C. Huber

发表

V. Cormier-Daire, C. Huber, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in KIAA0586 Cause Lethal Ciliopathies Ranging from a Hydrolethalus Phenotype to Short-Rib Polydactyly Syndrome.

A. Munnich, A. Mégarbané, F. Clerget-Darpoux, 2015, American journal of human genetics.

A new osteogenesis imperfecta with improvement over time maps to 11q

A. Munnich, S. Pannier, V. Cormier-Daire, 2008, American journal of medical genetics. Part A.

Biallelic variants in KYNU cause a multisystemic syndrome with hand hyperphalangism.

M. Holtgrewe, C. Gonzaga-Jauregui, J. Overton, 2020, Bone.

A large-scale mutation search reveals genetic heterogeneity in 3M syndrome

D. Sillence, A. Munnich, J. Melki, 2009, European Journal of Human Genetics.

Clinical and Radiological Characteristics of 22 Children with SHOX Anomalies and Familial Short Stature Suggestive of Léri-Weill Dyschondrosteosis

V. Cormier-Daire, M. Nicolino, C. Huber, 2011, Hormone Research in Paediatrics.

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome.

A. Munnich, A. Mégarbané, L. Faivre, 2004, American journal of human genetics.

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

A. Munnich, D. Cavalcanti, S. Smithson, 2009, American journal of human genetics.

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

Gabriele Gillessen-Kaesbach, Dagmar Wieczorek, Na Zhu, 2014, American journal of human genetics.

Identification of CANT1 mutations in Desbuquois dysplasia.

A. Munnich, S. Robertson, G. Mortier, 2009, American journal of human genetics.

IMPAD1 mutations in two Catel‐Manzke like patients

D. Sillence, A. Munnich, B. Tuysuz, 2012, American journal of medical genetics. Part A.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

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

A. Munnich, J. Bonaventure, J. Moreau, 2004, American journal of human genetics.

Bi-allelic Variants in TONSL Cause SPONASTRIME Dysplasia and a Spectrum of Skeletal Dysplasia Phenotypes.

Lisa T. Emrick, Ivan K. Chinn, Denise G. Lanza, 2019, American journal of human genetics.

Sulphate transporter gene mutations in apparently isolated club foot

A. Munnich, V. Cormier-Daire, S. Odent, 2001, Journal of Medical Genetics.

A novel association of the SMN protein with two major non-ribosomal nucleolar proteins and its implication in spinal muscular atrophy.

A. Munnich, S. Lefebvre, P. Burlet, 2002, Human molecular genetics.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

A. Munnich, G. Mortier, G. Scarano, 2012, Journal of Medical Genetics.

XYLT1 mutations in Desbuquois dysplasia type 2.

A. Munnich, G. Mortier, C. Bole-Feysot, 2014, American journal of human genetics.

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

A. Munnich, D. Cavalcanti, M. Vekemans, 2009, Journal of Medical Genetics.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

A new case of KIAA0753-related variant of Jeune asphyxiating thoracic dystrophy.

V. Cormier-Daire, C. Huber, L. Van Maldergem, 2019, European journal of medical genetics.

Mutations in IFT80 cause SRPS Type IV. Report of two families and review

J. Roume, V. Cormier-Daire, T. Attié-Bitach, 2019, American journal of medical genetics. Part A.

Calcium activated nucleotidase 1 (CANT1) is critical for glycosaminoglycan biosynthesis in cartilage and endochondral ossification

J. Schwartz, K. Tian, M. Biggiogera, 2019, Matrix biology : journal of the International Society for Matrix Biology.

Ellis-Van Creveld Syndrome: Clinical and Molecular Analysis of 50 Individuals

V. Cormier-Daire, T. Attié-Bitach, C. Huber, 2022, Journal of Medical Genetics.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009 .

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human genetics.

Identification of 15 novel partial SHOX deletions and 13 partial duplications, and a review of the literature reveals intron 3 to be a hotspot region

A. Zinn, N. S. Thomas, J. Ross, 2016, Journal of Human Genetics.

Mutations in cytokine receptor-like factor 1 (CRLF1) account for both Crisponi and cold-induced sweating syndromes.

A. Munnich, L. Al-Gazali, S. Bellais, 2007, American journal of human genetics.

Clinical diversity and molecular mechanism of VPS35L-associated Ritscher-Schinzel syndrome

E. van Binsbergen, N. Matsumoto, S. Saitoh, 2022, Journal of Medical Genetics.

Fibroblasts derived from patients with opsismodysplasia display SHIP2‐specific cell migration and adhesion defects

C. Erneux, V. Cormier-Daire, M. Wright, 2017, Human mutation.

Genetic homogeneity of the Camurati–Engelmann disease

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2000, Clinical genetics.

Serum bikunin isoforms in congenital disorders of glycosylation and linkeropathies

A. Afenjar, E. Colin, V. Cormier-Daire, 2020, Journal of inherited metabolic disease.

The distribution of SMN protein complex in human fetal tissues and its alteration in spinal muscular atrophy.

A. Munnich, J. Roume, S. Lefebvre, 1998, Human molecular genetics.

A novel class of Pseudoautosomal region 1 deletions downstream of SHOX is associated with Leri-Weill dyschondrosteosis.

V. Maloney, J. Crolla, N. S. Thomas, 2005, American journal of human genetics.

Homozygous Loss‐of‐Function Mutations in CCDC134 Are Responsible for a Severe Form of Osteogenesis Imperfecta

V. Cormier-Daire, P. Chavassieux, A. Khairouni, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

SHOX point mutations in dyschondrosteosis

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2001, Journal of medical genetics.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human mutation.

High incidence of SHOX anomalies in individuals with short stature

A. Munnich, V. Cormier-Daire, C. Huber, 2006, Journal of Medical Genetics.

Germline and Mosaic Variants in PRKACA and PRKACB Cause a Multiple Congenital Malformation Syndrome.

Susan S. Taylor, I. Scheffer, G. Mortier, 2020, American journal of human genetics.

The 3M syndrome.

A. Munnich, V. Cormier-Daire, C. Huber, 2011, Best practice & research. Clinical endocrinology & metabolism.

FAM46A mutations are responsible for autosomal recessive osteogenesis imperfecta

A. Munnich, P. Lapunzina, V. Cormier-Daire, 2018, Journal of Medical Genetics.

Identification of mutations in CUL7 in 3-M syndrome

A. Munnich, P. Scambler, R. Hennekam, 2005, Nature Genetics.

Characterization of SHOX deletions in Leri-Weill dyschondrosteosis (LWD) reveals genetic heterogeneity and no recombination hotspots.

V. Maloney, N. S. Thomas, J. Argente, 2006, American journal of human genetics.

Novel RPL13 Variants and Variable Clinical Expressivity in a Human Ribosomopathy With Spondyloepimetaphyseal Dysplasia

O. Mäkitie, A. Warren, T. Cho, 2020, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

Absence of GP130 cytokine receptor signaling causes extended Stüve-Wiedemann syndrome

D. Gisselsson, V. Shanmugasundaram, F. Alkuraya, 2020, The Journal of experimental medicine.

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

A. Munnich, D. Rimoin, Sulin Wu, 2013, American journal of human genetics.

[Genetics and the SHOX gene].

V. Cormier-Daire, C. Huber, 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics and centrosome cohesion.

P. Shannon, D. Chitayat, S. Saunier, 2019, Human molecular genetics.

A novel form of syndromic cutis laxa with facial dysmorphism, cleft palate, and mental retardation

C. Bodemer, A. Munnich, A. Verloes, 2004, Journal of Medical Genetics.

The RNA-binding properties of SMN: deletion analysis of the zebrafish orthologue defines domains conserved in evolution.

A. Munnich, D. Thierry-Mieg, S. Lefebvre, 1999, Human molecular genetics.

Severe, atypical form of dyschondrosteosis (report of two cases)

V. Cormier-Daire, C. Huber, K. Kozłowski, 2005, European Journal of Pediatrics.

Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): A potential role of pericentrin in hematopoiesis

S. Unal, V. Cormier-Daire, E. Utine, 2014, Pediatric blood & cancer.

Dandy-Walker variant malformation, spastic paraplegia, and mental retardation in two sibs.

C. Stoll, Y. Alembik, C. Huber, 1990, American journal of medical genetics.

Chondrodysplasia with multiple dislocations: comprehensive study of a series of 30 cases

C. Bole-Feysot, P. Nitschké, A. Gezdirici, 2017, Clinical genetics.

Biallelic KIF24 Variants Are Responsible for a Spectrum of Skeletal Disorders Ranging From Lethal Skeletal Ciliopathy to Severe Acromesomelic Dysplasia

Myrthe van den Born, S. Saunier, M. Knapen, 2022, Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research.

SLC10A7 mutations cause a skeletal dysplasia with amelogenesis imperfecta mediated by GAG biosynthesis defects

A. Munnich, B. Tüysüz, R. Maroofian, 2018, Nature Communications.

Corrigendum: TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Gail Clement, Jie Huang, Inês Barroso, 2016, Nature Communications.

Serum bikunin is a biomarker of linkeropathies.

V. Cormier-Daire, C. Poüs, C. Huber, 2018, Clinica chimica acta; international journal of clinical chemistry.

A non‐pathogenic pseudoautosomal region 1 (PAR1) copy number variant downstream of SHOX

A. Munnich, V. Cormier-Daire, E. Levy-Lahad, 2011, American journal of medical genetics. Part A.

Calvarial doughnut lesions with bone fragility in a French-Canadian family; case report and review of the literature

O. Mäkitie, R. Drouin, Philippe M. Campeau, 2021, Bone reports.

Mosaic compound heterozygosity of SHOX resulting in Leri–Weill dyschondrosteosis with marked short stature: Implications for disease mechanisms and recurrence risks

A. Munnich, V. Cormier-Daire, E. Levy-Lahad, 2010, American journal of medical genetics. Part A.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport

Tom R. Gaunt, Thomas M. Keane, Colin A. Johnson, 2015, Nature Communications.

Hip dislocation in 3-M syndrome: risk of misdiagnosis.

S. Pannier, V. Cormier-Daire, C. Glorion, 2011, Clinical dysmorphology.

Bi-allelic Variations of SMO in Humans Cause a Broad Spectrum of Developmental Anomalies Due to Abnormal Hedgehog Signaling.

R. Hofstra, J. Christodoulou, C. Bole-Feysot, 2020, American journal of human genetics.

Expanding the phenotype in Adams–Oliver syndrome correlating with the genotype

S. Lyonnet, F. Di Rocco, M. Rio, 2020, American journal of medical genetics. Part A.

TCTEX1D2 mutations underlie Jeune asphyxiating thoracic TCTEX1D2 mutations underlie Jeune asphyxiating thoracic dystrophy with impaired retrograde intraflagellar transport dystrophy with impaired retrograde intraflagellar transport

Colin A. Johnson, P. Scambler, S. Letteboer, 2021 .

A gene responsible for Ghosal hemato-diaphyseal dysplasia maps to chromosome 7q33–34

A. Munnich, B. Isidor, B. Bader-Meunier, 2007, Human Genetics.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

V. Cormier-Daire, C. Francannet, C. Huber, 2023, Journal of medical genetics.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

The 3M syndrome.

A. Munnich, V. Cormier-Daire, C. Huber, 2011, Best practice & research. Clinical endocrinology & metabolism.

Mutations in SNRPB, Encoding Components of the Core Splicing Machinery, Cause Cerebro‐Costo‐Mandibular Syndrome

A. Munnich, P. Nitschké, D. Lacombe, 2015, Human Mutation.

Human IFT52 mutations uncover a novel role for the protein in microtubule dynamics 1 and centrosome cohesion 2

S. Saunier, C. Jeanpierre, M. Garfa-Traoré, 2020 .

Heterozygous FGFR1 mutation may be responsible for an incomplete form of osteoglophonic dysplasia, characterized only by radiolucent bone lesions and teeth retentions.

V. Cormier-Daire, M. Panuel, C. Huber, 2020, European journal of medical genetics.