Lista de obras -

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

artículo científico publicado en 2018

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

artículo científico publicado en 2011

Clinical utility gene card for: 3-M syndrome - update 2013.

artículo científico publicado en 2013

Clinical utility gene card for: 3M syndrome

artículo científico

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

De novo mutations in MLL cause Wiedemann-Steiner syndrome

artículo científico publicado en 2012

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

artículo científico

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

artículo científico publicado en 2014

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

artículo científico publicado en 2011

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

artículo científico publicado en 2010

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

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

article

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

artículo científico publicado en 2014

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

artículo científico publicado en 2011

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

artículo científico publicado en 2013

New insights into genotype-phenotype correlation for GLI3 mutations

artículo científico publicado en 2014

Pierre Robin Sequence: A series of 117 consecutive cases

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

scientific article published on 01 February 2009

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

artículo científico publicado en 2016

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

artículo científico publicado en 2015

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

Lista de obras de

Bisphosphonate therapy for spinal osteoporosis in Hajdu-Cheney syndrome - new data and literature review

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

Clinical utility gene card for: 3-M syndrome - update 2013.

Clinical utility gene card for: 3M syndrome

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.

De novo mutations in MLL cause Wiedemann-Steiner syndrome

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

Delineation of EFTUD2 haploinsufficiency-related phenotypes through a series of 36 patients

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

High-throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

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

Identification and Characterization of Known Biallelic Mutations in the () Gene in a Novel Family With Bardet-Biedl Syndrome

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

Mutations in NOTCH2 cause Hajdu-Cheney syndrome, a disorder of severe and progressive bone loss

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

New insights into genotype-phenotype correlation for GLI3 mutations

Pierre Robin Sequence: A series of 117 consecutive cases

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

Rodriguez acrofacial dysostosis is caused by apparently de novo heterozygous mutations in the SF3B4 gene.

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

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