Lista de obras -

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

artículo científico publicado en 2007

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides

artículo científico publicado en 2020

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

artículo científico publicado en 2017

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

artículo científico publicado en 2012

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

artículo científico publicado en 2009

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

artículo científico publicado en 2004

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease

artículo científico publicado en 2005

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

artículo científico publicado en 2004

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry

artículo científico publicado en 2002

Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry

artículo científico publicado en 2003

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

scientific article published on 28 November 2005

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

artículo científico publicado en 2013

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

artículo científico publicado en 2014

Human chromosome 7: DNA sequence and biology

artículo científico publicado en 2003

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

artículo científico publicado en 2011

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

artículo científico publicado en 2011

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

artículo científico publicado en 2006

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

artículo científico publicado en 2003

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

artículo científico publicado en 2003

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

artículo científico publicado en 2011

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

scientific article published on 22 May 2020

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

artículo científico publicado en 2013

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

artículo científico publicado en 2007

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

artículo científico publicado en 2021

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

artículo científico publicado en 2005

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection

scientific article published on 01 March 2002

Problems in detecting mosaic DNA methylation in Angelman syndrome

artículo científico publicado en 2003

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

artículo científico publicado en 2012

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

scientific article published on 31 January 2007

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

artículo científico publicado en 2004

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

artículo científico publicado en 2016

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

artículo científico publicado en 2002

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.

artículo científico publicado en 2005

Lista de obras de

A new 3p interstitial deletion including the entire MITF gene causes a variation of Tietz/Waardenburg type IIA syndromes

AG-exclusion zone revisited: Lessons to learn from 91 intronic NF1 3' splice site mutations outside the canonical AG-dinucleotides

Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification

CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome

Characterization of a de novo translocation t(5;18)(q33.1;q12.1) in an autistic boy identifies a breakpoint close to SH3TC2, ADRB2, and HTR4 on 5q, and within the desmocollin gene cluster on 18q.

Cloning, genomic structure, and expression profiles of TULIP1 (GARNL1), a brain-expressed candidate gene for 14q13-linked neurological phenotypes, and its murine homologue

Compound heterozygosity (G71R/R140H) in the lecithin:cholesterol acyltransferase (LCAT) gene results in an intermediate phenotype between LCAT-deficiency and fish-eye disease

De novo translocation t(5;18)(q33.1;q12.1) associated with autistic disorder

Detection and relocation of cord blood nucleated red blood cells by laser scanning cytometry

Fetal nucleated red blood cells in peripheral blood of pregnant women: detection and determination of location on a slide using laser-scanning cytometry

Genomic analysis of five chromosome 7p deletion patients with Greig cephalopolysyndactyly syndrome (GCPS)

Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome

High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors

Human chromosome 7: DNA sequence and biology

Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome

Molecular characterisation of a 15 Mb constitutional de novo interstitial deletion of chromosome 3p in a boy with developmental delay and congenital anomalies.

Molecular characterization of a 12q22-q24 deletion associated with congenital deafness: confirmation and refinement of the DFNA25 locus.

Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2.

Mutations in SREBF1, Encoding Sterol Regulatory Element Binding Transcription Factor 1, Cause Autosomal-Dominant IFAP Syndrome

Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears

Nijmegen breakage syndrome (NBS) due to maternal isodisomy of chromosome 8.

One test for all: whole exome sequencing significantly improves the diagnostic yield in growth retarded patients referred for molecular testing for Silver-Russell syndrome

Phenotypic and molecular characterisation of a de novo 5q deletion that includes the APC gene.

Pitfalls in prenatal and postnatal detection of partial trisomy and tetrasomy 13 by rapid aneuploidy detection

Problems in detecting mosaic DNA methylation in Angelman syndrome

Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy.

Recurrent rearrangements in the proximal 15q11–q14 region: a new breakpoint cluster specific to unbalanced translocations

SNURF-SNRPN and UBE3A transcript levels in patients with Angelman syndrome

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies.

The human gamma-aminobutyric acid A receptor delta (GABRD) gene: molecular characterisation and tissue-specific expression

Williams-Beuren syndrome associated with caudal regression syndrome and coagulopathy--a case report.