R.J. McKinlay Gardner : rechercher sur Z-Library

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1

A novel splice site mutation in EYA4 causes DFNA10 hearing loss

Michael S. Hildebrand, David Coman, Tao Yang, R.J. McKinlay Gardner, Elizabeth Rose, Richard J.H. Smith, Melanie Bahlo, Hans-Henrik M. Dahl

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 167 KB

english, 2007

2

Molecular consequences of dominant Bethlem myopathy collagen VI mutations

Naomi L. Baker, Matthias Mörgelin, Rishika A. Pace, Rachel A. Peat, Naomi E. Adams, R. J. McKinlay Gardner, Lewis P. Rowland, Geoffrey Miller, Peter De Jonghe, Berten Ceulemans, Mark C. Hannibal, Matt

Journal:

Annals of Neurology

Année:

2007

Langue:

english

Fichier:

PDF, 479 KB

english, 2007

3

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

Elena Andreucci, Salim Aftimos, Melanie Alcausin, Eric Haan, Warwick Hunter, Peter Kannu, Bronwyn Kerr, George McGillivray, RJ McKinlay Gardner, Maria G Patricelli, David Sillence, Elizabeth Thompson,

Journal:

Orphanet Journal of Rare Diseases

Année:

2011

Langue:

english

Fichier:

PDF, 1.45 MB

english, 2011

4

Profuse familial adenomatous polyposis with an Adenomatous Polyposis Coli exon 3 mutation

Steven Nasioulas, Ian T. Jones, D. James B. St. John, Rodney J. Scott, Susan M. Forrest, R. J. McKinlay Gardner

Journal:

Familial Cancer

Année:

2001

Langue:

english

Fichier:

PDF, 37 KB

english, 2001

5

E-cadherin unlikely to be a common ?low penetrance? gene for colorectal cancer

Gardner, R.J. McKinlay, Gaff, Clara L., Macrae, Finlay A., St. John, D. James B., Hopkins, Justin, Guilford, Parry J., Reeve, Anthony E.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 68 KB

english, 1999

6

What's in a name?

Gardner, R.J. McKinlay

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 21 KB

english, 1999

7

Clinical and genetic study of Friedreich ataxia in an Australian population

Delatycki, Martin B., Paris, Damien B.B.P., Gardner, R.J. McKinlay, Nicholson, Garth A., Nassif, Najah, Storey, Elsdon, MacMillan, John C., Collins, Veronica, Williamson, Robert, Forrest, Susan M.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 90 KB

english, 1999

8

Trisomy 13 mosaicism at prenatal diagnosis: dilemmas in interpretation

Martin B. Delatycki, Mark D. Pertile, R. J. McKinlay Gardner

Journal:

Prenatal Diagnosis

Année:

1998

Langue:

english

Fichier:

PDF, 39 KB

english, 1998

9

New variant of familial cerebellar ataxia with hypergonadotropic hypogonadism and sensorineural deafness

David J. Amor, Martin B. Delatycki, R.J. McKinlay Gardner, Elsdon Storey

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 134 KB

english, 2001

10

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

Melanie A. Knight, Elsdon Storey, R.J. McKinlay Gardner, Peter Hand, Susan M. Forrest

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 13 KB

english, 2000

11

Familial digital arthropathy-brachydactyly

David J. Amor, Coral Tudball, R.J. McKinlay Gardner, Shireen R. Lamandé, John F. Bateman, Ravi Savarirayan

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 219 KB

english, 2002

12

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

Anita Vinton, Michael C. Fahey, Terence J. O'Brien, Janet Shaw, Elsdon Storey, R.J. McKinlay Gardner, Peter J. Mitchell, Desirée Du Sart, John O. King

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 109 KB

english, 2005

13

Clinical features of a large Australian pedigree with episodic ataxia type 1

Peter J. Hand, R.J. McKinlay Gardner, Melanie A. Knight, Susan M. Forrest, Elsdon Storey

Journal:

Movement Disorders

Année:

2001

Langue:

english

Fichier:

PDF, 13 KB

english, 2001

14

Chromosomal Abnormalities and Epilepsy: A Review for Clinicians and Gene Hunters

Rita Singh, R. J. McKinlay Gardner, Kathryn M. Crossland, Ingrid E. Scheffer, Samuel F. Berkovic

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 322 KB

english, 2002

15

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

Birgitt Schüle, Mohammed Albalwi, Emma Northrop, David I Francis, Margaret Rowell, Howard R Slater, RJ McKinlay Gardner, Uta Francke

Journal:

BMC Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 3.23 MB

english, 2005

16

Severe fetal brain dysgenesis with focal calcification

R. J. McKinlay Gardner, C. W. Chow, Ian Simpson, A. Michelle Fink, Simon E. Meagher, Susan M. White

Journal:

Prenatal Diagnosis

Année:

2005

Langue:

english

Fichier:

PDF, 116 KB

english, 2005

17

Prenatal diagnosis of Sjögren-Larsson syndrome using enzymatic methods

Dr William B. Rizzo, Debra A. Craft, Todd L. Kelson, Jean-Paul Bonnefont, Jean-Marie Saudubray, Joseph D. Schulman, Susan H. Black, Khalil Tabsh, Maja Dirocco, R. J. McKinlay Gardner

Journal:

Prenatal Diagnosis

Année:

1994

Langue:

english

Fichier:

PDF, 396 KB

english, 1994

18

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

Susan Clement Wilson, Marleen Susman, Sharon Bain, Monica Wohlferd, Daniel L. Van Dyke, Art Daniel, Beverly White, R. J. McKinlay Gardner

Journal:

Prenatal Diagnosis

Année:

2002

Langue:

english

Fichier:

PDF, 56 KB

english, 2002

19

High frequency hearing loss correlated with mutations in theGJB2gene

Stephen A Wilcox, Kerryn Saunders, Amelia H Osborn, Angela Arnold, Julia Wunderlich, Therese Kelly, Veronica Collins, Leah J Wilcox, RJ McKinlay Gardner, Maria Kamarinos, Barbara Cone-Wesson, Robert W

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 61 KB

english, 2000

20

Friedreich's ataxia presenting as adult-onset spastic paraparesis

Peter C. Gates, Damien Paris, Susan M. Forrest, Robert Williamson, R. J. McKinlay Gardner

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 137 KB

english, 1998

21

Deletions Revealing Recessive Genes: Deletions that reveal recessive genes

Gardner, RJ McKinlay, Coman, David J

Journal:

European Journal of Human Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 58 KB

english, 2007

22

Cochlear Implants for DFNA17 Deafness

Michael S. Hildebrand, Michelle G. de Silva, R. J. McKinlay Gardner, Elizabeth Rose, Carolyn A. de Graaf, Melanie Bahlo, Hans-Henrik M. Dahl

Journal:

The Laryngoscope

Année:

2006

Langue:

english

Fichier:

PDF, 427 KB

english, 2006

23

Spinocerebellar ataxia type 20

Elsdon Storey, Melanie A. Knight, Susan M. Forrest, R. J. Mckinlay Gardner

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 300 KB

english, 2005

24

Spinocerebellar ataxia type 15

R. J. Mckinlay Gardner, Melanie A. Knight, Kenju Hara, Shoji Tsuji, Susan M. Forrest, Elsdon Storey

Journal:

Année:

2005

Langue:

english

Fichier:

PDF, 227 KB

english, 2005

25

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

George McGillivray, Jill A Rosenfeld, R. J. McKinlay Gardner, Lynn H. Gillam

Journal:

Prenatal Diagnosis

Année:

2012

Langue:

english

Fichier:

PDF, 110 KB

english, 2012

26

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)

David Coman, Joy Yaplito-Lee, Phung La, Steven Nasioulas, Damien Bruno, Howard R. Slater, Sharyn E. Stock-Myer, Elly L. Lynch, R.J. McKinlay Gardner

Journal:

Molecular Genetics and Metabolism

Année:

2010

Langue:

english

Fichier:

PDF, 110 KB

english, 2010

27

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

Melanie A Knight, Marina L Kennerson, Richard J Anney, Tohru Matsuura, Garth A Nicholson, Peyman Salimi-Tari, R.J.McKinlay Gardner, Elsdon Storey, Susan M Forrest

Journal:

Neurobiology of Disease

Année:

2003

Langue:

english

Fichier:

PDF, 175 KB

english, 2003

28

A4T Mutation in the SOD1 Gene Causing Familial Amyotrophic Lateral Sclerosis

Aksoy, Hatice, Dean, Geoffrey, Elian, Marta, Deng, H.X., Deng, Gang, Juneja, Tony, Storey, Elsdon, McKinlay Gardner, R.J., Jacob, Rebecca L., Laing, Nigel G., Siddique, Teepu

Journal:

Neuroepidemiology

Année:

2003

Langue:

english

Fichier:

PDF, 157 KB

english, 2003

29

Development of a Multiplex Ligation-Dependent Probe Amplification Assay for Diagnosis and Estimation of the Frequency of Spinocerebellar Ataxia Type 15

Ganesamoorthy, D., Bruno, D. L., Schoumans, J., Storey, E., Delatycki, M. B., Zhu, D., Wei, M. K., Nicholson, G. A., McKinlay Gardner, R.J., Slater, H. R.

Journal:

Clinical Chemistry

Année:

2009

Langue:

english

Fichier:

PDF, 282 KB

english, 2009

30

No evidence of RET germline mutations in familial pituitary adenoma

Heliovaara, E., Tuupanen, S., Ahlsten, M., Hodgson, S., de Menis, E., Kuismin, O., Izatt, L., McKinlay Gardner, R. J., Gundogdu, S., Lucassen, A., Arola, J., Tuomisto, A., Makinen, M., Karhu, A., Aalt

Journal:

Journal of Molecular Endocrinology

Année:

2011

Langue:

english

Fichier:

PDF, 290 KB

english, 2011

31

Congenital mirror movements: Phenotypes associated with DCC and RAD51 mutations

Franz, Elizabeth A., Chiaroni-Clarke, Rachel, Woodrow, Stephanie, Glendining, Kelly A., Jasoni, Christine L., Robertson, Stephen P., Gardner, R.J. McKinlay, Markie, David

Journal:

Journal of the Neurological Sciences

Année:

2015

Langue:

english

Fichier:

PDF, 453 KB

english, 2015

32

Paternally Inherited Inactivating Mutations of the GNAS1 Gene in Progressive Osseous Heteroplasia

Shore, Eileen M., Ahn, Jaimo, de Beur, Suzanne Jan, Li, Ming, Xu, Meiqi, Gardner, R.J. McKinlay, Zasloff, Michael A., Whyte, Michael P., Levine, Michael A., Kaplan, Frederick S.

Journal:

Boston Medical and Surgical Journal

Année:

2002

Langue:

english

Fichier:

PDF, 270 KB

english, 2002

33

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

Li, L., Moore, P., Ngo, C., Petrovic, V., White, S.M., Northrop, E., Ioannou, P.A., McKinlay Gardner, R.J., Slater, H.R.

Journal:

Cytogenetic and Genome Research

Année:

2002

Langue:

english

Fichier:

PDF, 113 KB

english, 2002

34

Diagnostic Genetics at a Distance: Von Hippel-Lindau Disease and a Novel Mutation

Brookes, Clare, Prosser, Debra O., Love, Jennifer M., Gardner, R. J. McKinlay, Love, Donald R.

Journal:

Genetics Research International

Année:

2013

Langue:

english

Fichier:

PDF, 670 KB

english, 2013

35

Periventricular Heterotopia in Common Microdeletion Syndromes

van Kogelenberg, M., Ghedia, S., McGillivray, G., Bruno, D., Leventer, R., MacDermot, K., Nelson, J., Nagarajan, L., Veltman, J.A., de Brouwer, A.P., McKinlay Gardner, R.J., van Bokhoven, H., Kirk, E.

Journal:

Molecular Syndromology

Année:

2010

Langue:

english

Fichier:

PDF, 1.57 MB

english, 2010

36

Chromosomes and clinical anatomy

Gardner, Robert James McKinlay

Journal:

Clinical Anatomy

Année:

2016

Langue:

english

Fichier:

PDF, 452 KB

english, 2016

37

MURCS and thenar hypoplasia

Gardner, R. J. McKinlay, Umstad, Mark P., Hale, Lyndon G.

Journal:

Clinical Dysmorphology

Année:

2007

Langue:

english

Fichier:

PDF, 84 KB

english, 2007

38

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

Gardner, R. J. McKinlay, Crozier, Ian G., Binfield, Alex L., Love, Donald R., Lehnert, Klaus, Gibson, Kate, Lintott, Caroline J., Snell, Russell G., Jacobsen, Jessie C., Jones, Peter P., Waddell-Smith

Journal:

Molecular Genetics & Genomic Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 3.20 MB

english, 2018