List of works - Martine Le Merrer

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

scientific article

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

scientific article

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

scientific article published on February 2013

C5orf42 is the major gene responsible for OFD syndrome type VI.

scientific article published on November 2013

Cantú syndrome is caused by mutations in ABCC9.

scientific article

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome

scientific article published on April 2002

Clinical and molecular overlap in overgrowth syndromes.

scientific article published in August 2005

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

scientific article (publication date: December 2003)

Clinical utility gene card for: hypophosphatasia - update 2013.

scientific article

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

scientific article

Craniovertebral junction anomalies in achondroplastic children

scientific article published on January 2014

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

scientific article

Ellis-van Creveld syndrome

scientific article

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

scientific article

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

scientific article

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

scientific article

Fetal fibrochondrogenesis at 26 weeks' gestation

scientific article

Fibrodysplasia ossificans progressiva

scientific article published on March 2008

Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines

scientific article

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

scientific article

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

scientific article

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of mutations in CUL7 in 3-M syndrome

scientific article

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

scientific article published in June 2006

Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management

scientific article published on April 2014

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

scientific article

Lamin a truncation in Hutchinson-Gilford progeria.

scientific article

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

scientific article

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

scientific article published on 17 March 2011

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

scientific article

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

scientific article

Mutations in KCTD1 cause scalp-ear-nipple syndrome

scientific article

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

scientific article published on July 2008

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

scientific article (publication date: February 2003)

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

scientific article

New insights into genotype-phenotype correlation for GLI3 mutations

scientific article

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

scientific article

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

scientific article

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

scientific article published in January 2011

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

scientific article published on 27 June 2013

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

scientific article

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

scientific article

Prenatal cortical hyperostosis with COL1A1 gene mutation

scientific article

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

scientific article published on 29 November 2006

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

scientific article

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

scientific article

Recent advances in Dyggve-Melchior-Clausen syndrome

scientific article published in September 2004

Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009.

scientific article

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

scientific article

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

scientific article

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

scientific article

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

scientific article published on 2 December 2015

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

scientific article

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

scientific article

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients

scientific article (publication date: August 2006)

List of works by Martine Le Merrer

ADAMTSL2 mutations in geleophysic dysplasia demonstrate a role for ADAMTS-like proteins in TGF-beta bioavailability regulation

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

C5orf42 is the major gene responsible for OFD syndrome type VI.

Cantú syndrome is caused by mutations in ABCC9.

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome

Clinical and molecular overlap in overgrowth syndromes.

Clinical homogeneity and genetic heterogeneity in Weill-Marchesani syndrome

Clinical utility gene card for: hypophosphatasia - update 2013.

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1

Craniovertebral junction anomalies in achondroplastic children

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III

Ellis-van Creveld syndrome

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis

Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome

Fetal fibrochondrogenesis at 26 weeks' gestation

Fibrodysplasia ossificans progressiva

Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines

Further delineation of CANT1 phenotypic spectrum and demonstration of its role in proteoglycan synthesis

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

Identification of CANT1 mutations in Desbuquois dysplasia

Identification of mutations in CUL7 in 3-M syndrome

Interstitial 9q22.3 microdeletion: clinical and molecular characterisation of a newly recognised overgrowth syndrome.

Ischiovertebral dysplasia: a retrospective analysis of 30 consecutive cases pointing out the specifics and risks of the spine management

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy

Lamin a truncation in Hutchinson-Gilford progeria.

Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications

Mutations in KCTD1 cause scalp-ear-nipple syndrome

Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias

New insights into genotype-phenotype correlation for GLI3 mutations

Novel FGFR3 mutations creating cysteine residues in the extracellular domain of the receptor cause achondroplasia or severe forms of hypochondroplasia

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome

Prenatal cortical hyperostosis with COL1A1 gene mutation

Preselection of cases through expert clinical and radiological review significantly increases mutation detection rate in multiple epiphyseal dysplasia

Pseudoachondroplasia and multiple epiphyseal dysplasia: a 7-year comprehensive analysis of the known disease genes identify novel and recurrent mutations and provides an accurate assessment of their relative contribution

Radiographic features of the skeleton in disorders of post-squalene cholesterol biosynthesis

Recent advances in Dyggve-Melchior-Clausen syndrome

Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype-phenotype correlation. Mutation in brief #960. Online

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

Tartrate-resistant acid phosphatase deficiency causes a bone dysplasia with autoimmunity and a type I interferon expression signature

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

Thromboxane synthase mutations in an increased bone density disorder (Ghosal syndrome).

Truncating mutations in the last exon of NOTCH2 cause a rare skeletal disorder with osteoporosis

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients