Lista de obras -

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

artículo científico publicado en 2008

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

artículo científico publicado en 2007

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

article

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

artículo científico publicado en 2002

Cochlear implants for DFNA17 deafness

artículo científico publicado en 2006

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

artículo científico publicado en 2015

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

article

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

artículo científico publicado en 2007

Deletions that reveal recessive genes

artículo científico publicado en 2007

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.

artículo científico publicado en 2005

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

artículo científico publicado en 2009

Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation

artículo científico publicado en 2013

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

artículo científico publicado en 2004

Familial digital arthropathy-brachydactyly

artículo científico publicado en 2002

Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families

artículo científico publicado en 2004

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

artículo científico publicado en 2012

High frequency hearing loss correlated with mutations in the GJB2 gene

artículo científico publicado en 2000

Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3-->q21

artículo científico publicado en 2002

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem

artículo científico publicado en 2000

Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis

artículo científico publicado en 2002

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

artículo científico publicado en 2004

MURCS and thenar hypoplasia

artículo científico publicado en 2007

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

artículo científico publicado en 2005

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

article

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

artículo científico publicado en 2015

No evidence of RET germline mutations in familial pituitary adenoma.

artículo científico publicado en 2010

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia

artículo científico publicado en 2002

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy

article

Periventricular heterotopia in common microdeletion syndromes

artículo científico publicado en 2010

Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation

artículo científico publicado el 1 de enero de 2001

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

artículo científico publicado en 1998

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

artículo científico publicado en 2015

Severe fetal brain dysgenesis with focal calcification.

artículo científico publicado en 2005

Spinocerebellar ataxia type 15

artículo científico publicado en 2012

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

artículo científico publicado en 2003

Spinocerebellar ataxia type 15.

artículo científico publicado en 2005

Spinocerebellar ataxia type 20.

artículo científico publicado en 2012

Spinocerebellar ataxia type 20.

artículo científico publicado en 2005

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

artículo científico publicado en 2011

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

artículo científico publicado en 2018

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)

scientific article published on 27 November 2009

Lista de obras de

A duplication at chromosome 11q12.2-11q12.3 is associated with spinocerebellar ataxia type 20

A novel splice site mutation in EYA4 causes DFNA10 hearing loss.

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

Chromosomal abnormalities and epilepsy: a review for clinicians and gene hunters

Cochlear implants for DFNA17 deafness

Congenital mirror movements: phenotypes associated with DCC and RAD51 mutations.

Corrigendum: Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth

Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans

Deletions that reveal recessive genes

Dentatorubral-pallidoluysian atrophy in three generations, with clinical courses from nearly asymptomatic elderly to severe juvenile, in an Australian family of Macedonian descent.

Development of a multiplex ligation-dependent probe amplification assay for diagnosis and estimation of the frequency of spinocerebellar ataxia type 15.

Diagnostic genetics at a distance: von hippel-lindau disease and a novel mutation

Dominantly inherited ataxia and dysphonia with dentate calcification: spinocerebellar ataxia type 20.

Familial digital arthropathy-brachydactyly

Frequency of the ATM IVS10-6T-->G variant in Australian multiple-case breast cancer families

Genetic counselling and ethical issues with chromosome microarray analysis in prenatal testing

High frequency hearing loss correlated with mutations in the GJB2 gene

Identification of a haplosufficient 3.6-Mb region in human chromosome 11q14.3-->q21

Identification of a novel missense mutation L329I in the episodic ataxia type 1 gene KCNA1--a challenging problem

Isochromosome 5p mosaicism at prenatal diagnosis: observations and outcomes in six cases at chorionic villus sampling and one at amniocentesis

Isolated Robin sequence associated with a balanced t(2;17) chromosomal translocation

MURCS and thenar hypoplasia

Molecular breakpoint cloning and gene expression studies of a novel translocation t(4;15)(q27;q11.2) associated with Prader-Willi syndrome

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Mutations in the PP2A regulatory subunit B family genes PPP2R5B, PPP2R5C and PPP2R5D cause human overgrowth.

No evidence of RET germline mutations in familial pituitary adenoma.

Paternally inherited inactivating mutations of the GNAS1 gene in progressive osseous heteroplasia

Penetrance and expressivity of the R858H CACNA1C variant in a five-generation pedigree segregating an arrhythmogenic channelopathy

Periventricular heterotopia in common microdeletion syndromes

Profuse familial adenomatous polyposis with an adenomatous polyposis coli exon 3 mutation

Reduced collagen VI causes Bethlem myopathy: a heterozygous COL6A1 nonsense mutation results in mRNA decay and functional haploinsufficiency

SNP Analysis and Whole Exome Sequencing: Their Application in the Analysis of a Consanguineous Pedigree Segregating Ataxia

Severe fetal brain dysgenesis with focal calcification.

Spinocerebellar ataxia type 15

Spinocerebellar ataxia type 15 (sca15) maps to 3p24.2-3pter: exclusion of the ITPR1 gene, the human orthologue of an ataxic mouse mutant

Spinocerebellar ataxia type 15.

Spinocerebellar ataxia type 20.

Spinocerebellar ataxia type 20.

TRPV4 related skeletal dysplasias: a phenotypic spectrum highlighted byclinical, radiographic, and molecular studies in 21 new families.

The genetics of recurrent hydatidiform moles: new insights and lessons from a comprehensive analysis of 113 patients.

Three Mendelian disorders (chronic granulomatous disease, retinitis pigmentosa, ornithine transcarbamylase deficiency) in a young woman with an X chromosome deletion, del(X)(p11.4p21.1)