Lista de obras -

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

artículo científico publicado en 2015

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

artículo científico publicado en 2006

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

artículo científico publicado en 2009

Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis

scientific article published on 01 May 2019

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

artículo científico publicado en 2016

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

artículo científico publicado en 2018

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

artículo científico publicado en 2012

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

artículo científico publicado en 2007

Copy number variants in patients with short stature.

artículo científico publicado en 2013

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

artículo científico publicado en 2015

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

artículo científico publicado en 2020

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

scientific article published on 01 September 2019

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

artículo científico publicado en 2009

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

scientific article published on 12 June 2020

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

artículo científico publicado en 2018

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

artículo científico publicado en 2018

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

artículo científico publicado en 2012

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

artículo científico publicado en 2013

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

artículo científico publicado en 2010

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

artículo científico publicado en 2018

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

artículo científico publicado en 2015

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

artículo científico publicado en 2014

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

scientific article published on 13 June 2022

Genome-wide SNP array analysis in patients with features of sotos syndrome

artículo científico publicado en 2010

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

artículo científico publicado en 2011

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

artículo científico publicado en 2004

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

artículo científico publicado en 2014

Interstitial duplication in the proximal long arm of chromosome 16

scientific article published on 01 July 2010

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

artículo científico publicado en 2018

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

artículo científico publicado en 2012

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

artículo científico publicado en 2016

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

artículo científico publicado en 2020

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

artículo científico publicado en 2012

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

article

Molecular and clinical characterization of patients with a ring chromosome 11

artículo científico publicado en 2012

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

artículo científico publicado en 2012

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

artículo científico publicado en 2004

Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects

scientific article published on 28 April 2020

Overgrowth syndromes:from classical to new.

artículo científico publicado en 2009

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

scientific article published on 16 July 2019

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

scientific article published on 19 November 2012

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

artículo científico publicado en 2019

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region

artículo científico publicado en 2013

RNF135 mutations are not present in patients with Sotos syndrome-like features.

artículo científico publicado en 2009

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

scientific article published on 01 March 2010

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

artículo científico publicado en 2017

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification

artículo científico publicado en 2008

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

artículo científico publicado en 2019

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

article

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

scientific article published on 13 November 2019

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

scientific article published on 26 August 2015

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

artículo científico publicado en 2018

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

artículo científico publicado en 2016

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

artículo científico publicado en 2010

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

artículo científico publicado en 2013

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

artículo científico publicado en 2011

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.

artículo científico publicado en 2018

Lista de obras de

A Girl With Beckwith-Wiedemann Syndrome and Pseudohypoparathyroidism Type 1B Due to Multiple Imprinting Defects.

A complex rearrangement on chromosome 22 affecting both homologues; haplo-insufficiency of the Cat eye syndrome region may have no clinical relevance

A new diagnostic workflow for patients with mental retardation and/or multiple congenital abnormalities: test arrays first

Assessment of the Clinical Benefit of Imaging in Children With Unilateral Sensorineural Hearing Loss: A Systematic Review and Meta-analysis

CREBBP mutations in individuals without Rubinstein-Taybi syndrome phenotype.

Characterization of an activating R1353H insulin-like growth factor 1 receptor variant in a male with extreme tall height

Clinical and genetic characteristics and effects of long-term growth hormone therapy in a girl with Floating-Harbor syndrome

Clinical and molecular phenotype of Aicardi-Goutieres syndrome

Copy number variants in patients with short stature.

Copy number variants including RAS pathway genes-How much RASopathy is in the phenotype?

Correction: KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Correction: The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

Craniosynostosis in patients with Noonan syndrome caused by germline KRAS mutations.

De Novo Variants in CNOT1, a Central Component of the CCR4-NOT Complex Involved in Gene Expression and RNA and Protein Stability, Cause Neurodevelopmental Delay

De Novo and Inherited Loss-of-Function Variants in TLK2: Clinical and Genotype-Phenotype Evaluation of a Distinct Neurodevelopmental Disorder.

De novo and inherited loss-of-function variants of ATP2B2 are associated with rapidly progressive hearing impairment.

De novo mutations of the gene encoding the histone acetyltransferase KAT6B cause Genitopatellar syndrome

Different mutations in PDE4D associated with developmental disorders with mirror phenotypes.

Exome sequencing identifies WDR35 variants involved in Sensenbrenner syndrome

Further delineation of an entity caused by CREBBP and EP300 mutations but not resembling Rubinstein-Taybi syndrome.

Further delineation of the KBG syndrome caused by ANKRD11 aberrations

Further delineation of the KBG syndrome phenotype caused by ANKRD11 aberrations

Gain and loss of TASK3 channel function and its regulation by novel variation cause KCNK9 imprinting syndrome

Genome-wide SNP array analysis in patients with features of sotos syndrome

Genomic and clinical characteristics of six patients with partially overlapping interstitial deletions at 10p12p11.

Genotype-phenotype correlation in patients suspected of having Sotos syndrome.

Homozygous and compound-heterozygous mutations in TGDS cause Catel-Manzke syndrome

Interstitial duplication in the proximal long arm of chromosome 16

KAT6A Syndrome: genotype-phenotype correlation in 76 patients with pathogenic KAT6A variants

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement

MECHANISMS IN ENDOCRINOLOGY: Novel genetic causes of short stature

MN1 C-terminal truncation syndrome is a novel neurodevelopmental and craniofacial disorder with partial rhombencephalosynapsis

Meier-Gorlin syndrome genotype-phenotype studies: 35 individuals with pre-replication complex gene mutations and 10 without molecular diagnosis

Meier-Gorlin syndrome: Growth and secondary sexual development of a microcephalic primordial dwarfism disorder

Molecular and clinical characterization of patients with a ring chromosome 11

Mutations in SWI/SNF chromatin remodeling complex gene ARID1B cause Coffin-Siris syndrome

Mutations in the transmembrane natriuretic peptide receptor NPR-B impair skeletal growth and cause acromesomelic dysplasia, type Maroteaux

Novel Clinical Criteria Allow Detection of Short Stature Homeobox-Containing Gene Haploinsufficiency Caused by Either Gene or Enhancer Region Defects

Overgrowth syndromes:from classical to new.

PAPSS2-related brachyolmia: Clinical and radiological phenotype in 18 new cases

Phelan-McDermid syndrome: clinical report of a 70-year-old woman

Phenotypic Features and Response to GH Treatment of Patients With a Molecular Defect of the IGF-1 Receptor

Phenotypic characterization of patients with deletions in the 3'-flanking SHOX region

RNF135 mutations are not present in patients with Sotos syndrome-like features.

Recurrent deletion ofZNF630at Xp11.23 is not associated with mental retardation

Successful Growth Hormone Therapy in Cornelia de Lange Syndrome

Successful long-term growth hormone therapy in a girl with haploinsufficiency of the insulin-like growth factor-I receptor due to a terminal 15q26.2->qter deletion detected by multiplex ligation probe amplification

TGDS pathogenic variants cause Catel-Manzke syndrome without hyperphalangy

The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome

The CHD8 overgrowth syndrome: A detailed evaluation of an emerging overgrowth phenotype in 27 patients

The Koolen-de Vries syndrome: a phenotypic comparison of patients with a 17q21.31 microdeletion versus a KANSL1 sequence variant.

The Tatton-Brown-Rahman Syndrome: A clinical study of 55 individuals with de novo constitutive DNMT3A variants.

The diagnostic yield of whole-exome sequencing targeting a gene panel for hearing impairment in The Netherlands

The jumping SHOX gene--crossover in the pseudoautosomal region resulting in unusual inheritance of Leri-Weill dyschondrosteosis.

The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP

Three new cases with a mosaicism involving a normal cell line and a cryptic unbalanced autosomal reciprocal translocation

Two novel cases expanding the phenotype of SETD2-related overgrowth syndrome.