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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

Human genetics, 2021-12, Vol.140 (12), p.1665-1678

2021

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Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

Clinical and experimental dermatology, 2021-08, Vol.46 (6), p.1097-1101

2021

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A small and active ring x chromosome in a female with features of Kabuki syndrome

American journal of medical genetics. Part A, 2008-11, Vol.146A (21), p.2816-2821

2008

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Five years’ experience of the clinical exome sequencing in a Spanish single center

Scientific reports, 2022-11, Vol.12 (1), p.19209-19209, Article 19209

2022

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Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene

Journal of assisted reproduction and genetics, 2009-08, Vol.26 (8), p.455-460

2009

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Prenatal diagnosis of 46, XX male fetus

Journal of assisted reproduction and genetics, 2006-05, Vol.23 (5), p.253-254

2006

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Gene symbol: EPM2A

Human genetics, 2007-04, Vol.121 (2), p.289-289

2007

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Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters

Prenatal diagnosis, 2001-03, Vol.21 (3), p.165-170

2001

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Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome

Annals of human genetics, 1998-05, Vol.62 (3), p.235-239

1998

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Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

Prenatal diagnosis, 2002-10, Vol.22 (10), p.946-948

2002

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Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

Molecular vision, 2007-01, Vol.13, p.96-101

2007

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Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Prenatal diagnosis, 1999-09, Vol.19 (9), p.884-886

1999

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Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR

Prenatal diagnosis, 2003-03, Vol.23 (3), p.232-234

2003

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Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

Prenatal diagnosis, 2000-01, Vol.20 (1), p.63-65

2000

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Molecular studies of chromosomal mosaicism : relative frequency of chromosome gain or loss and possible role of cell selection

American journal of human genetics, 1995-02, Vol.56 (2), p.444-451

1995

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Does Bardet-Biedl syndrome have a characteristic face?

Journal of medical genetics, 2001-05, Vol.38 (5), p.e14-14

2001

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Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?

European journal of human genetics : EJHG, 1993, Vol.1 (4), p.280-286

1993

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What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

BMC medical genetics, 2018-03, Vol.19 (1), p.32-32, Article 32

2018

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Gene symbol: CFTR. Disease: Cystic fibrosis

Human genetics, 2004-03, Vol.114 (4), p.403-403

2004

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Guía para el estudio genético de la aniridia

Archivos de la Sociedad Española de Oftalmología, 2013-04, Vol.88 (4), p.145-152

2013

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Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family

Journal of neurogenetics, 2008-01, Vol.22 (1), p.93-101

2008

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New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

American journal of medical genetics. Part A, 2005-11, Vol.138A (4), p.365-368

2005

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Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation

Ophthalmic genetics, 2000-09, Vol.21 (3), p.185-189

2000

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56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH

Reproductive biomedicine online, 2019-08, Vol.39, p.e60-e61

2019

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Recomendaciones de buenas prácticas para el diagnóstico genético de abortos espontáneos e interrupciones voluntarias del embarazo por presentar defectos congénitos

Clínica e investigación en ginecología y obstetricia, 2016-07, Vol.43 (3), p.104-109

2016

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NGS and phenotypic ontology-based approaches increase the diagnostic yield in syndromic retinal diseases

Azathioprine hypersensitivity syndrome: report of two cases with cutaneous manifestations

A small and active ring x chromosome in a female with features of Kabuki syndrome

Five years’ experience of the clinical exome sequencing in a Spanish single center

Prenatal diagnosis of skeletal dysplasia due to FGFR3 gene mutations: a 9-year experience: Prenatal diagnosis in FGFR3 gene

Prenatal diagnosis of 46, XX male fetus

Gene symbol: EPM2A

Prenatal diagnosis on fetal cells from maternal blood: practical comparative evaluation of the first and second trimesters

Increased parental age and number of pregnancies in Klippel–Trenaunay–Weber syndrome

Prenatal detection of a cystic fibrosis mutation in fetal DNA from maternal plasma

Partial paternal uniparental disomy (UPD) of chromosome 1 in a patient with Stargardt disease

Segregation of digital number with partial monosomy or trisomy of 13q in familial 5;13 translocation

Huntington disease-unaffected fetus diagnosed from maternal plasma using QF-PCR

Rapid identification of a small dicentric supernumerary marker derived from chromosome 16 with a modified FISH technique on amniotic fluid

Molecular studies of chromosomal mosaicism : relative frequency of chromosome gain or loss and possible role of cell selection

Does Bardet-Biedl syndrome have a characteristic face?

Increased Parental Ages and Uniparental Disomy 15: A Paternal Age Effect?

What to consider when pseudohypoparathyroidism is ruled out: iPPSD and differential diagnosis

Gene symbol: CFTR. Disease: Cystic fibrosis

Guía para el estudio genético de la aniridia

Two Non-Contiguous Duplications in the DMD Gene in a Spanish Family

New approach for the refinement of the location of the X‐chromosome breakpoint in a previously described female patient with choroideremia carrying a X;4 translocation

Choroideremia, sensorineural deafness, and primary ovarian failure in a woman with a balanced X-4 translocation

56. A NEW AGE IN PGT-M: A DECADE´S EXPERIENCE AND NEW CHALLENGES TO DEAL WITH

Recomendaciones de buenas prácticas para el diagnóstico genético de abortos espontáneos e interrupciones voluntarias del embarazo por presentar defectos congénitos

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