J. Gitschier

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Isolation of a candidate gene for Menkes disease and evidence that it encodes a copper–transporting ATPase

S. Packman, C. Vulpe, B. Levinson, 1993, Nature Genetics.

Characterization of the human factor VIII gene

E. Chen, D. Eaton, W. Wood, 1984, Nature.

Mutations and a polymorphism in the factor VIII gene discovered by denaturing gradient gel electrophoresis.

J. Gitschier, S. Kogan, 1990, Proceedings of the National Academy of Sciences of the United States of America.

Missense mutations causing mild hemophilia A in Iceland detected by denaturing gradient gel electrophoresis

B. Levinson, J. Gitschier, S. Jónsdóttir, 1992, Human mutation.

HARP syndrome is allelic with pantothenate kinase–associated neurodegeneration

J. Higgins, J. Gitschier, S. Westaway, 2002, Neurology.

Inversions disrupting the factor VIII gene are a common cause of severe haemophilia A

Stylianos E. Antonarakis, Haig H. Kazazian, D. Lakich, 1993, Nature Genetics.

Molecular etiology of factor VIII deficiency in hemophilia A.

S. Antonarakis, P. Hutter, J. Gitschier, 1995, Advances in experimental medicine and biology.

Genetic mapping and diagnosis of haemophilia A achieved through a BclI polymorphism in the factor VIII gene

J. Gitschier, Raymond White, R. Lawn, 1985, Nature.

An improved method for prenatal diagnosis of genetic diseases by analysis of amplified DNA sequences. Application to hemophilia A.

J. Gitschier, S. Kogan, M. Doherty, 1987, The New England journal of medicine.

S. Packman, C. Vulpe, B. Levinson, 1995, American journal of human genetics.

Sequence of the murine factor VIII cDNA.

D. Lakich, J. Gitschier, B. Elder, 1993, Genomics.

Deprivation of pantothenic acid elicits a movement disorder and azoospermia in a mouse model of pantothenate kinase-associated neurodegeneration

J. Gitschier, Y. Kuo, S. Hayflick, 2007, Journal of Inherited Metabolic Disease.

Neuro-ophthalmologic and electroretinographic findings in pantothenate kinase-associated neurodegeneration (formerly Hallervorden-Spatz syndrome).

Soma Das, R. Egan, P. Hogarth, 2005, American journal of ophthalmology.

A contiguous, 3-Mb physical map of Xq28 extending from the colorblindness locus to DXS15.

S. Kenwrick, J. Gitschier, 1989, American journal of human genetics.

Mutations of factor VIII cleavage sites in hemophilia A.

B. Levinson, J. Gitschier, S. Kogan, 1988, Blood.

An intronic region within the human factor VIII gene is duplicated within Xq28 and is homologous to the polymorphic locus DXS115 (767).

D. Schaid, S. Thibodeau, U. Froster-Iskenius, 1989, American journal of human genetics.

Neurodegeneration associated with genetic defects in phospholipase A2

E. Bertini, P. Hogarth, N. Nardocci, 2008, Neurology.

Brain MRI in neurodegeneration with brain iron accumulation with and without PANK2 mutations.

H. Rowley, J. Gitschier, J. Coryell, 2006, AJNR. American journal of neuroradiology.

ANTENATAL DIAGNOSIS AND CARRIER DETECTION OF HAEMOPHILIA A USING FACTOR VIII GENE PROBE

J. Gitschier, R. Lawn, F. Rotblat, 1985, The Lancet.

Mutations in the V2 vasopressin receptor gene are associated with X–linked nephrogenic diabetes insipidus

Soma Das, Soma Das, J. Gitschier, 1992, Nature Genetics.

The calcium-independent phospholipase A2 gene, PLA2G6, is mutated in a spectrum of childhood neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006 .

A transcribed gene in an intron of the human factor VIII gene.

D. Lakich, S. Kenwrick, B. Levinson, 1990, Genomics.

The Molecular Basis of Hemophilia A a

J. Gitschier, 1991, Annals of the New York Academy of Sciences.

Identification of a missense mutation in the factor VIII gene of a mild hemophiliac.

W. Wood, J. Gitschier, R. Lawn, 1986, Science.

Detection and sequence of mutations in the factor VIII gene of haemophiliacs

E. Chen, W. Wood, J. Gitschier, 1985, Nature.

Expression of active human factor VIII from recombinant DNA clones

B. Keyt, P. Seeburg, E. Delwart, 1984, Nature.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Bidichandani, J. Gitschier, 1994, Nucleic acids research.

Factor VIII gene inversions in severe hemophilia A: results of an international consortium study.

F E Preston, P G Mori, S S Sommer, 1995, Blood.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

E G Tuddenham, S. Antonarakis, D. Cooper, 1994, Nucleic acids research.

Factor VIII gene inversions causing severe hemophilia A originate almost exclusively in male germ cells.

D. Schaid, P. Hutter, H. Kazazian, 1994, Human molecular genetics.

Molecular analysis of hemophilia A mutations in the Finnish population.

A. de la Chapelle, B. Levinson, J. Gitschier, 1990, American journal of human genetics.

A novel missense mutation in the factor VIII gene identified by analysis of amplified hemophilia DNA sequences.

B. Levinson, J. Gitschier, J. Phillips, 1987, Nucleic acids research.

Homozygous and heterozygous deletions of the von Willebrand factor gene in patients and carriers of severe von Willebrand disease.

J. Koziol, J. Gitschier, D. Lynch, 1988, Proceedings of the National Academy of Sciences of the United States of America.

Genetic Basis of Hemophilia A

B. Levinson, J. Gitschier, S. Kogan, 1991, Thrombosis and Haemostasis.

PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Base composition-independent hybridization in tetramethylammonium chloride: a method for oligonucleotide screening of highly complex gene libraries.

W I Wood, W. Wood, J. Gitschier, 1985, Proceedings of the National Academy of Sciences of the United States of America.

A novel member of a zinc transporter family is defective in acrodermatitis enteropathica.

J. Gitschier, Bing Zhou, Y. Kuo, 2002, American journal of human genetics.

Homozygosity mapping places the acrodermatitis enteropathica gene on chromosomal region 8q24.3.

K. Doheny, E. Pugh, J. Gitschier, 2001, American journal of human genetics.

Molecular evidence that the p55 gene is not responsible for either of two Xq28-linked disorders: Emery-Dreifuss muscular dystrophy and dyskeratosis congenita.

J. Gitschier, S. Das, G. Pai, 1994, American journal of human genetics.

Mapping of human chromosome Xq28 by two-color fluorescence in situ hybridization of DNA sequences to interphase cell nuclei.

B. Trask, H. Massa, S. Kenwrick, 1991, American journal of human genetics.

Sequence of the human factor VIII-associated gene is conserved in mouse.

V. Chapman, S. Kenwrick, B. Levinson, 1992, Genomics.

Extension of the physical map in the region of the mouse X chromosome homologous to human Xq28 and identification of an exception to conserved linkage.

B. Levinson, J. Gitschier, G. Herman, 1992, Genomics.

Corrigendum: PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron

Colin A. Johnson, N. Nardocci, R. Trembath, 2006, Nature Genetics.

Mitochondrial Localization of Human PANK2 and Hypotheses of Secondary Iron Accumulation in Pantothenate Kinase‐Associated Neurodegeneration

J. Gitschier, S. Westaway, Y. Kuo, 2004, Annals of the New York Academy of Sciences.

Diverse mutations in patients with Menkes disease often lead to exon skipping.

S. Packman, C. Vulpe, B. Levinson, 1994, American journal of human genetics.

Evidence for a third transcript from the human factor VIII gene.

S. Kenwrick, B. Levinson, J. Gitschier, 1992, Genomics.

Are X–linked cutis laxa and Menkes disease allelic?

S. Packman, C. Vulpe, B. Levinson, 1993, Nature Genetics.

Isolation and sequence of two genes associated with a CpG island 5' of the factor VIII gene.

S. Kenwrick, B. Levinson, J. Gitschier, 1992, Human molecular genetics.

Genetic, clinical, and radiographic delineation of Hallervorden-Spatz syndrome.

B. Levinson, J. Gitschier, S. Westaway, 2003, The New England journal of medicine.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene, second edition.

S. Bidichandani, J. Gitschier, R. Schwaab, 1994, Nucleic acids research.

The gene encoding the palmitoylated erythrocyte membrane protein, p55, originates at the CpG island 3' to the factor VIII gene.

J. Gitschier, A. Metzenberg, 1992, Human molecular genetics.

Identification of a TXREB pseudogene (TXREBP) located between the genes for p55 (MPP1) and G6PD on Xq28.

J. Gitschier, S. Das, 1994, Genomics.

Sequence of the exon-containing regions of the human factor VIII gene.

W. Wood, J. Gitschier, 1992, Human molecular genetics.

A repeated element in the regulatory region of the MNK gene and its deletion in a patient with occipital horn syndrome.

S. Packman, B. Levinson, J. Gitschier, 1996, Human molecular genetics.

The mottled gene is the mouse homologue of the Menkes disease gene

S. Packman, C. Vulpe, B. Levinson, 1994, Nature Genetics.

Gene symbol: PANK2. Disease: pantothenate kinase-associated neurodegeneration (PKAN).

B. Levinson, J. Gitschier, S. Westaway, 2006, Human Genetics.

Maternal duplication associated with gene deletion in sporadic hemophilia.

J. Gitschier, J. Gitschier, 1988, American journal of human genetics.

Amino acid substitutions in conserved domains of factor VIII and related proteins: Study of patients with mild and moderately severe hemophilia A

B. Levinson, J. Gitschier, S. Kogan, 1992, Human mutation.

Haemophilia A: database of nucleotide substitutions, deletions, insertions and rearrangements of the factor VIII gene.

D. Cooper, J. Gitschier, R. Schwaab, 1991, Nucleic Acids Research.

35 – GENETIC PREDICTION OF HEMOPHILIA A

J. Gitschier, S. Kogan, 1990 .

Haemophilia A: database of ncleotide substituttions, deletions, insertions and rearrangements of the factor VIII gene

S. Antonarakis, D. Cooper, H. Kazazian, 1991 .

Mutational analysis of the biglycan gene excludes it as a candidate for X-linked dominant chondrodysplasia punctata, dyskeratosis congenita, and incontinentia pigmenti.

J. Gitschier, S. Das, G. Pai, 1994, American journal of human genetics.