Lista de obras - Celine Huber - Dominio Público Uruguay

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

artículo científico publicado en 2007

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

artículo científico publicado en 2008

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

artículo científico publicado en 2008

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

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

artículo científico publicado en 2005

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

artículo científico publicado en 2004

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

artículo científico publicado en 2004

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

artículo científico publicado en 2001

Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families.

artículo científico publicado en 2012

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

artículo científico

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

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

artículo científico publicado en 2018

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

artículo científico publicado en 2006

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

artículo científico publicado en 2016

Ciliary disorder of the skeleton ⬇️

artículo científico publicado el 12 de julio de 2012

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

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

artículo científico publicado en 2016

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

artículo científico publicado en 2009

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

artículo científico publicado en 2013

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

artículo científico publicado en 2012

Genetic homogeneity of the Camurati-Engelmann disease

scientific article published on 01 August 2000

Génétique et gène SHOX

article

High incidence of SHOX anomalies in individuals with short stature.

artículo científico publicado en 2006

Hip dislocation in 3-M syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2014

IMPAD1 mutations in two Catel-Manzke like patients

scientific article published on 06 August 2012

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

artículo científico publicado en 2016

Identification of CANT1 mutations in Desbuquois dysplasia

scientific article published on 22 October 2009

Identification of mutations in CUL7 in 3-M syndrome

artículo científico publicado en 2005

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

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

artículo científico publicado en 2009

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

artículo científico publicado en 2015

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

artículo científico publicado en 2015

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome

artículo científico publicado en 2014

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

artículo científico publicado en 2012

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

artículo científico publicado en 2004

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

scientific article published on 01 January 2010

SHOX point mutations in dyschondrosteosis

artículo científico publicado en 2001

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

artículo científico publicado en 2005

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

artículo científico publicado en 2013

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

artículo científico publicado en 2015

The 3M syndrome

artículo científico publicado en 2011

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

artículo científico publicado en 2013

XYLT1 mutations in Desbuquois dysplasia type 2.

scientific article published on 27 February 2014

Lista de obras de Celine Huber

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

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

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

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

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

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

ADAMTS10 mutations in autosomal recessive Weill-Marchesani syndrome

Allelic and nonallelic heterogeneity in dyschondrosteosis (Leri-Weill syndrome)

Asphyxiating Thoracic Dysplasia: clinical and molecular review of 42 families.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

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

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

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

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

Ciliary disorder of the skeleton ⬇️

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

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

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

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia

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

Genetic homogeneity of the Camurati-Engelmann disease

Génétique et gène SHOX

High incidence of SHOX anomalies in individuals with short stature.

Hip dislocation in 3-M syndrome

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

IMPAD1 mutations in two Catel-Manzke like patients

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

Identification of CANT1 mutations in Desbuquois dysplasia

Identification of mutations in CUL7 in 3-M syndrome

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

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

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

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

Mutations in SNRPB, encoding components of the core splicing machinery, cause cerebro-costo-mandibular syndrome

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

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

OBSL1mutations in 3-M syndrome are associated with a modulation ofIGFBP2andIGFBP5expression levels

SHOX point mutations in dyschondrosteosis

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

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

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

The 3M syndrome

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

XYLT1 mutations in Desbuquois dysplasia type 2.