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1

I1307K APC and hMLH1 mutations in a non-Jewish family with hereditary non-polyposis colorectal cancer

Zhi Qiang Yuan, Lidia Kasprzak, Philip H Gordon, Leonard Pinsky, William D Foulkes

Journal:

Clinical Genetics

Year:

1998

Language:

english

File:

PDF, 188 KB

english, 1998

2

Do Machines Think About Machines Thinking?

Journal:

Year:

1951

Language:

english

File:

PDF, 281 KB

english, 1951

3

Androgen insensitivity

Gottlieb, Bruce, Pinsky, Leonard, Beitel, Lenore K., Trifiro, Mark

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 331 KB

english, 1999

4

Update of the androgen receptor gene mutations database

Bruce Gottlieb, Lenore K. Beitel, Rose Lumbroso, Leonard Pinsky, Mark Trifiro

Journal:

Year:

1999

Language:

english

File:

PDF, 380 KB

english, 1999

5

Analysis of exon 1 mutations in the androgen receptor gene

Bruce Gottlieb, Denise M. Vasiliou, Rose Lumbroso, Lenore K. Beitel, Leonard Pinsky, Mark A. Trifiro

Journal:

Year:

1999

Language:

english

File:

PDF, 495 KB

english, 1999

6

5α-Reductase activity of genital and nongenital skin fibroblasts from patients with 5α-reductase deficiency, androgen insensitivity, or unknown forms of male pseudohermaphroditism

Leonard Pinsky, Morris Kaufman, Cipia Straisfeld, Barbara Zilahi, Conrad St.-G. Hall, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 648 KB

english, 1978

7

The syndromology of anorectal malformation (atresia, stenosis, ectopia)

Dr. Leonard Pinsky, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 953 KB

english, 1978

8

Complete androgen insensitivity with a normal amount of 5α-dihydrotestosterone-binding activity in labium majus skin fibroblasts

Morris Kaufman, Leonard Pinsky, Patricia A. Baird, Barbara C. McGillivray, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1979

Language:

english

File:

PDF, 675 KB

english, 1979

9

Congenital androgen insensitivity due to a qualitatively abnormal androgen receptor

Leonard Pinsky, Morris Kaufman, Robert L. Summitt, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1981

Language:

english

File:

PDF, 582 KB

english, 1981

10

Origin of the “associated” anomalies in Kaufman-McKusick syndrome

Dr. Leonard Pinsky

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 90 KB

english, 1983

11

Familial external genital ambiguity due to a transformation defect of androgen-receptor complexes that is expressed with 5α-dihydrotestosterone and the synthetic androgen methyltrienolone

Morris Kaufman, Dr. Leonard Pinsky, Adria Bowin, Mary W. S. Au

Journal:

American Journal of Medical Genetics Part A

Year:

1984

Language:

english

File:

PDF, 883 KB

english, 1984

12

Deletion of the long arm of the Y chromosome and review of Y chromosome abnormalities

Dr. Naomi Fitch, Claude-Lise Richer, Leonard Pinsky, Amnon Kahn, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1985

Language:

english

File:

PDF, 709 KB

english, 1985

13

Partial androgen resistance due to a distinctive qualitative defect of the androgen receptor

Dr. Leonard Pinsky, Morris Kaufman, Lynne L. Levitsky, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1987

Language:

english

File:

PDF, 549 KB

english, 1987

14

Impaired spermatogenesis is not an obligate expression of receptor-defective androgen resistance

Dr. Leonard Pinsky, Morris Kaufman, Donald W. Killinger, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1989

Language:

english

File:

PDF, 598 KB

english, 1989

15

Amber mutation creates a diagnostic MaeI site in the androgen receptor gene of a family with complete androgen insensitivity

Mark Trifiro, R. Lynn Prior, Nelly Sabbaghian, Dr. Leonard Pinsky, Morris Kaufman, Edward G. Nylen, Denise D. Belsham, Cheryl R. Greenberg, Klaus Wrogemann

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 686 KB

english, 1991

16

Book review

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 34 KB

english, 2004

17

Lesch-Nyhan mutation: The influence of population density on purine phosphoribosyltransferase activities and exogenous purine utilization in monolayer cultures of skin fibroblasts

Stephen Wood, Leonard Pinsky

Journal:

Journal of Cellular Physiology

Year:

1972

Language:

english

File:

PDF, 603 KB

english, 1972

18

Kennedy's Disease : Caspase Cleavage of the Androgen Receptor Is a Crucial Event in Cytotoxicity

Lisa M. Ellerby, Abigail S. Hackam, Stephanie S. Propp, H. Michael Ellerby, Shahrooz Rabizadeh, Neil R. Cashman, Mark A. Trifiro, Leonard Pinsky, Cheryl L. Wellington, Guy S. Salvesen, Michael R. Hayd

Journal:

Journal of Neurochemistry

Year:

1999

Language:

english

File:

PDF, 295 KB

english, 1999

19

Studies of the orotidine 5′-monophosphate decarboxylase activity of crude extracts of human cells

Robert S. Krooth, Yue-Liang Pan, Leonard Pinsky

Journal:

Biochemical Genetics

Year:

1973

Language:

english

File:

PDF, 812 KB

english, 1973

20

Genetic counseling and interpretation of genetic tests in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer

Nora Wong, Dana Lasko, Rogério Rabelo, Leonard Pinsky, Philip H. Gordon, William Foulkes

Journal:

Diseases of the Colon & Rectum

Year:

2001

Language:

english

File:

PDF, 865 KB

english, 2001

21

Role of molecular diagnostic testing in familial adenomatous polyposis and hereditary nonpolyposis colorectal cancer families

Rogério Rabelo, William Foulkes, Philip H. Gordon, Nora Wong, Zhi Qiang Yuan, Elizabeth MacNamara, George Chong, Leonard Pinsky, Dana Lasko

Journal:

Diseases of the Colon & Rectum

Year:

2001

Language:

english

File:

PDF, 1.24 MB

english, 2001

22

Characterization of intracellular aggregates using fluorescently-tagged polyglutamine-expanded androgen receptor

Valerie Panet-Raymond, Bruce Gottlieb, Lenore K. Beitel, Hyman Schipper, Michael Timiansky, Leonard Pinsky, Mark A. Trifiro

Journal:

Neurotoxicity Research

Year:

2001

Language:

english

File:

PDF, 2.51 MB

english, 2001

23

Retrospective Analysis of Patients Undergoing One- or Two-Stage Strategies for Myocardial Revascularization and Implantable Cardioverter Defibrillator Implantation

SERGIO L. PINSKI, MATTHEW J. MICK, ANITA Z. ARNOLD, LEONARD GOLDING, PATRICK M. MCCARTHY, LON W. CASTLE, JAMES D. MALONEY, RICHARD G. TROHMAN

Journal:

Pacing and Clinical Electrophysiology

Year:

1991

Language:

english

File:

PDF, 769 KB

english, 1991

24

Clinical Experience with the Combination of an Antitachycardia Pacemaker (Orthocor II) and the Implantable Cardioverter-Defibrillator in Drug-Refractory Ventricular Tachycardia

JAMES D. MALONEY, SERGIO L. PINSKI, MARTIN. MASTERSON, BRUCE. WILKOFF, TONY. SIMMONS, VICTOR A. MORANT, LEONARD. GOLDING, LON W. CASTLE

Journal:

Journal of Interventional Cardiology

Year:

1990

Language:

english

File:

PDF, 678 KB

english, 1990

25

GM1-gangliosidosis Types 1 and 2: Enzymatic Differences in Cultured Fibroblasts

PINSKY, LEONARD, POWELL, ELIZABETH, CALLAHAN, JOHN

Journal:

Year:

1970

File:

PDF, 324 KB

1970

26

Reduced transcriptional regulatory competence of the androgen receptor in X–linked spinal and bulbar muscular atrophy

Mhatre, Anand N., Trifiro, Mark A., Kaufman, Morris, Kazemi-Esfarjani, Parsa, Figlewicz, Denise, Rouleau, Guy, Pinsky, Leonard

Journal:

Nature Genetics

Year:

1993

File:

PDF, 604 KB

1993

27

Increased T-type Ca2+ channel activity as a determinant of cellular toxicity in neuronal cell lines expressing polyglutamine-expanded human androgen receptors

Adrian Sculptoreanu, Hanan Abramovici, Abdullah A.R. Abdullah, Anna Bibikova, Valerie Panet-Raymond, Dov Frankel, Hyman M. Schipper, Leonard Pinsky, Mark A. Trifiro

Journal:

Molecular and Cellular Biochemistry

Year:

2000

Language:

english

File:

PDF, 125 KB

english, 2000

28

The polymorphic CAG repeat of the androgen receptor gene: a potential role in breast cancer in women over 40

Youssef A. Elhaji, Bruce Gottlieb, Rose Lumbroso, Lenore K. Beitel, William D. Foulkes, Leonard Pinsky, Mark A. Trifiro

Journal:

Breast Cancer Research and Treatment

Year:

2001

Language:

english

File:

PDF, 129 KB

english, 2001

29

The de Lange syndrome. By J. M. Berg, B. D. McCreary, M.A.C. Ridler, and G. F. Smith. Pergamon, Oxford. 127 pp. 1970

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1972

Language:

english

File:

PDF, 291 KB

english, 1972

30

A community of human malformation syndromes involving the müllerian ducts, distal extremities, urinary tract, and ears

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1974

Language:

english

File:

PDF, 1.29 MB

english, 1974

31

Human male sexual maldevelopment: Teratogenetic classification of monogenic forms

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1974

Language:

english

File:

PDF, 995 KB

english, 1974

32

The community of human malformation syndromes that shares ectodermal dysplasia and deformities of the hands and feet

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Year:

1975

Language:

english

File:

PDF, 1.37 MB

english, 1975

33

Expression of androgen-responsive properties in human skin fibroblast strains of genital and nongenital origin

Morris Kaufman, Cipia Straisfeld, Leonard Pinsky

Journal:

Somatic Cell and Molecular Genetics

Year:

1977

Language:

english

File:

PDF, 423 KB

english, 1977

34

Utility of Echocardiographic Radial Strain Imaging to Quantify Left Ventricular Dyssynchrony and Predict Acute Response to Cardiac Resynchronization Therapy

Kaoru Dohi, Matthew S. Suffoletto, David Schwartzman, Leonard Ganz, Michael R. Pinsky, John Gorcsan III

Journal:

The American Journal of Cardiology

Year:

2005

Language:

english

File:

PDF, 353 KB

english, 2005

35

The differences between the sexes: by R.V. Short and E. Balaban Cambridge University Press, 1994. £55.00/$100.00 hbk (479 pages) ISBN 0 521 44878 6

Journal:

Trends in Genetics

Year:

1995

Language:

english

File:

PDF, 436 KB

english, 1995

36

The 56 kDa androgen binding protein is an aldehyde dehydrogenase

Fred Pereira, Eduardo Rosenmann, Edward Nylen, Morris Kaufman, Leonard Pinsky, Klaus Wrogemann

Journal:

Biochemical and Biophysical Research Communications

Year:

1991

Language:

english

File:

PDF, 1.57 MB

english, 1991

37

The dissociation of testosterone- and 5α-dihydrotestosterone-receptor complexes formed within cultured human genital skin fibroblasts

Morris Kaufman, Leonard Pinsky

Journal:

Journal of Steroid Biochemistry

Year:

1983

Language:

english

File:

PDF, 591 KB

english, 1983

38

Regulation of the androgen receptor by androgen in normal and androgen-resistant genital skin fibroblasts

Morris Kaufman, Leonard Pinsky, Ricki Hollander, John D. Bailey

Journal:

Journal of Steroid Biochemistry

Year:

1983

Language:

english

File:

PDF, 907 KB

english, 1983

39

Possible implications of the comparative dissociative behavior of testosterone- and 5α-dihydrotestosterone-receptor complexes formed by human skin fibroblasts

Morris Kaufman, Leonard Pinsky, Anne Schwartz, Leslie Long-Simpson

Journal:

Journal of Steroid Biochemistry

Year:

1983

Language:

english

File:

PDF, 540 KB

english, 1983

40

Extracellular correction of the androgen-receptor transformation defect in two families with complete androgen resistance

Bruce Gottlieb, Morris Kaufman, Leonard Pinsky, Gilles Leboeuf, Juan F. Sotos

Journal:

Journal of Steroid Biochemistry

Year:

1987

Language:

english

File:

PDF, 772 KB

english, 1987

41

An abundant 56 kD protein with low affinity androgen binding: Another member of the steroid/thyroid receptor family?

Klaus Wrogemann, Fred Pereira, Denise Belsham, Morris Kaufman, Leonard Pinsky, Eduardo Rosenmann

Journal:

Biochemical and Biophysical Research Communications

Year:

1988

Language:

english

File:

PDF, 1.92 MB

english, 1988

42

Interactions between androgen and estrogen receptors and the effects on their transactivational properties

Valerie Panet-Raymond, Bruce Gottlieb, Lenore K Beitel, Leonard Pinsky, Mark A Trifiro

Journal:

Molecular and Cellular Endocrinology

Year:

2000

Language:

english

File:

PDF, 245 KB

english, 2000

43

Cytochrome c oxidase subunit Vb interacts with human androgen receptor: a potential mechanism for neurotoxicity in spinobulbar muscular atrophy

Annie M.J. Beauchemin, Bruce Gottlieb, Lenore K. Beitel, Youssef A. Elhaji, Leonard Pinsky, Mark A. Trifiro

Journal:

Brain Research Bulletin

Year:

2001

Language:

english

File:

PDF, 381 KB

english, 2001

44

Molecular Analysis of 9p Deletions Associated with XY Sex Reversal: Refining the Localization of a Sex-Determining Gene to the Tip of the Chromosome

Silvana Guioli, Karin Schmitt, Ricky Critcher, Mark Bouzyk, Nigel K. Spurr, Tsutomu Ogata, Joe J. Hoo, Leonard Pinsky, Giorgio Gimelli, Linda Pasztor, Peter N. Goodfellow

Journal:

The American Journal of Human Genetics

Year:

1998

Language:

english

File:

PDF, 356 KB

english, 1998

45

A familial syndrome of facial and skeletal anomalies associated with genital abnormality in the male and normal genitals in the female: Another cause of male pseudohermaphroditism

Leonard Pinsky, Angelo M. DiGeorge

Journal:

The Journal of Pediatrics

Year:

1965

Language:

english

File:

PDF, 1.95 MB

english, 1965

46

Microphthalmos, corneal opacity, mental retardation, and spastic cerebral palsy. An oculocerebral syndrome

Leonard Pinsky, Angelo M. DiGeorge, Robison D. Harley, Henry W. Baird III

Journal:

The Journal of Pediatrics

Year:

1965

Language:

english

File:

PDF, 4.76 MB

english, 1965

47

Familial reciprocal C, E translocation in 3 generations

Hope H. Punnett, Leonard Pinsky, Angelo M. DiGeorge, Robert J. Gorlin

Journal:

The Journal of Pediatrics

Year:

1965

Language:

english

File:

PDF, 67 KB

english, 1965

48

A link between Turner syndrome in the male and Turner syndrome in the female with normal chromosomes

Angelo M. DiGeorge, Leonard Pinsky

Journal:

The Journal of Pediatrics

Year:

1965

Language:

english

File:

PDF, 66 KB

english, 1965

49

Congenital familial sensory neuropathy with anhidrosis

Leonard Pinsky, Angelo M. DiGeorge

Journal:

The Journal of Pediatrics

Year:

1966

Language:

english

File:

PDF, 6.29 MB

english, 1966

50

The lateral facial profile of the Silver-Russell dwarf

Naomi Fitch, Leonard Pinsky

Journal:

The Journal of Pediatrics

Year:

1972

Language:

english

File:

PDF, 3.55 MB

english, 1972

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