Lista de obras -

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

artículo científico publicado en 2012

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

artículo científico publicado en 2015

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

artículo científico publicado en 2012

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

artículo científico publicado en 2015

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

artículo científico publicado en 2012

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

artículo científico publicado en 2004

Bone morphogenetic protein antagonist gene NOG is involved in myeloproliferative disease associated with myelofibrosis

artículo científico publicado en 2007

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

artículo científico publicado en 2012

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

artículo científico publicado en 2013

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

artículo científico publicado en 2011

Clinical utility gene card for: 16p13.11 microdeletion syndrome

artículo científico publicado en 2013

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies

artículo científico publicado en 2009

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

artículo científico publicado en 2012

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

artículo científico publicado en 2015

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

artículo científico

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

artículo científico publicado en 2014

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

artículo científico publicado en 2013

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

artículo científico publicado en 2011

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

artículo científico publicado en 2013

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Extended spectrum of MBD5 mutations in neurodevelopmental disorders ⬇️

artículo científico publicado el 20 de febrero de 2013

FOXP1-related intellectual disability syndrome: a recognisable entity

artículo científico publicado en 2017

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

artículo científico publicado en 2017

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

artículo científico publicado en 2011

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

artículo científico

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

artículo científico publicado en 2017

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

artículo científico publicado en 2017

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

artículo científico publicado en 2014

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

artículo científico publicado en 2013

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

artículo científico publicado en 2015

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

artículo científico publicado en 2015

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

artículo científico publicado en 2011

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

artículo científico publicado en 2014

On the role of FAN1 in Fanconi anemia

artículo científico publicado en 2012

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

scientific article published on 01 February 2009

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

artículo científico publicado en 2005

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

artículo científico publicado en 2016

TPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphoma

artículo científico publicado en 2002

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

artículo científico publicado en 2016

The PI3K/AKT signaling pathway controls the quiescence of the low-Rhodamine123-retention cell compartment enriched for melanoma stem cell activity.

artículo científico publicado en 2013

The clinical significance of small copy number variants in neurodevelopmental disorders

artículo científico publicado en 2014

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

artículo científico publicado en 2015

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

artículo científico publicado el 20 de junio de 2013

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

artículo científico publicado en 2011

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction

artículo científico

Lista de obras de

12p13.33 microdeletion including ELKS/ERC1, a new locus associated with childhood apraxia of speech

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

A 600 kb deletion syndrome at 16p11.2 leads to energy imbalance and neuropsychiatric disorders

A Potential Contributory Role for Ciliary Dysfunction in the 16p11.2 600 kb BP4-BP5 Pathology

A new deletion ablating NESP55 causes loss of maternal imprint of A/B GNAS and autosomal dominant pseudohypoparathyroidism type Ib

Alpha-synuclein locus duplication as a cause of familial Parkinson's disease

Bone morphogenetic protein antagonist gene NOG is involved in myeloproliferative disease associated with myelofibrosis

Chromosomal aberrations and their prognostic value in a series of 174 untreated patients with Waldenström's macroglobulinemia

Chromosomal imbalance letter: Phenotypic consequences of combined deletion 8pter and duplication 15qter

Chromosome 1p21.3 microdeletions comprising DPYD and MIR137 are associated with intellectual disability

Clinical utility gene card for: 16p13.11 microdeletion syndrome

Comparative genomic hybridization array study and its utility in detection of constitutional and acquired anomalies

De novo microdeletions of chromosome 6q14.1-q14.3 and 6q12.1-q14.1 in two patients with intellectual disability - further delineation of the 6q14 microdeletion syndrome and review of the literature.

Defining the Effect of the 16p11.2 Duplication on Cognition, Behavior, and Medical Comorbidities

Deletion 18q21.2q21.32 involving TCF4 in a boy diagnosed by CGH-array

Distal Deletion of Chromosome 11q Encompassing Jacobsen Syndrome without Platelet Abnormality

Dosage changes of MED13L further delineate its role in congenital heart defects and intellectual disability.

Duplication at chromosome 2q31.1-q31.2 in a family presenting syndactyly and nystagmus.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes.

Erratum to: Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Extended spectrum of MBD5 mutations in neurodevelopmental disorders ⬇️

FOXP1-related intellectual disability syndrome: a recognisable entity

Genetic and phenotypic dissection of 1q43q44 microdeletion syndrome and neurodevelopmental phenotypes associated with mutations in ZBTB18 and HNRNPU.

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

Genotype-phenotype analysis of 18q12.1-q12.2 copy number variation in autism

Haploinsufficiency for ANKRD11-flanking genes makes the difference between KBG and 16q24.3 microdeletion syndromes: 12 new cases

Haploinsufficiency of the E3 ubiquitin-protein ligase gene TRIP12 causes intellectual disability with or without autism spectrum disorders, speech delay, and dysmorphic features

Hypertelorism-microtia-clefting syndrome (HMC syndrome): prenatal diagnosis in two siblings

Incomplete penetrance and phenotypic variability of 6q16 deletions including SIM1.

Male-biased autosomal effect of 16p13.11 copy number variation in neurodevelopmental disorders.

Microdeletions in 9q33.3-q34.11 in five patients with intellectual disability, microcephaly, and seizures of incomplete penetrance: is STXBP1 not the only causative gene?

Microduplications of 3p26.3p26.2 containing CRBN gene in patients with intellectual disability and behavior abnormalities.

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

Molecular and clinical analyses of 16q24.1 duplications involving FOXF1 identify an evolutionarily unstable large minisatellite

On the role of FAN1 in Fanconi anemia

Prenatal diagnosis of Nager syndrome in a monochorionic-diamniotic twin pregnancy

Prenatal diagnosis of ring chromosome 6 in a fetus with cerebellar hypoplasia and partial agenesis of corpus callosum: case report and review of the literature

Rare Inherited and De Novo CNVs Reveal Complex Contributions to ASD Risk in Multiplex Families

TPA stimulation culture for improved detection of t(11;14)(q13;q32) in mantle cell lymphoma

TSHZ3 deletion causes an autism syndrome and defects in cortical projection neurons

The PI3K/AKT signaling pathway controls the quiescence of the low-Rhodamine123-retention cell compartment enriched for melanoma stem cell activity.

The clinical significance of small copy number variants in neurodevelopmental disorders

The clinical spectrum associated with a chromosome 17 short arm proximal duplication (dup 17p11.2) in three patients

The disruption of a novel limb cis-regulatory element of SHH is associated with autosomal dominant preaxial polydactyly-hypertrichosis

The mitochondrial solute carrier SLC25A5 at Xq24 is a novel candidate gene for non-syndromic intellectual disability ⬇️

Thrombocytopenia-absent radius (TAR) syndrome: a clinical genetic series of 14 further cases. impact of the associated 1q21.1 deletion on the genetic counselling

YY1 Haploinsufficiency Causes an Intellectual Disability Syndrome Featuring Transcriptional and Chromatin Dysfunction