No photo of Agi Gedeon
  • The University of Western Australia (M358), 35 Stirling Highway,

    6009 Perth

    Australia

  • The University of Western Australia (M429), 35 Stirling Highway,

    6009 Perth

    Australia

  • 3570 Citations
  • 30 h-Index
1985 …2017
If you made any changes in Pure these will be visible here soon.

Research Output 1985 2017

Filter
Article
2006
29 Citations (Scopus)

Monolysocardiolipin in cultured fibroblasts is a sensitive and specific marker for Barth Syndrome

Van Werkhoven, M. A., Thorburn, D. R., Gedeon, A. K. & Pitt, J. J., 1 Oct 2006, In : Journal of Lipid Research. 47, 10, p. 2346-2351 6 p.

Research output: Contribution to journalArticle

Barth Syndrome
Cardiolipins
Fibroblasts
Metabolism
Skin
2003
92 Citations (Scopus)

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

Davis, M. R., Haan, E., Jungbluth, H., Sewry, C., North, K., Muntoni, F., Kuntzer, T., Lamont, P., Bankier, A., Tomlinson, P., Sanchez, A., Walsh, P., Nagarajan, L., Oley, C., Colley, A., Gedeon, A., Quinlivan, R., Dixon, J., James, D., Muller, C. R. & 1 othersLaing, N., 2003, In : Neuromuscular Disorders. 13, 2, p. 151-157

Research output: Contribution to journalArticle

Central Core Myopathy
Muscular Diseases
Mutation
Nemaline Myopathies
Myotonia Congenita
13 Citations (Scopus)

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

Turner, G., Gedeon, A., Kerr, B., Bennett, R., Mulley, J. & Partington, M., 15 Mar 2003, In : Am J Med Genet A. 117A, 3, p. 245-50 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Genes
Lod Score
Chin
Mutation
48 Citations (Scopus)

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

Gedeon, A. K., Nelson, J., Gécz, J. & Mulley, J. C., 1 Aug 2003, In : Am J Med Genet A. 120A, 4, p. 509-17 9 p.

Research output: Contribution to journalArticle

Missense Mutation
Intellectual Disability
X-Linked Mental Retardation
Lod Score
X-Linked Genes
2002
140 Citations (Scopus)

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

Lower, K. M., Turner, G., Kerr, B. A., Mathews, K. D., Shaw, M. A., Gedeon, A. K., Schelley, S., Hoyme, H. E., White, S. M., Delatycki, M. B., Lampe, A. K., Clayton-Smith, J., Stewart, H., van Ravenswaay, C. M. A., de Vries, B. B. A., Cox, B., Grompe, M., Ross, S., Thomas, P., Mulley, J. C. & 1 othersGécz, J., Dec 2002, In : Nature Genetics. 32, 4, p. 661-5 5 p.

Research output: Contribution to journalArticle

Zinc Fingers
Mutation
Genes
Genetic Databases
Gynecomastia
351 Citations (Scopus)

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

Strømme, P., Mangelsdorf, M. E., Shaw, M. A., Lower, K. M., Lewis, S. M. E., Bruyere, H., Lütcherath, V., Gedeon, Á. K., Wallace, R. H., Scheffer, I. E., Turner, G., Partington, M., Frints, S. G. M., Fryns, J. P., Sutherland, G. R., Mulley, J. C. & Gécz, J., 1 Jan 2002, In : Nature Genetics. 30, 4, p. 441-445 5 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Epilepsy
Mutation
Intellectual Disability
Chromosomes, Human, X
2001
38 Citations (Scopus)

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

Tiller, G. E., Hannig, V. L., Dozier, D., Carrel, L., Trevarthen, K. C., Wilcox, W. R., Mundlos, S., Haines, J. L., Gedeon, A. K. & Gecz, J., 1 Jan 2001, In : American Journal of Human Genetics. 68, 6, p. 1398-1407 10 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
RNA Splicing
Mutation
Genes
RNA Splice Sites
72 Citations (Scopus)

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda

Gedeon, A. K., Tiller, G. E., Le Merrer, M., Tranebjaerg, L., Chitayat, D., Robertson, S., Glass, I. A., Savarirayan, R., Cole, W. G., Rimoin, D. L., Kousseff, B. G., Zabel, B., Munnich, A., Gecz, J. & Mulley, J. C., 1 Jan 2001, In : American Journal of Human Genetics. 68, 6, p. 1386-1397 12 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
Mutation
Exons
INDEL Mutation
Genes
2000
44 Citations (Scopus)

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

Gécz, J., Hillman, M. A., Gedeon, A. K., Cox, T. C., Baker, E. & Mulley, J. C., 15 Oct 2000, In : Genomics. 69, 2, p. 242-251 10 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
Gene Expression
Genes
Exons
Pseudogenes
1999
145 Citations (Scopus)

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

Gedeon, Á. K., Colley, A., Jamieson, R., Thompson, E. M., Rogers, J., Sillence, D., Tiller, G. E., Mulley, J. C. & Gécz, J., 1 Aug 1999, In : Nature Genetics. 22, 4, p. 400-404 5 p.

Research output: Contribution to journalArticle

Osteochondrodysplasias
Genes
Nonsense Codon
Osteoarthritis
Endoplasmic Reticulum
1998
275 Citations (Scopus)

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

D'Adamo, P., Menegon, A., Nigro, C. L., Grasso, M., Gulisano, M., Tamanini, F., Bienvenu, T., Gedeon, A. K., Oostra, B., Wu, S. K., Tandon, A., Valtorta, F., Balch, W. E., Chelly, J. & Toniolo, D., 11 Jun 1998, In : Nature Genetics. 19, 2, p. 134-139 6 p.

Research output: Contribution to journalArticle

Intellectual Disability
Guanine Nucleotide Dissociation Inhibitors
Mutation
Aptitude
Recycling
55 Citations (Scopus)

X chromosome inactivation in carriers of Barth syndrome

Ørstavik, K. H., Ørstavik, R. E., Naumova, A. K., D'Adamo, P., Gedeon, A., Bolhuis, P. A., Barth, P. G. & Toniolo, D., 1 Jan 1998, In : American Journal of Human Genetics. 63, 5, p. 1457-1463 7 p.

Research output: Contribution to journalArticle

Barth Syndrome
X Chromosome Inactivation
X Chromosome
Phenotype
Mutation
1997
187 Citations (Scopus)

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

D'Adamo, P., Fassone, L., Gedeon, A., Janssen, E. A. M., Bione, S., Bolhuis, P. A., Barth, P. G., Wilson, M., Haan, E., Örstavik, K. H., Patton, M. A., Green, A. J., Zammarchi, E., Donati, M. A. & Toniolo, D., 1 Jan 1997, In : American Journal of Human Genetics. 61, 4, p. 862-867 6 p.

Research output: Contribution to journalArticle

Open Access
Barth Syndrome
X-Linked Genes
Dilated Cardiomyopathy
Genetic Databases
Genes
1996
504 Citations (Scopus)

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

Bione, S., D'Adamo, P., Maestrini, E., Gedeon, A. K., Bolhuis, P. A. & Toniolo, D., 1 Apr 1996, In : Nature Genetics. 12, 4, p. 385-389 5 p.

Research output: Contribution to journalArticle

Barth Syndrome
X-Linked Genes
Mutation
Genetic Loci
Terminator Codon
24 Citations (Scopus)

Genetic localisation of MRX27 to Xq24-26 defines another discrete gene for non-specific X-linked mental retardation

Gedeon, A. K., Glass, I. A., Connor, J. M. & Mulley, J. C., 12 Jul 1996, In : American Journal of Medical Genetics. 64, 1, p. 121-124 4 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Lod Score
X Chromosome
Microsatellite Repeats
Genetic Recombination
235 Citations (Scopus)

Identification of the gene FMR2, associated with FRAXE mental retardation

Gecz, J., Gedeon, A. K., Sutherland, G. R. & Mulley, J. C., 1 Jan 1996, In : Nature Genetics. 13, 1, p. 105-108 4 p.

Research output: Contribution to journalArticle

CpG Islands
Intellectual Disability
Folic Acid
Genes
Cytogenetics
13 Citations (Scopus)

Refinement of the Background Genetic Map of Xq26-q27 and Gene Localisation for Börjeson-Forssman-Lehmann Syndrome

Gedeon, A. K., Kozman, H. M., Robinson, H., Pilia, G., Schlessinger, D., Turner, G. & Mulley, J. C., 1 Jan 1996, In : American Journal of Medical Genetics - Seminars in Medical Genetics. 64, 1, p. 63-68 6 p.

Research output: Contribution to journalArticle

Genes
Genetic Markers
Genetic Recombination
Foot
X-Linked Mental Retardation
1995
68 Citations (Scopus)

FRAXE and mental retardation

Mulley, J. C., Yu, S., Loesch, D. Z., Hay, D. A., Donnelly, A., Gedeon, A. K., Carbonell, P., Lopez, I., Glover, G., Gabarron, I., Yu, P. W. L., Baker, E., Haan, E. A., Hockey, A., Knight, S. J. L., Davies, K. E., Richards, R. I. & Sutherland, G. R., 1 Jan 1995, In : Journal of Medical Genetics. 32, 3, p. 162-169 8 p.

Research output: Contribution to journalArticle

Intellectual Disability
Cytogenetics

OVERLAPPING SUBMICROSCOPIC DELETIONS IN XQ28 IN 2 UNRELATED BOYS WITH DEVELOPMENTAL DISORDERS - IDENTIFICATION OF A GENE NEAR FRAXE

GEDEON, AK., KEINANEN, M., ADES, LC., KAARIAINEN, H., GECZ, J., BAKER, E., SUTHERLAND, GR. & MULLEY, JC., Apr 1995, In : American Journal of Human Genetics. 56, 4, p. 907-914 8 p.

Research output: Contribution to journalArticle

38 Citations (Scopus)

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

Gedeon, A. K., Keinanen, M., Ades, L. C., Kaariainen, H., Gecz, J., Baker, E., Sutherland, G. R. & Mulley, J. C., 1 Jan 1995, In : American Journal of Human Genetics. 56, 4, p. 907-914 8 p.

Research output: Contribution to journalArticle

Language Development Disorders
Fragile X Syndrome
Dinucleotide Repeats
Language Development
Placenta
46 Citations (Scopus)

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

Gedeon, A. K., Wilson, M. J., Colley, A. C., Sillence, D. O. & Mulley, J. C., 1 Jan 1995, In : Journal of Medical Genetics. 32, 5, p. 383-388 6 p.

Research output: Contribution to journalArticle

Barth Syndrome
Cardiomyopathies
Dilated Cardiomyopathy
Genes
Dinucleotide Repeats
1994
27 Citations (Scopus)

A linkage map of microsatellite markers on the human X chromosome

Donnelly, A., Kozman, H., Gedeon, A. K., Webb, S., Lynch, M., Sutherland, G. R., Richards, R. I. & Mulley, J. C., 1 Jan 1994, In : Genomics. 20, 3, p. 363-370 8 p.

Research output: Contribution to journalArticle

Chromosomes, Human, X
Microsatellite Repeats
Polymerase Chain Reaction
Hemizygote
Bacteriophage lambda
14 Citations (Scopus)

Localisation of the gene for X-linked reticulate pigmentary disorder with systemic manifestations (PDR), previously known as X-linked cutaneous amyloidosis

Gedeon, A. K., Mulley, J. C., Kozman, H., Donnelly, A. & Partington, M. W., 1 Aug 1994, In : American Journal of Medical Genetics. 52, 1, p. 75-78 4 p.

Research output: Contribution to journalArticle

X-Linked Genes
Amyloidosis
Skin Pigmentation
Lod Score
Failure to Thrive
21 Citations (Scopus)

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

Gedeon, A., Kerr, B., Mulley, J. & Turner, G., 11 Jul 1994, In : American Journal of Medical Genetics. 51, 4, p. 553-564 12 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Genes
Lod Score
Trinucleotide Repeats
Centromere
21 Citations (Scopus)

Regional localisation of a non-specific X-linked mental retardation gene (MRX19) to Xp22

Donnelly, A. J., Choo, K. H. A., Kozman, H. M., Gedeon, A. K., Danks, D. M. & Mulley, J. C., 15 Jul 1994, In : American Journal of Medical Genetics. 51, 4, p. 581-585 5 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Genetic Recombination
Coffin-Lowry Syndrome
Lod Score
X Chromosome
13 Citations (Scopus)

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

Gedeon, A., Partington, M. & Mulley, J., 11 Jul 1994, In : American Journal of Medical Genetics. 51, 4, p. 565-568 4 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Lod Score
Hand
Genes
Dinucleotide Repeats
14 Citations (Scopus)

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

Turner, G., Gedeon, A. & Mulley, J., 11 Jul 1994, In : American Journal of Medical Genetics. 51, 4, p. 575-580 6 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Megalencephaly
Lod Score
Viverridae
Genetic Recombination
1993
79 Citations (Scopus)

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

Ades, L. C., Gedeon, A. K., Wilson, M. J., Latham, M., Partington, M. W., Mulley, J. C., Nelson, J., Lui, K. & Sillence, D. O., 2 Feb 1993, In : American Journal of Medical Genetics. 45, 3, p. 327-334 8 p.

Research output: Contribution to journalArticle

Barth Syndrome
Genes
Endocardial Fibroelastosis
Genetic Heterogeneity
Dilated Cardiomyopathy
12 Citations (Scopus)

Direct molecular diagnosis of myotonic dystrophy

Hecht, B. K., Donnelly, A., Gedeon, A. K., Byard, R. W., Haan, E. A. & Mulley, J. G., 1 Jan 1993, In : Clinical Genetics. 43, 6, p. 276-285 10 p.

Research output: Contribution to journalArticle

Viverridae
Myotonic Dystrophy
60 Citations (Scopus)

Genotype-phenotype relationships in fragile X syndrome: A family study

Loesch, D. Z., Huggins, R., Hay, D. A., Gedeon, A. K., Mulley, J. C. & Sutherland, G. R., 1 Jan 1993, In : American Journal of Human Genetics. 53, 5, p. 1064-1073 10 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Pedigree
Genotype
Language Tests
Phenotype
42 Citations (Scopus)

Refined genetic localization for central core disease

Mulley, J. C., Kozman, H. M., Phillips, H. A., Gedeon, A. K., McCure, J. A., Iles, D. E., Gregg, R. G., Hogan, K., Couch, F. J., MacLennan, D. H. & Haan, E. A., 1 Jan 1993, In : American Journal of Human Genetics. 52, 2, p. 398-405 8 p.

Research output: Contribution to journalArticle

Central Core Myopathy
Lod Score
Genetic Recombination
Malignant Hyperthermia
Ryanodine Receptor Calcium Release Channel
1992
14 Citations (Scopus)

Characterization of new PCR based markers for mapping and diagnosis: AC dinucleotide repeat markers at the DXS237 (GMGX9) and DXS102 (cX38.1) loci

Gedeon, A. K., Holman, K., Richards, R. I. & Mulley, J. C., 1 Jun 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 255-260 6 p.

Research output: Contribution to journalArticle

Dinucleotide Repeats
X Chromosome
Polymerase Chain Reaction
DNA Probes
34 Citations (Scopus)

Experience with direct molecular diagnosis of fragile X

Mulley, J. C., Yu, S., Gedeon, A. K., Donnelly, A., Turner, G., Loesch, D., Chapman, C. J., Gardner, R. J. M., Richards, R. I. & Sutherland, G. R., 1 Jan 1992, In : Journal of Medical Genetics. 29, 6, p. 368-374 7 p.

Research output: Contribution to journalArticle

X Chromosome
Cytogenetics
Fragile X Syndrome
Molecular Probes
DNA
159 Citations (Scopus)

Fragile-X syndrome: Unique genetics of the heritable unstable element

Yu, S., Mulley, J., Loesch, D., Turner, G., Donnelly, A., Gedeon, A., Hillen, D., Kremer, E., Lynch, M., Pritchard, M., Sutherland, G. R. & Richards, R. I., 1 Jun 1992, In : American Journal of Human Genetics. 50, 5, p. 968-980 13 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Pedigree
Microsatellite Repeats
Genotype
Phenotype
155 Citations (Scopus)

Fragile X syndrome without CCG amplification has an FMR1 deletion

Gedeon, A. K., Baker, E., Robinson, H., Partington, M. W., Gross, B., Manca, A., Korn, B., Poustka, A., Yu, S., Sutherland, G. R. & Mulley, J. C., 1 Jan 1992, In : Nature Genetics. 1, 5, p. 341-344 4 p.

Research output: Contribution to journalArticle

Fragile X Syndrome
Cytogenetics
Trinucleotide Repeats
Mothers
Phenotype
29 Citations (Scopus)

Localization of non-specific X-linked mental retardation genes

Kerr, B., Gedeon, A., Mulley, J. & Turner, G., 1 Jun 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 392-401 10 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Genes
Dystrophin
Low Birth Weight Infant
Heterozygote
1 Citation (Scopus)

Use of linkage data obtained in single families: Prenatal diagnosis of a new X-linked mental retardation syndrome

Mulley, J. C., Gedeon, A. K., Wilson, S. & Haan, E. A., 1 Jun 1992, In : American Journal of Medical Genetics. 43, 1-2, p. 415-419 5 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Information Storage and Retrieval
Prenatal Diagnosis
Lod Score
Genes
5 Citations (Scopus)

X‐linked lymphoproliferative disease: prenatal detection of an unaffected histocompatible male

Mulley, J. C., Turner, A. M., Gedeon, A. K., Berdoukas, V. A., Huang, T. H. M., Ledbetter, D. H., Grierson, H. & Purtilo, D. T., 1 Jan 1992, In : Clinical Genetics. 42, 2, p. 76-79 4 p.

Research output: Contribution to journalArticle

Hypoxanthine Phosphoribosyltransferase
Fetus
Histocompatibility Testing
Restriction Fragment Length Polymorphisms
Biopsy
1991
7 Citations (Scopus)

Addition of MT, D16S10, D16S4, and D16S91 to the linkage map within 16q12.1-q22.1

Kozman, H. M., Gedeon, A. K., Whitmore, S., Suthers, G. K., Callen, D. F., Sutherland, G. R. & Mulley, J. C., 1 Jan 1991, In : Genomics. 11, 3, p. 756-759 4 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 16
Genetic Linkage
Walking
Organism Cloning
7 Citations (Scopus)

Dinucleotide repeat polymorphisms at the DXS294 and DXS300 loci in Xq26

Gedeon, A. K., Richards, R. I. & Mulley, J., 25 Sep 1991, In : Nucleic Acids Research. 19, 18, 1 p.

Research output: Contribution to journalArticle

32 Citations (Scopus)

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

Gedeon, A., Kerr, B., Mulley, J. & Turner, G., 18 Jun 1991, In : Journal of Medical Genetics. 28, 6, p. 372-377 6 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Genes
Lod Score
X Chromosome
X-Linked 3 Mental Retardation
41 Citations (Scopus)

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

Wilson, M., Mulley, J., Gedeon, A., Robinson, H. & Turner, G., 15 Sep 1991, In : American Journal of Medical Genetics. 40, 4, p. 406-413 8 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Gynecomastia
Centromere
Obesity
Lod Score
39 Citations (Scopus)

Non-specific X linked mental retardation

Kerr, B., Turner, G., Mulley, J., Gedeon, A. & Partington, M., 18 Jun 1991, In : Journal of Medical Genetics. 28, 6, p. 378-382 5 p.

Research output: Contribution to journalArticle

X-Linked Mental Retardation
Intellectual Disability
Hope
Genetic Heterogeneity
Pedigree
9 Citations (Scopus)

Predictive diagnosis of myotonic dystrophy with flanking microsatellite markers

Mulley, J., Gedeon, A. K., White, S. J., Haan, E. A. & Richards, R. I., 31 Jul 1991, In : Journal of Medical Genetics. 28, 7, p. 448-452 5 p.

Research output: Contribution to journalArticle

Myotonic Dystrophy
Microsatellite Repeats
Chromosomes, Human, Pair 19
Kallikreins
Gene Order
69 Citations (Scopus)

Prenatal diagnosis of fragile X syndrome by direct detection of the unstable DNA sequence

Sutherland, G. R., Gedeon, A., Donnelly, A., Mulley, J. C., Kremer, E., Lynch, M., Pritchard, M., yu, S., Richards, R. I., Byard, R. W. & Kornman, L., 12 Dec 1991, In : New England Journal of Medicine. 325, 24, p. 1720-1722 3 p.

Research output: Contribution to journalArticle

Unstable DNA Sequences
Cordocentesis
Chorionic Villi
Fragile X Syndrome
X Chromosome
1990
1 Citation (Scopus)

Predictive diagnosis for polycystic kidney disease using DNA markers

Mulley, J., Haan, E. A., Gedeon, A. K. & Sutherland, G. R., 1 Jan 1990, In : Medical Journal of Australia. 152, 6, p. 287-289 3 p.

Research output: Contribution to journalArticle

Polycystic Kidney Diseases
Genetic Markers
Genes
Autosomal Dominant Polycystic Kidney
Chromosomes, Human, Pair 16
1989
2 Citations (Scopus)

A linkage group with FRA16B (the fragile site at 16q22.1)

Mulley, J., Hyland, V. J., Fratini, A., Bates, L. J., Gedeon, A. K. & Sutherland, G. R., 1 May 1989, In : Human Genetics. 82, 2, p. 131-133 3 p.

Research output: Contribution to journalArticle

Genetic Markers
Genetic Recombination
stallimycin
40 Citations (Scopus)

Borjeson-Forssman-Lehmann syndrome: Clinical manifestations and gene localization to Xq26-27

Turner, G., Gedeon, A., Mulley, J., Sutherland, G., Rae, J., Power, K. & Arthur, I., 1 Dec 1989, In : American Journal of Medical Genetics. 34, 4, p. 463-469 7 p.

Research output: Contribution to journalArticle

Lod Score
Gynecomastia
Dwarfism
Microcephaly
X-Linked Genes
26 Citations (Scopus)

Mapping the short arm of human chromosome 16

Callen, D. F., Hyland, V. J., Baker, E. G., Fratini, A., Gedeon, A. K., Mulley, J., Fernandez, K. E. W., Breuning, M. H. & Sutherland, G. R., 1 Jan 1989, In : Genomics. 4, 3, p. 348-354 7 p.

Research output: Contribution to journalArticle

Chromosomes, Human, Pair 16
Human Chromosomes
Chromosomes
1988

Application of DNA probes to carrier detection and prenatal diagnosis of Duchenne (and Becker) muscular dystrophy

Mulley, J., Gedeon, A. K., Haan, E. A., Sheffield, L. J., White, S. J., Bates, L. J., Robertson, E. F. & Sutherland, G. R., 1 Jan 1988, In : Australian Paediatric Journal. 24, SUPPL. 1, p. 92-97 6 p.

Research output: Contribution to journalArticle

Duchenne Muscular Dystrophy
DNA Probes
Prenatal Diagnosis
Pedigree
South Australia