J. Friedman

发表

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

D. Evans, C. Lázaro, G. Rouleau, 2005, Journal of Medical Genetics.

The impact of array genomic hybridization on mental retardation research: a review of current technologies and their clinical utility

F. Zahir, J. Friedman, J. Friedman, 2007, Clinical genetics.

Trends and racial disparities in muscular dystrophy deaths in the United States, 1983–1998: An analysis of multiple cause mortality data

S. Rasmussen, A. Kenneson, J. Friedman, 2006, American journal of medical genetics. Part A.

Familial carcinoma of the pancreas *

P. Fialkow, J. Friedman, J. M. Friedman, 1976, Clinical genetics.

Predictors of the risk of mortality in neurofibromatosis 2.

D. Evans, R. Ramsden, Dana Aeschliman, 2002, American journal of human genetics.

Cardiovascular disease in neurofibromatosis 1: Report of the NF1 Cardiovascular Task Force

B. McManus, J. Epstein, B. Korf, 2002, Genetics in Medicine.

neurofibromas in neurofibromatosis 1 Vitamin D deficiency associated with number of

L. Kluwe, R. Friedrich, V. Mautner, 2006 .

Vitamin D deficiency associated with number of neurofibromas in neurofibromatosis 1

L. Kluwe, R. Friedrich, V. Mautner, 2006, Journal of Medical Genetics.

Diagnostic criteria for schwannomatosis

E. A. Chiocca, A. Stemmer-Rachamimov, D. Evans, 2005, Neurology.

The genetics of Graves' disease.

P. Fialkow, J. Friedman, 1978, Clinics in endocrinology and metabolism.

Recurrent triploidy due to a failure to complete maternal meiosis II: whole-exome sequencing reveals candidate variants.

W. Robinson, M. Peñaherrera, D. McFadden, 2015, Molecular human reproduction.

Evaluation of clinical diagnostic criteria for neurofibromatosis 2

D. Evans, R. Ramsden, M. Baser, 2002, Neurology.

Chromosome abnormalities in human beings.

D. McFadden, J. Friedman, 1997, Mutation research.

INHERITANCE OF SUSCEPTIBILITY TO HISTOCOMPATIBILITY-ASSOCIATED DISEASE

J. Friedman, 1976, The Lancet.

Inheritance of fragile X syndrome: an hypothesis.

J. Friedman, P. Howard‐Peebles, J. Reynolds, 1986, American journal of medical genetics.

Linkage of malignant hyperthermia and hyperkalemic periodic paralysis to the adult skeletal muscle sodium channel (SCN4A) gene in a large pedigree.

S. Langlois, I. Yam, J. Friedman, 1998, American journal of medical genetics.

Genotype-phenotype correlations for nervous system tumors in neurofibromatosis 2: a population-based study.

D. Evans, R. Ramsden, M. Baser, 2004, American journal of human genetics.

Acute nonlymphocytic leukemia: expression in cells restricted to granulocytic and monocytic differentiation.

J. Adamson, J. Singer, P. Fialkow, 1979, The New England journal of medicine.

Short Course High Dose Radiotherapy in the Treatment of Anaplastic Thyroid Carcinoma

A. Cmelak, J. Friedman, M. Ning, 2014, Journal of thyroid research.

REPORT FROM THE ASHG INFORMATION AND EDUCATION COMMITTEE : MEDICAL SCHOOL CORE CURRICULUM IN GENETICS

R. Pagon, L. Elsas, M. Blitzer, 1995 .

Cell Marker Studies of Human Tumorigenesis

J. Friedman, Philip I. Fialkow, 1976, Transplantation reviews.

Probable clonal origin of neurofibrosarcoma in a patient with hereditary neurofibromatosis.

P. Fialkow, J. Friedman, C. Greene, 1982, Journal of the National Cancer Institute.

Longitudinal study of neurofibromatosis 1 associated plexiform neurofibromas

R. Friedrich, V. Mautner, T. Tucker, 2008, Journal of Medical Genetics.

Autoimmunity in the relatives of patients with immunodeficiency diseases.

H. Ochs, R. Wedgwood, P. Fialkow, 1977, Clinical and experimental immunology.

Population-based analyses of mortality in trisomy 13 and trisomy 18.

S. Rasmussen, L. Wong, J. Friedman, 2003, Pediatrics.

Wolf-Hirschhorn syndrome owing to 1:3 segregation of a maternal 4;21 translocation.

J. Friedman, D. Keele, P. Howard‐Peebles, 1985, American journal of medical genetics.

Genetic disease in the offspring of older fathers.

J. Friedman, 1981, Obstetrics and gynecology.

Malignant peripheral nerve sheath tumors in neurofibromatosis 1.

D. Evans, M. Baser, B. Timms, 2001 .

Hemifacial microsomia in cri du chat (5p-) syndrome.

J. Friedman, P. Howard‐Peebles, K. W. Neu, 1982, Journal of craniofacial genetics and developmental biology.

Recurrent trisomy 21 in a couple with a child presenting trisomy 21 mosaicism and maternal uniparental disomy for chromosome 21 in the euploid cell line.

H. Bruyèrè, W. Robinson, R. Rupps, 2000, American journal of medical genetics.

Clinical and scientific impact of human papillomavirus on head and neck cancer.

A. Cmelak, J. Friedman, M. Stavas, 2014, World journal of clinical oncology.

Comparison of the 15q deletions in Prader-Willi and Angelman syndromes: specific regions, extent of deletions, parental origin, and clinical consequences.

J. Zonana, S. Lafranchi, R. Magenis, 1990, American journal of medical genetics.

Genetics and epidemiology, congenital anomalies and cancer.

J. Friedman, 1997, American journal of human genetics.

From whole brain to hospice: patterns of care in radiation oncology.

J. Friedman, M. Stavas, Sumathi Misra, 2013, Journal of palliative medicine.

Genotype-phenotype correlations for cataracts in neurofibromatosis 2

D. Evans, R. Ramsden, M. Baser, 2003, Journal of medical genetics.

ReCAP: the Registry of Cytogenetic Abnormalities and Phenylketonuria.

J P Smith, S G Mize, S. Mize, 1987, American journal of medical genetics.

Experiments and the concept of immunological surveillance

G. Möller, J. Friedman, 1976 .

On the Use of Population Attributable Fraction to Determine Sample Size for Case-Control Studies of Gene-Environment Interaction

M. Khoury, W. Flanders, Quanhe Yang, 2003, Epidemiology.

Carcinoma of the pancreas in four brothers.

P. Fialkow, J. Friedman, 1976, Birth defects original article series.

Improving the prediction of complex diseases by testing for multiple disease-susceptibility genes.

Muin J Khoury, Quanhe Yang, Lorenzo Botto, 2003, American journal of human genetics.

Serum Folate and Cancer Mortality Among U.S. Adults: Findings from the Third National Health and Nutritional Examination Survey Linked Mortality File

R. Bostick, W. Flanders, Quanhe Yang, 2009, Cancer Epidemiology Biomarkers & Prevention.

The gene responsible for X-linked cleft palate (CPX) in a British Columbia native kindred is localized between PGK1 and DXYS1.

P. Goodfellow, S. Gorski, J. Friedman, 1992, American journal of human genetics.

Natural history of X-linked aqueductal stenosis in the second and third trimesters of pregnancy.

J. Friedman, R. Santos‐Ramos, 1984, American journal of obstetrics and gynecology.

Trisomy‐21 in Mother and Child: Report of a Case

D. Barclay, M. Varela, J. Friedman, 1970, Obstetrics and gynecology.

Unaffected carrier males in families with fragile X syndrome.

J. Friedman, P. Howard‐Peebles, 1985, American journal of human genetics.

Cardiovascular malformations and other cardiovascular abnormalities in neurofibromatosis 1.

C. Romano, R. Tenconi, B. Korf, 2000, American journal of medical genetics.

Oxford Medical Databases

J. Friedman, 1997 .

The location of constitutional neurofibromatosis 2 (NF2) splice site mutations is associated with the severity of NF2

C. Lázaro, G. Rouleau, R. Ramsden, 2005, Journal of Medical Genetics.

Duty to Re-Contact: A Study of Families at Risk for Fragile X

S. Langlois, M. V. Van Allen, J. Friedman, 1999, Journal of Genetic Counseling.