Publications by authors named "Sandra Monfort"

28Publications

Chimeric Genes in Deletions and Duplications Associated with Intellectual Disability.

Int J Genomics 2017 24;2017:4798474. Epub 2017 May 24.

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Avenida de Fernando Abril Martorell 106, 46026 Valencia, Spain.

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http://dx.doi.org/10.1155/2017/4798474DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC5463148PMC
May 2017

High diagnostic yield of syndromic intellectual disability by targeted next-generation sequencing.

J Med Genet 2017 02 12;54(2):87-92. Epub 2016 Sep 12.

Unidad de Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1136/jmedgenet-2016-103964DOI Listing
February 2017

De novo mutations in genes of mediator complex causing syndromic intellectual disability: mediatorpathy or transcriptomopathy?

Pediatr Res 2016 12 8;80(6):809-815. Epub 2016 Aug 8.

Genetics Unit, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1038/pr.2016.162DOI Listing
December 2016

Haploinsufficiency of the MYT1L gene causes intellectual disability frequently associated with behavioral disorder.

Genet Med 2015 Aug;17(8):683-4

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1038/gim.2015.86DOI Listing
August 2015

In Pursuit of New Imprinting Syndromes by Epimutation Screening in Idiopathic Neurodevelopmental Disorder Patients.

Biomed Res Int 2015 27;2015:341986. Epub 2015 May 27.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Avenida de Campanar 21, 46009 Valencia, Spain.

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http://dx.doi.org/10.1155/2015/341986DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC4461700PMC
March 2016

A novel missense mutation in the NSDHL gene identified in a Lithuanian family by targeted next-generation sequencing causes CK syndrome.

Am J Med Genet A 2015 Jun 21;167(6):1342-8. Epub 2015 Apr 21.

Unidad de Genética, Grupo de Investigación Traslacional en Genética, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36999DOI Listing
June 2015

Pure duplication of 19p13.3 in three members of a family with intellectual disability and literature review. Definition of a new microduplication syndrome.

Am J Med Genet A 2015 Jul 9;167(7):1614-20. Epub 2015 Apr 9.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.37046DOI Listing
July 2015

Phenotype profiling of patients with intellectual disability and copy number variations.

Eur J Paediatr Neurol 2014 Sep 18;18(5):558-66. Epub 2014 Apr 18.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitari i Politècnic "La Fe", Avenida Campanar 21, 46009 Valencia, Spain.

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http://dx.doi.org/10.1016/j.ejpn.2014.04.010DOI Listing
September 2014

Duplication at Xq13.3-q21.1 with syndromic intellectual disability, a probable role for the ATRX gene.

Am J Med Genet A 2014 Apr 23;164A(4):918-23. Epub 2014 Jan 23.

Unidad de Genética y Diagnostico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.36371DOI Listing
April 2014

[Chromosomal location of submicroscopic duplications in patients with neurodevelopmental disorders to identify cases with high risk of familial recurrence].

Med Clin (Barc) 2014 Jun 20;142(12):531-7. Epub 2013 Jun 20.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario y Politécnico La Fe, Valencia, España. Electronic address:

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http://dx.doi.org/10.1016/j.medcli.2013.04.034DOI Listing
June 2014

Enrichment of ultraconserved elements among genomic imbalances causing mental delay and congenital anomalies.

BMC Med Genomics 2010 Nov 23;3:54. Epub 2010 Nov 23.

Unidad de Genética y Diagnostico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1186/1755-8794-3-54DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3002293PMC
November 2010

Tyrosinemia type 1 and Angelman syndrome due to paternal uniparental isodisomy 15.

J Inherit Metab Dis 2009 Dec 23;32 Suppl 1:S349-53. Epub 2009 Dec 23.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avda. Campanar, 21, 46009, Valencia, Spain.

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http://dx.doi.org/10.1007/s10545-009-9014-9DOI Listing
December 2009

[Subtelomeric deletion 9qter: definition of the syndrome and parental origin in 2 patients].

Med Clin (Barc) 2007 Mar;128(11):419-21

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avda. Campanar 21, 46009 Valencia, Spain.

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http://dx.doi.org/10.1157/13100343DOI Listing
March 2007

Duplication of 14q11.2 associates with short stature and mild mental retardation: a putative relation with quantitative trait loci.

Am J Med Genet A 2007 Feb;143(4):382-4

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1002/ajmg.a.31608DOI Listing
February 2007

Robust, easy, and dose-sensitive methylation test for the diagnosis of Prader-Willi and Angelman syndromes.

Genet Test 2006 ;10(3):174-7

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1089/gte.2006.10.174DOI Listing
June 2007

Evaluation of MLPA for the detection of cryptic subtelomeric rearrangements.

J Lab Clin Med 2006 Jun;147(6):295-300

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Valencia, Spain.

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http://dx.doi.org/10.1016/j.lab.2006.01.006DOI Listing
June 2006

A subtelomeric translocation apparently implied in multiple abortions.

J Assist Reprod Genet 2006 Feb 5;23(2):97-101. Epub 2006 Apr 5.

Unidad de Genética y Diagnóstico Prenatal, Hospital Universitario La Fe, Avd. Campanar 21, Valencia, 46009, Spain.

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http://link.springer.com/10.1007/s10815-006-9033-5
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http://dx.doi.org/10.1007/s10815-006-9033-5DOI Listing
http://www.ncbi.nlm.nih.gov/pmc/articles/PMC3454899PMC
February 2006