List of works - Muriel Holder-Espinasse

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

scientific article published on 4 April 2018

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

scientific article

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

scientific article

Clinical utility gene card for: 3M syndrome

scientific article published on 02 March 2011

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.

scientific article published on 12 April 2012

De novo mutations in MLL cause Wiedemann-Steiner syndrome

scientific article

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

scientific article published on 14 January 2008

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

scientific article

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

scientific article

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

scientific article

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.

scientific article published on 5 November 2014

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

scientific article

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

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

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.

scientific article

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

scientific article published on 18 March 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

scientific article

List of works by Muriel Holder-Espinasse

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