J. Trofatter

发表

Hyperkalemic periodic paralysis and the adult muscle sodium channel alpha-subunit gene.

J. Haines, E. Hoffman, J. Gusella, 1990, Science.

A 500-kilobase region containing the tuberous sclerosis locus (TSC1) in a 1.7-megabase YAC and cosmid contig.

M. Rutter, A. Buckler, J. Rutter, 1995, Genomics.

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor.

N. Kley, M. Duyao, J. Rutter, 1993, Cell.

A Locus for Circadian Period of Locomotor Activity on Mouse Proximal Chromosome 3

J. Trofatter, J. Hofstetter, A. Mayeda, 2004, Chronobiology international.

Linkage studies in familial Alzheimer's disease.

M. Pericak-Vance, A. Roses, C. Clark, 1989 .

Localization of juvenile, but not late-infantile, neuronal ceroid lipofuscinosis on chromosome 16.

J. Haines, T. Lerner, J. Gusella, 1993, American journal of human genetics.

Myelin protein zero gene mutated in Charcot-Marie-tooth type 1B patients.

R. Lebo, J. Ravetch, J. Trofatter, 1993, Proceedings of the National Academy of Sciences of the United States of America.

Mutational analysis of patients with neurofibromatosis 2.

D. Louis, M. Short, V. Ramesh, 1994, American journal of human genetics.

DNA diagnosis of neurofibromatosis 2. Altered coding sequence of the merlin tumor suppressor in an extended pedigree.

J. Gusella, V. Ramesh, J. Trofatter, 1993, JAMA.

Dinucleotide repeat polymorphisms at the SCN4A locus suggest allelic heterogeneity of hyperkalemic periodic paralysis and paramyotonia congenita.

M. Pericak-Vance, D. Radosavljević, T. Bird, 1992, American journal of human genetics.

A Single Copy of Carbonic anhydrase 2 Restores Wild-type Circadian Period to Carbonic Anhydrase II-Deficient Mice

D. Lahiri, J. Trofatter, J. Hofstetter, 2006, Behavior genetics.

Exon scanning for mutation of the NF2 gene in schwannomas.

J. Gusella, B. Seizinger, N. Kley, 1994, Human molecular genetics.

Linkage studies of late-onset familial Alzheimer's disease.

J. Gilbert, M. Pericak-Vance, A. Roses, 1990, Advances in neurology.

Denaturing Gradient Gel Analysis of Single‐Base Substitutions at a Mouse Adenine Phosphoribosyltransferase Splice Acceptor Site

J. Tischfield, P. Stambrook, J. Trofatter, 1989, Molecular carcinogenesis.

Localization of the gene for familial dysautonomia on chromosome 9 and definition of DNA markers for genetic diagnosis

J. Haines, J. Gusella, X. Breakefield, 1993, Nature Genetics.

Von HippelLindau disease maps to the region of chromosome 3 associated with renal cell carcinoma

J. Haines, C. Mathew, J. Halperin, 1988, Nature.

A novel moesin-, ezrin-, radixin-like gene is a candidate for the neurofibromatosis 2 tumor suppressor

J. Haines, M. MacDonald, R. Martuza, 1993, Cell.

Isolation of genes from complex sources of mammalian genomic DNA using exon amplification

D. Church, A. Buckler, J. Rutter, 1994, Nature Genetics.

Human monoamine oxidase gene (MAOA): chromosome position (Xp21-p11) and DNA polymorphism.

J. Haines, G. Bruns, J. Trofatter, 1988, Genomics.

Genetic linkage studies in Alzheimer's disease families

J. M. Vance, J. L. Haines, A. D. Roses, 1988, Experimental Neurology.

An expression-independent catalog of genes from human chromosome 22.

J. Gusella, A. Buckler, J. Murrell, 1995, Genome research.

A highly polymorphic dinucleotide repeat on the proximal short arm of the human X chromosome: linkage mapping of the synapsin I/A-raf-1 genes.

H. Willard, C. Kirchgessner, J. Trofatter, 1991, American journal of human genetics.

Localization of the gene for X-linked nephrogenic diabetes insipidus to Xq28.

M. Hodes, J. Trofatter, P. Conneally, 1988, American journal of medical genetics.

Exclusion of familial dysautonomia from more than 60% of the genome.

J. Haines, X. Breakefield, S. Slaugenhaupt, 1993, Journal of medical genetics.

Hereditary variations in monoamine oxidase as a risk factor for Parkinson's disease

C. Markham, J. Growdon, X. Breakefield, 1994, Movement disorders : official journal of the Movement Disorder Society.

Autosomal dominant retinitis pigmentosa: linkage to rhodopsin and evidence for genetic heterogeneity.

H. Eiberg, D. Bradley, J. Trofatter, 1990, Genomics.

Genetic Linkage Studies in Late-Onset Alzheimer’s Disease Families

J. Gilbert, J. Haines, M. Pericak-Vance, 1988 .

Genetic linkage of bilateral acoustic neurofibromatosis to a DNA marker on chromosome 22

J. Haines, R. Martuza, J. Gusella, 1987, Nature.

Suicide risk in Huntington's disease.

G. Campanella, F. Squitieri, J. Trofatter, 1993, Journal of medical genetics.

Mutations in transcript isoforms of the neurofibromatosis 2 gene in multiple human tumour types

J. Gusella, B. Seizinger, N. Kley, 1994, Nature Genetics.

The murine NF2 homologue encodes a highly conserved merlin protein with alternative forms.

J. Gusella, V. Ramesh, V. Haase, 1994, Human molecular genetics.

Linkage localization of X-linked Charcot-Marie-Tooth disease.

J. Haines, M. Pericak-Vance, K. Fischbeck, 1993, American journal of human genetics.

Heterogeneity in X-linked recessive Charcot-Marie-Tooth neuropathy.

J. Haines, A. Summers, J. Trofatter, 1991, American journal of human genetics.

A genetic linkage map of the long arm of human chromosome 22.

J. Haines, J. Gusella, N. Wexler, 1989, Genomics.

Peripherin gene is linked to keratin 18 gene on human chromosome 12

J. Haines, T. Lerner, J. Gusella, 1995, Somatic cell and molecular genetics.

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

M. King, T. Bird, R. Lovelace, 1991, Human Genetics.

Onset symptoms in 510 patients with Huntington's disease.

G. Campanella, F. Squitieri, J. Trofatter, 1993, Journal of medical genetics.

New Quantitative Trait Loci for the Genetic Variance in Circadian Period of Locomotor Activity between Inbred Strains of Mice

J. Nurnberger, J. Trofatter, J. Hofstetter, 2003, Journal of biological rhythms.

A mutation at codon 279 (N279K) in exon 10 of the Tau gene causes a tauopathy with dementia and supranuclear palsy

Olivier Rascol, Michel Mohr, O. Rascol, 1999, Acta Neuropathologica.

Different gene loci for hyperkalemic and hypokalemic periodic paralysis

J. Haines, J. Gusella, G. Rouleau, 1991, Neuromuscular Disorders.

Pelizaeus-Merzbacher disease: tight linkage to proteolipid protein gene exon variant.

M. Hodes, J. Trofatter, P. Conneally, 1989, Proceedings of the National Academy of Sciences of the United States of America.

Genetic Heterogeneity in Tuberous Sclerosis. Study of a Large Collaborative Dataset a

J. Haines, M. Pericak-Vance, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Genetic linkage studies in autosomal dominant parkinsonism: Evaluation of seven candidate genes

J. Gusella, X. Breakefield, R. Uitti, 1994, Annals of neurology.

LIPIN: an interactive data entry and management program for LIPED.

J L Haines, J. Haines, J. Trofatter, 1986, American journal of human genetics.

Protein kinase C: a new linkage marker for growth hormone and for COL1A1.

H. Willard, A. Ullrich, J. Keefer, 1989, Genomics.

AhaII polymorphism in human X-linked proteolipid protein gene (PLP).

M. Hodes, J. Trofatter, V. Pratt, 1991, Nucleic acids research.

New variant in exon 3 of the proteolipid protein (PLP) gene in a family with Pelizaeus-Merzbacher disease.

M. Hodes, J. Trofatter, V. Pratt, 1992, American journal of medical genetics.

In-frame deletion in the proteolipid protein gene of a family with Pelizaeus-Merzbacher disease.

M. Hodes, J. Trofatter, V. Pratt, 1995, American journal of medical genetics.

A new mutation in the proteolipid protein (PLP) gene in a German family with Pelizaeus-Merzbacher disease.

M. Hodes, A. Schinzel, J. Trofatter, 1991, American journal of medical genetics.

Mapping of the gene for X‐linked dominant Charcot‐Marie‐Tooth neuropathy

J. Haines, J. Trofatter, V. Ionasescu, 1992, Neurology.

Chromosome 1 Charcot-Marie-Tooth disease (CMT1B) locus in the Fcγ receptor gene region

M. King, T. Bird, R. Lovelace, 2004, Human Genetics.

Contributors and Participants

D. Cox, A. Kong, N. Mendell, 1982 .

Mapping of a gene determining tuberous sclerosis to human chromosome 11q14-11q23.

R. Cantor, Y. Nakamura, S. Smalley, 1990, Genomics.

Charcot-Marie-Tooth neuropathy related to chromosome 1.

J. Haines, J. Trofatter, V. Ionasescu, 1992, American journal of medical genetics.

X‐linked recessive Charcot–Marie‐Tooth neuropathy: Clinical and genetic study

J. Haines, A. Summers, J. Trofatter, 1992, Muscle & nerve.

Cloning and characterization of a novel human clathrin heavy chain gene (CLTCL).

A. Buckler, V. Ramesh, M. K. McCormick, 1996, Genomics.