J. Amos

发表

Commercial molecular diagnostics in the U.S.: The Human Genome Project to the clinical laboratory

J. Amos, M. Patnaik, 2002, Human mutation.

Pulmonary function and clinical observations in men with congenital bilateral absence of the vas deferens.

S. Sawyer, J. Amos, A. Colin, 1996, Chest.

Localization of one gene for tuberous sclerosis within 9q32-9q34, and further evidence for heterogeneity.

J. Haines, J. Gusella, D. Kwiatkowski, 1991, American journal of human genetics.

An Attempt to Map Two Genes for Tuberous Sclerosis Using Novel Two‐Point Methods a

J. Haines, N. Morton, J. Attwood, 1991, Annals of the New York Academy of Sciences.

Erratum: Standards and guidelines for CFTR mutation testing (Genetics in Medicine (2002) 4 (379-391))

W. Grody, M. Watson, C. Richards, 2002 .

A universal array-based multiplexed test for cystic fibrosis carrier screening

Michael R Jarvis, J. Amos, Philippa Bridge-Cook, 2006, Expert review of molecular diagnostics.

Molecular and cytogenetic characterization of a de novo t(5p;21q) in a patient previously diagnosed as monosomy 21.

G. D. Stewart, R. Stevenson, R. Tanzi, 1988, American journal of human genetics.

A 22-bp deletion in the coding region of the cystic fibrosis gene.

M. White, M. Dean, B. Gerrard, 1992, Genomics.

Three additional DNA polymorphisms in the met gene and D7S8 locus: use in prenatal diagnosis of cystic fibrosis.

M. Leppert, P. O'Connell, G. V. Vande Woude, 1987, The Journal of pediatrics.

Relative argininosuccinate synthetase mRNA levels and gene copy number in canavanine-resistant lymphoblasts.

J. Gusella, J. Amos, L. B. Jacoby, 1984, Biochimica et biophysica acta.

Multicenter characterization and validation of the intron-8 poly(T) tract (IVS8-T) status in 25 Coriell cell repository cystic fibrosis reference cell lines for cystic fibrosis transmembrane conductance regulator (CFTR) gene mutation assays.

E. Lyon, F. Schaefer, S. Spitzer, 2004, Clinical chemistry.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

M. White, M. Dean, B. Gerrard, 1992 .

A mutation in CFTR produces different phenotypes depending on chromosomal background

L. Tsui, R. Crystal, M. Macek, 1993, Nature Genetics.

An exonic mutation in the HuP2 paired domain gene causes Waardenburg's syndrome

C. Baldwin, J. Amos, A. Milunsky, 1992, Nature.

Congenital bilateral absence of the vas deferens and cystic fibrosis

J. Amos, R. Oates, 1993, World Journal of Urology.

The genetic basis of congenital bilateral absence of the vas deferens and cystic fibrosis.

J. Amos, R. Oates, R D Oates, 1994, Journal of andrology.

Immunology: Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene

J. Amos, R. Oates, A. Milunsky, 1995 .

Congenital unilateral absence of the vas deferens: a heterogeneous disorder with two distinct subpopulations based upon aetiology and mutational status of the cystic fibrosis gene.

J. Amos, R. Oates, A. Milunsky, 1995, Human reproduction.

DNA-based carrier screening in the Ashkenazi Jewish population

J. Amos, Bailing Zhang, L. Dearing, 2004, Expert review of molecular diagnostics.

Multiple mutations in highly conserved residues are found in mildly affected cystic fibrosis patients

M. Leppert, M. White, M. Dean, 1990, Cell.

Diminished support for linkage between manic depressive illness and X–chromosome markers in three Israeli pedigrees

J. R. Alexander, N. Risch, J. Ott, 1993, Nature Genetics.

Prenatal diagnosis and linkage disequilibrium with cystic fibrosis for markers surrounding D7S8

F. Collins, M. Iannuzzi, B. Weir, 1990, Human Genetics.

A Comparative Study on Genetic Heterogeneity in Tuberous Sclerosis: Evidence for One Gene on 9q34 and a Second Gene on 11q22–23 a

J. Haines, J. Attwood, S. Povey, 1991, Annals of the New York Academy of Sciences.

Genotype-phenotype correlation and frequency of the 3199del6 cystic fibrosis mutation among I148T carriers: Results from a collaborative study

Weimin Sun, C. Strom, M. Friez, 2004, Genetics in Medicine.

Standards and Guidelines for CFTR Mutation Testing

W. Grody, M. Watson, C. Richards, 2002, Genetics in Medicine.

Identification of cystic fibrosis mutations.

M. Leppert, V. Baranov, M. Dean, 1991, Advances in experimental medicine and biology.

The value of deletion analysis for carrier detection in Duchenne muscular dystrophy (DMD)

B. Bejjani, J. Amos, A. Milunsky, 1991, Clinical genetics.

Dystrophin analysis in duchenne muscular dystrophy: use in fetal diagnosis and in genetic counseling.

F. Bieber, E. Hoffman, J. Amos, 1989, American journal of human genetics.

Prenatal diagnosis of myotonic muscular dystrophy with linked deoxyribonucleic acid probes.

J. Milunsky, J. Amos, A. Milunsky, 1991, American journal of obstetrics and gynecology.

Detection of genomic polymorphisms associated with venous thrombosis using the invader biplex assay.

M. Hessner, T. Williams, E. Lau, 2004, The Journal of molecular diagnostics : JMD.

Genetically characterized positive control cell lines derived from residual clinical blood samples.

S. Thibodeau, D. H. Farkas, C. Strom, 2005, Clinical chemistry.

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.

Developing a Sustainable Process to Provide Quality Control Materials for Genetic Testing

Elaine Lyon, Carolyn Sue Richards, Lawrence M Silverman, 2005, Genetics in Medicine.

46,XY/47,XYY male with the fragile X syndrome: cytogenetic and molecular studies.

J. Herskowitz, L. Farrer, H. Wyandt, 1993, American journal of medical genetics.

A frame-shift mutation in the cystic fibrosis gene

Michael Dean, M. White, M. Dean, 1990, Nature.

Waardenburg syndrome (WS) type I is caused by defects at multiple loci, one of which is near ALPP on chromosome 2: first report of the WS consortium.

K. Arnos, L. Farrer, P. Beighton, 1992, American journal of human genetics.

Congenital bilateral absence of the vas deferens. A primarily genital form of cystic fibrosis.

M. White, B. Gerrard, J. Amos, 1992, JAMA.

Development and integration of molecular genetic tests into clinical practice: the US experience

W. Grody, J. Amos, 2004, Expert review of molecular diagnostics.

Genetic Analysis of Ion Transport

M. Leppert, M. White, V. Baranov, 1992 .

Testing environment for single‐gene disorders in U.S. reference laboratories

B. Gold, J. Amos, 1998, Human mutation.