Lista de obras -

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

artículo científico publicado en 2016

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

artículo científico publicado en 2005

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

artículo científico publicado en 2011

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

scientific journal article

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

scientific journal article

Amniotic bands in paternal half-siblings.

artículo científico publicado en 2010

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease ⬇️

artículo científico publicado el 28 de abril de 2013

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

scientific article published on 24 December 2008

Changes over time in sex assignment for disorders of sex development.

artículo científico publicado en 2014

Clinical and genetic aspects of KBG syndrome.

artículo científico publicado en 2016

Clinical and radiographic delineation of odontochondrodysplasia

artículo científico publicado en 2008

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

scientific article published on 01 October 2004

Contribution of retrotransposition to developmental disorders

artículo científico publicado en 2019

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

artículo científico publicado en 2013

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

artículo científico publicado en 2011

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

artículo científico publicado en 2015

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

scientific article published on 01 April 2019

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility ⬇️

artículo científico publicado el 8 de octubre de 2012

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

artículo científico publicado en 2016

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

artículo científico publicado en 2018

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

artículo científico publicado en 2004

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

article

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

artículo científico publicado en 2016

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

artículo científico publicado en 2013

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

artículo científico publicado en 2010

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings

scientific article published on 01 January 2006

Homozygous mutation in ELMO2 may cause Ramon syndrome.

artículo científico publicado en 2017

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

artículo científico publicado en 2017

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

artículo científico publicado en 2015

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

article

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

artículo científico publicado en 2012

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs

scientific article published on 11 April 2019

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

artículo científico publicado en 2012

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

artículo científico publicado en 2018

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism

artículo científico publicado en 2012

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

artículo científico publicado en 2019

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

artículo científico publicado en 2012

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

article

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

scientific article published on 13 January 2019

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

artículo científico publicado en 2011

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

scientific article published on 07 August 2019

Update on Kleefstra Syndrome ⬇️

artículo científico publicado el 24 de enero de 2012

Lista de obras de

1p13.2 deletion displays clinical features overlapping Noonan syndrome, likely related to NRAS gene haploinsufficiency.

A clinical and molecular study of 26 females with Xp deletions with special emphasis on inherited deletions

A study of a family with the skeletal muscle RYR1 mutation (c.7354C>T) associated with central core myopathy and malignant hyperthermia susceptibility

ALG1-CDG: Clinical and Molecular Characterization of 39 Unreported Patients

AMMECR1: a single point mutation causes developmental delay, midface hypoplasia and elliptocytosis

Amniotic bands in paternal half-siblings.

Bilineal inheritance of PKD1 abnormalities mimicking autosomal recessive polycystic disease ⬇️

Breakpoint mapping and haplotype analysis of three reciprocal translocations identify a novel recurrent translocation in two unrelated families: t(4;11)(p16.2;p15.4)

Changes over time in sex assignment for disorders of sex development.

Clinical and genetic aspects of KBG syndrome.

Clinical and radiographic delineation of odontochondrodysplasia

Clinical features and molecular analysis of seven British kindreds with hereditary hyperferritinaemia cataract syndrome

Contribution of retrotransposition to developmental disorders

Cowden syndrome and the PTEN hamartoma tumor syndrome: how to define rare genetic syndromes.

DFNA8/12 caused by TECTA mutations is the most identified subtype of nonsyndromic autosomal dominant hearing loss.

De novo, heterozygous, loss-of-function mutations in SYNGAP1 cause a syndromic form of intellectual disability.

Deep phenotyping of 14 new patients with IQSEC2 variants, including monozygotic twins of discordant phenotype

Detailed clinical and molecular study of 20 females with Xq deletions with special reference to menstruation and fertility ⬇️

Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects identified by exome sequencing.

Expanding the Spectrum of BAF-Related Disorders: De Novo Variants in SMARCC2 Cause a Syndrome with Intellectual Disability and Developmental Delay

Functional disomy resulting from duplications of distal Xq in four unrelated patients.

Gene-specific criteria for PTEN variant curation: Recommendations from the ClinGen PTEN Expert Panel

Genetic Analysis of 'PAX6-Negative' Individuals with Aniridia or Gillespie Syndrome

Genotype-phenotype spectrum of PYCR1-related autosomal recessive cutis laxa

Glucose transporter-1 deficiency syndrome: the expanding clinical and genetic spectrum of a treatable disorder.

Hereditary hyperferritinemia cataract syndrome: ocular, genetic, and biochemical findings

Homozygous mutation in ELMO2 may cause Ramon syndrome.

Incomplete penetrance, variable expressivity, or dosage insensitivity in four families with directly transmitted unbalanced chromosome abnormalities

Inside the 8p23.1 duplication syndrome; eight microduplications of likely or uncertain clinical significance.

King–Denborough syndrome with and without mutations in the skeletal muscle ryanodine receptor (RYR1) gene

MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome.

Modeling the Pathological Long-Range Regulatory Effects of Human Structural Variation with Patient-Specific hiPSCs

Nablus mask-like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype

New GJA8 variants and phenotypes highlight its critical role in a broad spectrum of eye anomalies.

New insights into thyroglobulin gene: molecular analysis of seven novel mutations associated with goiter and hypothyroidism

PTEN Hamartoma tumor syndrome in childhood: A review of the clinical literature

PTEN mutations as a cause of constitutive insulin sensitivity and obesity.

Phenotype and genotype in 52 patients with Rubinstein-Taybi syndrome caused byEP300mutations

Refining the Primrose syndrome phenotype: A study of five patients with ZBTB20 de novo variants and a review of the literature

Spectrum of mutations in the renin-angiotensin system genes in autosomal recessive renal tubular dysgenesis.

The CHD4-related syndrome: a comprehensive investigation of the clinical spectrum, genotype-phenotype correlations, and molecular basis

Update on Kleefstra Syndrome ⬇️