Lista de obras - Gary Bellus - Dominio Público Uruguay

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

artículo científico publicado en 1999

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

artículo científico publicado en 1995

Achondroplasia and nail-patella syndrome: the compound phenotype.

artículo científico publicado en 2000

Achondroplasia is defined by recurrent G380R mutations of FGFR3

artículo científico publicado en 1995

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.

artículo científico publicado en 2014

Confirmatory linkage of hypochondroplasia to chromosome arm 4p

scientific article published on 01 July 1995

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

artículo científico publicado en 2000

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

artículo científico publicado en 2011

Exclusion of candidate genes and loci for multiple lentigines syndrome

scientific article published on 01 August 2002

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

scientific article published on 01 November 1994

Genes, growth factors and acanthosis nigricans.

artículo científico publicado en 2002

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

artículo científico publicado en 2015

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.

artículo científico publicado en 1996

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

artículo científico publicado en 1996

Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

artículo científico publicado en 2011

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

artículo científico publicado en 2011

Identification of novel candidate disease genes from de novo exonic copy number variants.

artículo científico publicado en 2017

Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy

artículo científico publicado en 2011

In organello mitochondrial protein and RNA synthesis systems from Saccharomyces cerevisiae

artículo científico publicado en 1996

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

artículo científico publicado en 1994

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia

artículo científico publicado en 1998

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization

artículo científico publicado en 2010

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

artículo científico publicado en 2003

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome ⬇️

artículo científico publicado el 1 de septiembre de 1998

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.

artículo científico publicado en 2007

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

artículo científico publicado en 2011

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

artículo científico publicado en 1999

The pleiotropic effects of fibroblast growth factor receptors in mammalian development.

artículo científico publicado en 2000

What syndrome is this? Ehlers-Danlos syndrome

artículo científico publicado en 2001

What syndrome is this? Gingival fibromatosis-hypertrichosis syndrome

artículo científico publicado en 2001

Lista de obras de Gary Bellus

A novel skeletal dysplasia with developmental delay and acanthosis nigricans is caused by a Lys650Met mutation in the fibroblast growth factor receptor 3 gene

A recurrent mutation in the tyrosine kinase domain of fibroblast growth factor receptor 3 causes hypochondroplasia

Achondroplasia and nail-patella syndrome: the compound phenotype.

Achondroplasia is defined by recurrent G380R mutations of FGFR3

Compound heterozygosity for a frame shift mutation and a likely pathogenic sequence variant in the planar cell polarity—ciliogenesis gene WDPCP in a girl with polysyndactyly, coarctation of the aorta, and tongue hamartomas.

Confirmatory linkage of hypochondroplasia to chromosome arm 4p

Distinct missense mutations of the FGFR3 lys650 codon modulate receptor kinase activation and the severity of the skeletal dysplasia phenotype

Early-onset seizures due to mosaic exonic deletions of CDKL5 in a male and two females.

Exclusion of candidate genes and loci for multiple lentigines syndrome

First-trimester prenatal diagnosis in couple at risk for homozygous achondroplasia

Genes, growth factors and acanthosis nigricans.

High Incidence of Noonan Syndrome Features Including Short Stature and Pulmonic Stenosis in Patients carrying NF1 Missense Mutations Affecting p.Arg1809: Genotype-Phenotype Correlation

Hypochondroplasia: molecular analysis of the fibroblast growth factor receptor 3 gene.

Identical mutations in three different fibroblast growth factor receptor genes in autosomal dominant craniosynostosis syndromes

Identical twin sisters with Rubinstein-Taybi syndrome associated with Chiari malformations and syrinx.

Identification of SPRED1 deletions using RT-PCR, multiplex ligation-dependent probe amplification and quantitative PCR.

Identification of novel candidate disease genes from de novo exonic copy number variants.

Immunosuppression and sebaceous tumors: a confirmed diagnosis of Muir-Torre syndrome unmasked by immunosuppressive therapy

In organello mitochondrial protein and RNA synthesis systems from Saccharomyces cerevisiae

Localization of the achondroplasia gene to the distal 2.5 Mb of human chromosome 4p

Long-term use of high-dose benzoate and dextromethorphan for the treatment of nonketotic hyperglycinemia

Male with mosaicism for supernumerary ring X chromosome: analysis of phenotype and characterization of genotype using array comparative genome hybridization

Mesomelic and rhizomelic short stature: The phenotype of combined Leri-Weill dyschondrosteosis and achondroplasia or hypochondroplasia

Mutations in Fibroblast Growth-Factor Receptor 3 in Sporadic Cases of Achondroplasia Occur Exclusively on the Paternally Derived Chromosome ⬇️

On the spectrum of limb-body wall complex, exstrophy of the cloaca, and urorectal septum malformation sequence.

Recurrent deletions and reciprocal duplications of 10q11.21q11.23 including CHAT and SLC18A3 are likely mediated by complex low-copy repeats

Severe achondroplasia with developmental delay and acanthosis nigricans (SADDAN): phenotypic analysis of a new skeletal dysplasia caused by a Lys650Met mutation in fibroblast growth factor receptor 3

The pleiotropic effects of fibroblast growth factor receptors in mammalian development.

What syndrome is this? Ehlers-Danlos syndrome

What syndrome is this? Gingival fibromatosis-hypertrichosis syndrome