Search filters

List of works by R J McKinlay Gardner

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

scientific article published on 18 September 2008

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

scientific article

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

article

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

scientific article

Cochlear implants for DFNA17 deafness

scientific article published in December 2006

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

scientific article

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

scientific article published in June 2007

Deletions that reveal recessive genes

scientific article published on 29 August 2007

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

scientific article published in July 2005

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

scientific article

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

scientific article published on 26 August 2013

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

scientific article published on 3 March 2004

Familial digital arthropathy-brachydactyly

scientific article published on March 2002

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

scientific article

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

scientific article published on April 1, 2012

High frequency hearing loss correlated with mutations in the GJB2 gene

scientific article published in April 2000

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

scientific article published on 01 January 2002

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

scientific article (publication date: October 2000)

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

scientific article published in August 2002

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

scientific article published in January 2004

MURCS and thenar hypoplasia

scientific article published on October 2007

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

scientific article

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.

scientific article published on 13 May 2015

No evidence of RET germline mutations in familial pituitary adenoma.

scientific article

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

scientific article published in January 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

scientific article

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

scientific article published on January 1, 2001

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

scientific article

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

scientific article published on 23 October 2015

Severe fetal brain dysgenesis with focal calcification.

scientific article published on May 2005

Spinocerebellar ataxia type 15

scientific article published on 01 January 2012

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

scientific article

Spinocerebellar ataxia type 15.

scientific article

Spinocerebellar ataxia type 20

scientific article published on January 1, 2012

Spinocerebellar ataxia type 20.

scientific article published in January 2005

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

scientific article

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

scientific article published on 20 February 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

Paulina is supported by:

About Paulina

Help