with autism spectrum disorders.
Mol Autism.
2015;6:21. doi: 10.1186/s13229-015-0017-0. eCollection 2015. PubMed PMID:
25969726; PubMed Central PMCID:
PMC4427998.
Genetic heterogeneity and clinical variability in musculocontractural Ehlers-Danlos syndrome caused by impaired dermatan sulfate biosynthesis.
Hum Mutat.
2015 May;36(5):535-47. doi: 10.1002/humu.22774. Epub 2015 Apr 6. Review. PubMed PMID:
25703627.
Is religiosity related to attitudes toward clinical trials participation?.
J Cancer Educ.
2015 Jun;30(2):220-4. doi: 10.1007/s13187-014-0696-9. PubMed PMID:
24953236; PubMed Central PMCID:
PMC4276542.
Whole exome sequencing identifies de novo heterozygous CAV1 mutations associated with a novel neonatal onset lipodystrophy syndrome.
Am J Med Genet A.
2015 Aug;167A(8):1796-806. doi: 10.1002/ajmg.a.37115. Epub 2015 Apr 21. PubMed PMID:
25898808; PubMed Central PMCID:
PMC5086082.
Array CGH Analysis of Paired Blood and Tumor Samples from Patients with Sporadic Wilms Tumor.
PLoS One.
2015;10(8):e0136812. doi: 10.1371/journal.pone.0136812. eCollection 2015. PubMed PMID:
26317783; PubMed Central PMCID:
PMC4552764.
A Novel Recurrent Breakpoint Responsible for Rearrangements in the Williams-Beuren Region.
Cytogenet Genome Res.
2015;146(3):181-6. doi: 10.1159/000439463. Epub 2015 Sep 18. PubMed PMID:
26382598.
Recommendations for the clinical use of genomic microarray in prenatal diagnosis.
Progresos de Obstetricia y Ginecología. 2015 December; 58(10):470-473. doi: doi:10.1016/j.pog.2015.05.003.
What would you like to do?