Michael J. Kaback: search on Z-Library

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1

The carrier frequency of the BRCA1 185delAG mutation is approximately 1 percent in Ashkenazi Jewish individuals

Struewing, Jeffery P., Abeliovich, Dvorah, Peretz, Tamar, Avishai, Naaman, Kaback, Michael M., Collins, Francis S., Brody, Lawrence C.

Journal:

Nature Genetics

Year:

1995

File:

PDF, 400 KB

1995

2

[Advances in Genetics] Tay-Sachs Disease Volume 44 || 1. Tay-Sachs disease: From clinical description to molecular defect

Kaback, Michael M.

Year:

2001

Language:

english

File:

PDF, 165 KB

english, 2001

3

Plenary Session IV (Continued)

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 334 KB

english, 1997

4

Plenary Session IV: Industrial/Academic Collaboration to Find Genes and Update on Genes for Alzheimer's Disorder

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 318 KB

english, 1997

5

Evaluation of mental retardation: Recommendations of a consensus conference

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 64 KB

english, 1997

6

Plenary Session II: Genetic Diversity and Epidemiology

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 133 KB

english, 1997

7

Abstracts

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 204 KB

english, 1997

8

Plenary Session III: Ethical Issues in Psychiatry and Related Posters

Curry, Cynthia J., Stevenson, Roger E., Aughton, David, Byrne, Janice, Carey, John C., Cassidy, Suzanne, Cunniff, Christopher, Graham, John M., Jones, Marilyn C., Kaback, Michael M., Moeschler, John,

Journal:

American Journal of Medical Genetics

Year:

1997

Language:

english

File:

PDF, 112 KB

english, 1997

9

Prenatal diagnosis of Wolman disease

Paul M. Coates, Jean A. Cortner, Michael T. Mennuti, James E. Wheeler, Michael M. Kaback

Journal:

American Journal of Medical Genetics Part A

Year:

1978

Language:

english

File:

PDF, 596 KB

english, 1978

10

Stimulation of amniotic fluid cell growth by cartilage growth factor

Dr. Mitchell S. Golbus, Mahmoud Djalali, Michael Klagsbrun, Michael M. Kaback, Richard M. Levenson, Charles J. Epstein

Journal:

American Journal of Medical Genetics Part A

Year:

1980

Language:

english

File:

PDF, 270 KB

english, 1980

11

Chromosome abnormalities in infants with prune belly anomaly: Association with trisomy 18

Moshe Frydman, R. Ellen Magenis, T. K. Mohandas, Dr. Michael M. Kaback, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Year:

1983

Language:

english

File:

PDF, 244 KB

english, 1983

12

Maternal serum hexosaminidase A in pregnancy: Effects of gestational age and fetal genotype

Yoav Ben-Yoseph, Beverley A. Pack, Pamela M. Thomas, Henry L. Nadler, Michael M. Kaback, John M. Optiz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Year:

1988

Language:

english

File:

PDF, 514 KB

english, 1988

13

Severe subacute GM2 gangliosidosis caused by an apparently silent HEXA mutation (V324V) that results in aberrant splicing and reduced HEXA mRNA

Brandy A. Wicklow, Jennifer L. Ivanovich, Margot M. Plews, Timothy J. Salo, Michael J. Noetzel, Gregg T. Lueder, Luca Cartegni, Michael M. Kaback, Konrad Sandhoff, Robert D. Steiner, Barbara L. Triggs

Journal:

American Journal of Medical Genetics Part A

Year:

2004

Language:

english

File:

PDF, 178 KB

english, 2004

14

The Ashkenazi Jewish Fanconi anemia mutation: Incidence among patients and carrier frequency in the at-risk population

Michael A. Whitney, Petra Jakobs, Michael Kaback, Robb E. Moses, Markus Grompe

Journal:

Year:

1994

Language:

english

File:

PDF, 510 KB

english, 1994

15

A novel mutation at the invariant acceptor splice site of intron 9 in the HEXA gene [IVS9-1 G→T] detected by a PCR-based diagnostic test

David H. Brown, Barbara L. Triggs-Raine, Matthew J. McGinniss, Michael M. Kaback

Journal:

Year:

1995

Language:

english

File:

PDF, 251 KB

english, 1995

16

Inherited lipid storage diseases of the central nervous system

Alan K. Percy, Larry J. Shapiro, Michael M. Kaback

Journal:

Current Problems in Pediatric and Adolescent Health Care

Year:

1979

Language:

english

File:

PDF, 2.56 MB

english, 1979

17

Maternal cell contamination in cultured chorionic villi: Comparison of chromosome Q-polymorphisms derived from villi, fetal skin, and maternal lymphocytes

John Williams III, Arnold L. Medearis, Weimei H. Chu, George D. Kovacs, Michael M. Kaback

Journal:

Prenatal Diagnosis

Year:

1987

Language:

english

File:

PDF, 537 KB

english, 1987

18

Identification of a Saccharomyces cerevisiae homolog of the SNF2 transcrioptional regulator in the DNA sequence of an 8·6 kb region in the LTE1-CYS1 interval on the left arm of chormosome I

Michael W. Clark, Wu Wei Zhong, Teresa Keng, Reginald K. Storms, Arnold Barton, David B. Kaback, Howard Bussey

Journal:

Year:

1992

Language:

english

File:

PDF, 993 KB

english, 1992

19

Physical localization of yeast CYS3, a gene whose product resembles the rat γ-cystathionase and Escherichia coli cystathionine γ-synthase enzymes

Arnold B. Barton, David B. Kaback, Michael W. Clark, Teresa Keng, B. F. Francis Ouellette, Reg K. Storms, Bin Zeng, Wuwei Zhong, Nathalie Fortin, Shawn Delaney, Howard Bussey

Journal:

Year:

1993

Language:

english

File:

PDF, 543 KB

english, 1993

20

The yal017 gene on the left arm of chromosome I of Saccharomyces cerevisiae encodes a putative serine/threonine protein kinase

Michael W. Clark, Wu Wei Zhong, B. F. Francis Ouellette, Howard Bussey, Teresa Keng, Reginald K. Storms, Arnold Barton, David B. Kaback

Journal:

Year:

1993

Language:

english

File:

PDF, 544 KB

english, 1993

21

I. Yeast sequencing reports. Sequencing of chromosome I of Saccharomyces cerevisiae: Analysis of the 42 kbp SP07-CENI-CDC15 region

Michael W. Clark, Teresa Keng, Reg K. Storms, Wuwei Zhong, Nathalie Fortin, Bin Zeng, Shawn Delaney, B. F. Francis Ouellette, Arnold B. Barton, David B. Kaback, Howard Bussey

Journal:

Year:

1994

Language:

english

File:

PDF, 532 KB

english, 1994

22

I. Yeast sequencing reports. LTE1 of Saccharomyces cerevisiae is a 1435 codon open reading frame that has sequence similarities to guanine nucleotide releasing factors

Teresa Keng, Michael W. Clark, Reg K. Storms, Nathalie Fortin, Wuwei Zhong, B. F. Francis Ouellette, Arnold B. Barton, David B. Kaback, Howard Bussey

Journal:

Year:

1994

Language:

english

File:

PDF, 512 KB

english, 1994

23

Uroporphyrinogen III cosynthetase activity in fibroblasts from patients with congenital erythropoietic porphyria

Giovanni Romeo, Michael M. Kaback, Ephraim Y. Levin

Journal:

Biochemical Genetics

Year:

1970

Language:

english

File:

PDF, 311 KB

english, 1970

24

Some influences on public participation in a genetic screening program

Marshall H. Becker, Michael M. Kaback, Irwin M. Rosenstock, Mary V. Ruth

Journal:

Journal of Community Health

Year:

1975

Language:

english

File:

PDF, 776 KB

english, 1975

25

News & Views

Vicki Kretsinger Grabert, Dawn Samara Kaback, Beth L. Parker, Steven W. Chapman, John A. Cherry, Francis H. Chapelle, Michael A. Singletary, Murray D. Einarson, Doug M. Mackay, Peter J. Bennett

Journal:

Year:

2010

Language:

english

File:

PDF, 1.10 MB

english, 2010

26

The carrier frequency of the BRCA2 6174delT mutation among Ashkenazi Jewish individuals is approximately 1%

Oddoux, Carole, Struewing, Jeffery P., Clayton, C. Mark, Neuhausen, Susan, Brody, Lawrence C., Kaback, Michael, Haas, Bruce, Norton, Larry, Borgen, Patrick, Jhanwar, Suresh

Journal:

Nature Genetics

Year:

1996

File:

PDF, 303 KB

1996

27

Severe pulmonary involvement in adult Gaucher's disease: Report of three cases and review of the literature

Edward L. Schneider, Charles J. Epstein, Michael J. Kaback, David Brandes

Journal:

The American Journal of Medicine

Year:

1977

Language:

english

File:

PDF, 2.47 MB

english, 1977

28

Tay-Sachs disease: one-step assay of β-N-acetylhexosaminidase in serum with a sulphated chromogenic substrate

Walburga Fuchs, Ruth Navon, Michael M. Kaback, Hans Kresse

Journal:

Clinica Chimica Acta

Year:

1983

Language:

english

File:

PDF, 526 KB

english, 1983

29

Health behavior and genetic screening for carriers of Tay-Sachs disease: A prospective study

Michael S. Goldstein, Susan Greenwald, Ted Nathan, Fred Massarik, Michael M. Kaback

Journal:

Social Science & Medicine (1967)

Year:

1967

Language:

english

File:

PDF, 775 KB

english, 1967

30

Intraocular Pressure-Lowering Efficacy of Brinzolamide 1%/Timolol 0.5% Fixed Combination Compared with Brinzolamide 1% and Timolol 0.5%

Martin Kaback, Stephen V. Scoper, George Arzeno, John E. James, Steven Y. Hua, Craig Salem, Jaime E. Dickerson, Theresa A. Landry, Michael V.W. Bergamini

Journal:

Year:

2008

Language:

english

File:

PDF, 165 KB

english, 2008

31

A35. Prevention of pore-formation by voltage-dependent anion channel protects against mitochondrial dysfunction and cell death

Jun Zhang, Thomas M. Vondriska, David A. Liem, Shushi Nagamori, Jeff Abramson, Guangwu Wang, Rachna Ujwal, Chenggong Zong, Michael J. Zhang, James N. Weiss, Ronald H. Kaback, Peipei Ping

Journal:

Journal of Molecular and Cellular Cardiology

Year:

2006

Language:

english

File:

PDF, 51 KB

english, 2006

32

Common HEXB polymorphisms reduce serum HexA and HexB enzymatic activities, potentially masking Tay-Sachs disease carrier identification

Hilary Vallance, Tara J. Morris, Marion Coulter-Mackie, Joyce Lim-Steele, Michael Kaback

Journal:

Molecular Genetics and Metabolism

Year:

2006

Language:

english

File:

PDF, 252 KB

english, 2006

33

Maimon M. Cohen: January 24, 1935, to January 25, 2007

Kurt Hirschhorn, Michael Kaback, David Rimoin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 67 KB

english, 2007

34

Clinico-pathological report: A 7-year old white-male boy with progressive neurological deterioration

Lewis A. Barness, Keith Henry, Pamela Kling, Renata Laxova, Michael Kaback, Enid Gilbert-Barness

Journal:

American Journal of Medical Genetics Part A

Year:

1991

Language:

english

File:

PDF, 1.06 MB

english, 1991

35

Type IV glycogen storage disease: Branching enzyme deficiency in skin fibroblasts and possible heterozygote detection

R. Rodney Howell, Michael M. Kaback, Barbara I. Brown

Journal:

The Journal of Pediatrics

Year:

1971

Language:

english

File:

PDF, 381 KB

english, 1971

36

Gm1-gangliosidosis type I: In utero detection and fetal manifestations

Michael M. Kaback, Howard R. Sloan, Marguerite Sonneborn, Robert M. Herndon, Alan K. Percy

Journal:

The Journal of Pediatrics

Year:

1973

Language:

english

File:

PDF, 938 KB

english, 1973

37

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in progressive muscular dystrophies

Mayana Zatz, Larry J. Shapiro, David S. Campion, Etsuko Oda, Michael M. Kaback

Journal:

Journal of the Neurological Sciences

Year:

1978

Language:

english

File:

PDF, 1.15 MB

english, 1978

38

Serum pyruvate-kinase (PK) and creatine-phosphokinase (CPK) in female relatives and patients with X-linked muscular dystrophies (Duchenne and Becker)

Mayana Zatz, Larry J. Shapiro, David S. Campion, Michael M. Kaback, Paulo A. Otto

Journal:

Journal of the Neurological Sciences

Year:

1980

Language:

english

File:

PDF, 750 KB

english, 1980

39

David L. Rimoin

Daniel H. Cohn, Larry J. Shapiro, Michael M. Kaback

Journal:

The American Journal of Human Genetics

Year:

2012

Language:

english

File:

PDF, 1.03 MB

english, 2012

40

Introductory Speech for David L. Rimoin

Journal:

The American Journal of Human Genetics

Year:

2007

Language:

english

File:

PDF, 8.15 MB

english, 2007

41

Population-based genetic screening for reproductive counseling: the Tay-Sachs disease model

Michael M. Kaback

Journal:

European Journal of Pediatrics

Year:

2000

Language:

english

File:

PDF, 66 KB

english, 2000

42

Chorionic villus sampling is associated with normal fetal growth

Williams, John, Medearis, Arnold L., Bear, Moraye B., Kaback, Michael M.

Journal:

American Journal of Obstetrics and Gynecology

Year:

1987

Language:

english

File:

PDF, 1.53 MB

english, 1987

43

Isolation of yeast histone genes H2A and H2B

Hereford, Lynna, Fahrner, Karen, Woolford, John, Rosbash, Michael, Kaback, David B.

Journal:

Year:

1979

Language:

english

File:

PDF, 10.46 MB

english, 1979

44

[Part 2: Biological Sciences] || Determination of Cellular RNA Concentrations by Electron Microscopy of R Loop-Containing DNA

David B. Kaback, Michael Rosbash and Norman Davidson

Journal:

Proceedings of the National Academy of Sciences

Year:

1981

Language:

english

File:

PDF, 1.54 MB

english, 1981

45

[Part 1: Biological Sciences] || Membrane Potential and Gentamicin Uptake in Staphylococcus aureus

Susan M. Mates, Edward S. Eisenberg, Laura J. Mandel, Lekha Patel, H. Ronald Kaback and Michael H. Miller

Journal:

Proceedings of the National Academy of Sciences

Year:

1982

Language:

english

File:

PDF, 960 KB

english, 1982

46

Molecular Basis of Adult-Onset and Chronic GM2Gangliosidoses in Patients of Ashkenazi Jewish Origin: Substitution of Serine for Glycine at Position 269 of the α -Subunit of β -hexosaminidase

Barry H. Paw, Michael M. Kaback and Elizabeth F. Neufeld

Journal:

Proceedings of the National Academy of Sciences

Year:

1989

Language:

english

File:

PDF, 1.17 MB

english, 1989

47

[Methods in Enzymology] Complex Carbohydrates Part B Volume 28 || [117] Thermal fractionation of serum hexosaminidases: Applications to heterozygote detection and diagnosis of Tay-Sach's disease

Kaback, Michael M.

Year:

1972

Language:

english

File:

PDF, 328 KB

english, 1972

48

Sequencing of chromosome I from Saccharomyces cerevisiae : analysis of a 32 kb region between the LTE1 and SPO7 genes

Ouellette, B. F. Francis, Clark, Michael W., Keng, Teresa, Storms, Reg K., Zhong, Wuwei, Zeng, Bin, Fortin, Nathalie, Delaney, Shawn, Barton, Arnold, Kaback, David B., Bussey, Howard

Journal:

Year:

1993

Language:

english

File:

PDF, 805 KB

english, 1993

49

Michael Kaback: people and places

Kaback, Michael M.

Journal:

Genetics in Medicine

Year:

2014

Language:

english

File:

PDF, 314 KB

english, 2014

50

Tay-Sachs Disease— Carrier Screening, Prenatal Diagnosis, and the Molecular Era

Kaback, Michael

Journal:

JAMA The Journal of the American Medical Association

Year:

1993

Language:

english

File:

PDF, 1.74 MB

english, 1993

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