A. Gedeon

发表

Explanation for exclusive maternal origin for congenital form of myotonic dystrophy

A. Donnelly, J. Mulley, G. Sutherland, 1993, The Lancet.

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

F. Tamanini, M. Gulisano, B. Oostra, 1998, Nature Genetics.

Abnormal expression of the KLF8 (ZNF741) gene in a female patient with an X;autosome translocation t(X;21)(p11.2;q22.3) and non-syndromic mental retardation

J. Gécz, M. Mattéi, C. Schwartz, 2002, Journal of medical genetics.

Principal mutation hotspot for central core disease and related myopathies in the C-terminal transmembrane region of the RYR1 gene

E. Haan, F. Muntoni, N. Laing, 2003, Neuromuscular Disorders.

retardation2.3) and non-syndromic mental a female patient with an X;autosome translocation ) gene in ZNF741 ( KLF8 Abnormal expression of the

J. Gécz, C. Schwartz, M. Mattei, 2008 .

Erratum: Mutations in GDI1 are responsible for X-linked non-specific mental retardation (Nature Genetics (1998) 19 (134-139))

F. Tamanini, M. Gulisano, B. Oostra, 1998 .

How many X-linked genes for non-specific mental retardation (MRX) are there?

A. Donnelly, J. Mulley, G. Turner, 1996, American journal of medical genetics.

X chromosome inactivation in carriers of Barth syndrome.

D. Toniolo, A. Naumova, P. Barth, 1998, American journal of human genetics.

Localization of non-specific X-linked mental retardation genes.

J. Mulley, G. Turner, B. Kerr, 1992, American journal of medical genetics.

X-linked mental retardation with heterozygous expression and macrocephaly: pericentromeric gene localization.

J. Mulley, G. Turner, A. Gedeon, 1994, American journal of medical genetics.

Börjeson-Forssman-Lehmann syndrome: clinical manifestations and gene localization to Xq26-27.

G. Sutherland, J. Mulley, G. Turner, 1989, American journal of medical genetics.

Presymptomatic testing for myotonic dystrophy by means of the linked DNA marker APOC2

E. Haan, G. Sutherland, J. Mulley, 1988, The Medical journal of Australia.

Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda

J. Gécz, D. Sillence, J. Mulley, 1999, Nature Genetics.

Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda.

J. Gécz, J. Mulley, T. Cox, 2000, Genomics.

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy

I. Scheffer, M. Shaw, J. Gécz, 2002, Nature Genetics.

New X-linked syndrome of mental retardation, gynecomastia, and obesity is linked to DXS255.

J. Mulley, G. Turner, M. Wilson, 1991, American journal of medical genetics.

SEDL (SEDT) Gene

J. Gécz, A. Gedeon, 2002 .

A recurrent RNA-splicing mutation in the SEDL gene causes X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, J. Haines, L. Carrel, 2001, American journal of human genetics.

Mutations in PHF6 are associated with Börjeson–Forssman–Lehmann syndrome

M. Shaw, J. Gécz, J. Clayton-Smith, 2002, Nature Genetics.

Refinement of the background genetic map of Xq26-q27 and gene localisation for Börjeson-Forssman-Lehmann Syndrome.

D. Schlessinger, J. Mulley, G. Turner, 1996, American journal of medical genetics.

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome Published, JLR Papers in Press, July 27, 2006.

D. Thorburn, J. Pitt, A. Gedeon, 2006, Journal of Lipid Research.

Mutations in GDI1 are responsible for X-linked non-specific mental retardation

Andrea Menegon, Flavia Valtorta, Marina Grasso, 1998, Nature Genetics.

A novel X-linked gene, G4.5. is responsible for Barth syndrome

E. Maestrini, S. Bione, D. Toniolo, 1996, Nature Genetics.

The X-linked gene G4.5 is responsible for different infantile dilated cardiomyopathies.

E. Haan, A. Green, S. Bione, 1997, American journal of human genetics.

Gene localization for oral-facial-digital syndrome type 1 (OFD1:MIM 311200) proximal to DXS85.

J. Mulley, G. Turner, C. Oley, 1999, American journal of medical genetics.

Identification of the gene FMR2, associated with FRAXE mental retardation

J. Gécz, J. Mulley, A. Gedeon, 1996, Nature Genetics.

X-linked mental retardation with dystonic movements of the hands (PRTS): revisited.

J. Mulley, A. Gedeon, M. Partington, 1994, American journal of medical genetics.

The Coexistence of IgA Deficiency and 21‐Hydroxylase Deficiency Marked by Specific MHC Supratypes

J. McCluskey, F. Christiansen, A. Wilton, 1985, Annals of the New York Academy of Sciences.

Pericentromeric genes for non-specific X-linked mental retardation (MRX).

J. Mulley, G. Turner, B. Kerr, 1994, American journal of medical genetics.

Syndromic form of X‐linked mental retardation with marked hypotonia in early life, severe mental handicap, and difficult adult behavior maps to Xp22

J. Mulley, M. Partington, G. Turner, 2003, American journal of medical genetics. Part A.

Localisation of the MRX3 gene for non-specific X linked mental retardation.

J. Mulley, G. Turner, B. Kerr, 1991, Journal of medical genetics.

Non-specific X linked mental retardation.

J. Mulley, M. Partington, G. Turner, 1991, Journal of medical genetics.

Gene localisation for Wilson-Turner syndrome (WTS:MIM 309585)

J. Mulley, G. Turner, A. Gedeon, 1996, American journal of medical genetics.

Overlapping submicroscopic deletions in Xq28 in two unrelated boys with developmental disorders: identification of a gene near FRAXE.

J. Gécz, G. Sutherland, J. Mulley, 1995, American journal of human genetics.

X‐linked mild non‐syndromic mental retardation with neuropsychiatric problems and the missense mutation A365E in PAK3

J. Gécz, J. Mulley, J. Nelson, 2003, American journal of medical genetics. Part A.

Fragile-X syndrome: unique genetics of the heritable unstable element.

D. Loesch, R. Richards, S. Yu, 1992, American journal of human genetics.

Predictive diagnosis for polycystic kidney disease using DNA markers

E. Haan, J. Mulley, A. Gedeon, 1990, The Medical journal of Australia.

Vertebrate genome evolution and the zebrafish gene map

Margaret R. Thomson, J. Lupski, A. Force, 1998, Nature Genetics.

Genotype-phenotype relationships in fragile X syndrome: a family study.

D. Loesch, G. Sutherland, J. Mulley, 1993, American journal of human genetics.

Barth syndrome: clinical features and confirmation of gene localisation to distal Xq28.

D. Sillence, J. Mulley, L. Adès, 1993, American journal of medical genetics.

A linkage map of microsatellite markers on the human X chromosome.

R. Richards, G. Sutherland, A. Donnelly, 1994, Genomics.

X linked fatal infantile cardiomyopathy maps to Xq28 and is possibly allelic to Barth syndrome.

D. Sillence, J. Mulley, Meredith Wilson, 1995, Journal of medical genetics.

X chromosome inactivation in carriers of Barth syndrome.

K. Ørstavik, R. Ørstavik, A. Gedeon, 1998, American journal of human genetics.

FRAXE and mental retardation.

D. Loesch, S. Yu, A. Donnelly, 1995, Journal of medical genetics.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, A. Munnich, S. Robertson, 2001, American journal of human genetics.

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers.

E. Haan, J. Mulley, S. White, 1991, Journal of medical genetics.