Scriver, Charles : rechercher sur Z-Library

Le plus grand référentiel d'articles scientifiques au monde. 70,000,000+ d'articles gratuitement.

Don't use scam websites

Livres
Articles (204)
Les plus populaires
Liste
- Liste
- Tableau

1

Every pediatrician a geneticist (1983): (With an evolutionary view of disease)

Charles R. Scriver

Journal:

Current Problems in Pediatric and Adolescent Health Care

Année:

1984

Langue:

english

Fichier:

PDF, 4.04 MB

english, 1984

2

Monogenic traits are not simple: lessons from phenylketonuria

Charles R. Scriver, Paula J. Waters

Journal:

Trends in Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 181 KB

english, 1999

3

Branched-chain alpha-keto acids isolated as oxime derivatives: Relationship to the corresponding hydroxy acids and amino acids in Maple Syrup Urine Disease

Gerald Lancaster, Orval A. Mamer, Charles R. Scriver

Journal:

Année:

1974

Langue:

english

Fichier:

PDF, 703 KB

english, 1974

4

Phenylketonuria: Epitome of Human Biochemical Genetics

Scriver, Charles R., Clow, Carol L.

Journal:

Boston Medical and Surgical Journal

Année:

1980

Langue:

english

Fichier:

PDF, 1.23 MB

english, 1980

5

Phenylketonuria: The Glutamine Hypothesis

Scriver, Charles R.

Journal:

Boston Medical and Surgical Journal

Année:

1970

Fichier:

PDF, 368 KB

1970

6

Management of Hereditary Metabolic Disease

Clow, Carol L., Reade, Terry M., Scriver, Charles R.

Journal:

Boston Medical and Surgical Journal

Année:

1971

Langue:

english

Fichier:

PDF, 1.02 MB

english, 1971

7

709 OUTCOME OF EARLY AND LONG-TERM MANAGEMENT OF CLASSICAL MAPLE SYRUP URINE DISEASE

Clow, Carol L, Reade, Theresa H, Scriver, Charles R

Journal:

Pediatric Research

Année:

1981

Langue:

english

Fichier:

PDF, 167 KB

english, 1981

8

Realities and virtual realities of inborn errors of metabolism: Biochemical genetics in the molecular genetic era

Scriver, Charles R.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 182 KB

english, 1997

9

Mutation nomenclature: Nicknames, systematic names, and unique identifiers

Ernest Beutler, Victor A. McKusick, Arno G. Motulsky, Charles R. Scriver, Franklin Hutchinson

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 356 KB

english, 1996

10

Probable identity by descent and discovery of familial relationships by means of a rare β-thalassemia haplotype

Tina Martino, Feige Kaplan, Stanley Diamond, Ariella Oppenheim, Charles R. Scriver

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 98 KB

english, 1997

11

Prediction of multiple hypermutable codons in the human PAH gene: Codon 280 contains recurrent mutations in Quebec and other populations

Susan Byck, Linda Tyfield, Kevin Carter, Charles R. Scriver

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 202 KB

english, 1997

12

In vitro expression analysis of mutations in phenylalanine hydroxylase: Linking genotype to phenotype and structure to function

Paula J. Waters, Michael A. Parniak, Piotr Nowacki, Charles R. Scriver

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 231 KB

english, 1998

13

Alterations in protein aggregation and degradation due to mild and severe missense mutations (A104D, R157N) in the human phenylalanine hydroxylase gene (PAH)

Paula J. Waters, Michael A. Parniak, A. Stacy Hewson, Charles R. Scriver

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 431 KB

english, 1998

14

Guidelines and recommendations for content, structure, and deployment of mutation databases: II. Journey in progress

Charles R. Scriver, Piotr M. Nowacki, Heikki Lehväslaiho

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 173 KB

english, 2000

15

PAHdb: A locus-specific knowledgebase

Charles R. Scriver, Paula J. Waters, Christineh Sarkissian, Shannon Ryan, Lynne Prevost, David Côté, Jaroslav Novak, Saeed Teebi, Piotr M. Nowacki

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 221 KB

english, 2000

16

The biology of death: Origins of mortality

Charles R. Scriver

Journal:

American Journal of Human Biology

Année:

2004

Langue:

english

Fichier:

PDF, 83 KB

english, 2004

17

Hypophosphatemic nonrachitic bone disease: An entity distinct from X-linked hypophosphatemia in the renal defect, bone involvement, and inheritance

Charles R. Scriver, Wendy MacDonald, Theresa Reade, Francis H. Glorieux, Bernadette Nogrady, J. M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1977

Langue:

english

Fichier:

PDF, 945 KB

english, 1977

18

Biochemical methods in medical genetics, S. Kelly, PhD, MD, American Lecture Series, Charles C Thomas, Springfield, Illinois, 1977, 345+xi pp. 28 illust., 14 in color, $17.50

Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1977

Langue:

english

Fichier:

PDF, 83 KB

english, 1977

19

Cystinuria genotypes predicted from excretion patterns

Sally Kelly, Charles E. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1978

Langue:

english

Fichier:

PDF, 820 KB

english, 1978

20

Niemann-pick disease: Prenatal diagnoses and studies of sphingomyelinase activities

Dr David A. Wenger, Candace Wharton, Martha Sattler, Cameron Clark, Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1978

Langue:

english

Fichier:

PDF, 727 KB

english, 1978

21

Isozymes: Current topics in biological and medical research, volumes 1 and 2. Mario C. Rattazzi, John G. Scandalios, and Gregory S. Whitt (eds). New York: Alan R. Liss, 1977, Vol 1, 204 pp, $16; Vol 2, 176 pp, $14

Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1979

Langue:

english

Fichier:

PDF, 101 KB

english, 1979

22

Panostotic fibrous dysplasia: A congenital disorder of bone with unusual facial appearance, bone fragility, hyperphosphatasemia, and hypophosphatemia

David E. C. Cole, F. Clarke Fraser, Francis H. Glorieux, Sigrid Jequier, Pierre J. Marie, Theresa M. Reade, Charles R. Scriver, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1983

Langue:

english

Fichier:

PDF, 706 KB

english, 1983

23

A private view of heterozygosity: Eight-year follow-up study on carriers of the Tay-Sachs gene detected by high school screening in montreal

Susan Zeesman, Carol L. Clow, Lola Cartier, Dr. Charles R. Scriver, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 636 KB

english, 1984

24

Genetic causes of chronic musculoskeletal disease in childhood are common

Diana Gregory, Paige Kaplan, Dr. Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 360 KB

english, 1984

25

The effect of Mendelian disease on human health: A measurement

Teresa Costa, Charles R. Scriver, Barton Childs, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1985

Langue:

english

Fichier:

PDF, 700 KB

english, 1985

26

The effect of Mendelian disease on human health. II: Response to treatment

Ailish Hayes, Teresa Costa, Dr. Charles R. Scriver, Barton Childs, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1985

Langue:

english

Fichier:

PDF, 700 KB

english, 1985

27

Audiometric evidence for two forms of X-linked hypophosphatemia in humans, apparent counterparts of Hyp and Gy mutations in mouse

Avihu Boneh, Theresa M. Reade, Dr. Charles R. Scriver, Ellen Rishikof, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 376 KB

english, 1987

28

Identification of deletion and triple α-globin gene haplotypes in the montreal β-thalassemia screening program: Implications for genetic medicine

Beverly R. Akerman, T. Mary Fujiwara, Gerald A. Lancaster, Kenneth Morgan, Dr. Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 853 KB

english, 1990

29

Detection of heterozygotes for recessive alleles. Homocyst(e)inemia: Paradigm of Pitfalls in phenotypes

James J. McGill, Gabrielle Mettler, David S. Rosenblatt, Dr. Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

1990

Langue:

english

Fichier:

PDF, 884 KB

english, 1990

30

Encomium to accompany “Of Mice and Children: Reminiscences of a Teratogeneticist”

Charles R. Scriver

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 35 KB

english, 2008

31

Cases are not incidence and Vice Versa

Charles R. Scriver

Journal:

Genetic Epidemiology

Année:

1988

Langue:

english

Fichier:

PDF, 519 KB

english, 1988

32

Specificity and sensitivity of hexosaminidase assays and DNA analysis for the detection of tay-sachs disease gene carriers among Ashkenazic Jews

Maria J. G. Fernandes, Feige Kaplan, Caroline L. Clow, Peter Hechtman, Charles R. Scriver, John. J. Mulvihill

Journal:

Genetic Epidemiology

Année:

1992

Langue:

english

Fichier:

PDF, 455 KB

english, 1992

33

PAHdb 2003: What a locus-specific knowledgebase can do

Charles R. Scriver, Mélanie Hurtubise, David Konecki, Manyphong Phommarinh, Lynne Prevost, Heidi Erlandsen, Ray Stevens, Paula J. Waters, Shannon Ryan, David McDonald, Christineh Sarkissian

Journal:

Année:

2003

Langue:

english

Fichier:

PDF, 295 KB

english, 2003

34

In vitro and in vivo correlations for I65T and M1V mutations at the phenylalanine hydroxylase locus

Simon W. M. John, Charles R. Scriver, Rachel Laframboise, Rima Rozen

Journal:

Année:

1992

Langue:

english

Fichier:

PDF, 635 KB

english, 1992

35

Molecular studies of mitochondrial acetoacetyl-coenzyme a thiolase deficiency in the two original families

Toshiyuki Fukao, Seiji Yamaguchi, Charles R. Scriver, Gail Dunbar, Akihiro Wakazono, Masatsugu Kano, Tadao Orii, Takashi Hashimoto

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 652 KB

english, 1993

36

The PAH gene, phenylketonuria, and a paradigm shift

Charles R. Scriver

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 303 KB

english, 2007

37

Quantitation of phenylalanine and its trans-cinnamic, benzoic and hippuric acid metabolites in biological fluids in a single GC-MS analysis

Christineh N. Sarkissian, Charles R. Scriver, Orval A. Mamer

Journal:

Journal of Mass Spectrometry

Année:

2007

Langue:

english

Fichier:

PDF, 270 KB

english, 2007

38

Neuroblastoma screening: The Canadian experience

Dr. Bernard Lemieux, Christiane Auray-Blais, Robert Giguére, Charles R. Scriver

Journal:

Pediatric Blood & Cancer

Année:

1989

Langue:

english

Fichier:

PDF, 284 KB

english, 1989

39

Measurement of Phenyllactate, Phenylacetate, and Phenylpyruvate by Negative Ion Chemical Ionization–Gas Chromatography/Mass Spectrometry in Brain of Mouse Genetic Models of Phenylketonuria and Non-Phenylketonuria Hyperphenylalaninemia

Christineh N. Sarkissian, Charles R. Scriver, Orval A. Mamer

Journal:

Analytical Biochemistry

Année:

2000

Langue:

english

Fichier:

PDF, 152 KB

english, 2000

40

Whatever happened to PKU?

Charles R. Scriver

Journal:

Clinical Biochemistry

Année:

1995

Fichier:

PDF, 792 KB

1995

41

X-Linked hypophosphatemia. A phenotype in search of a cause

Harriet S. Tenenhouse, Charles R. Scriver

Journal:

International Journal of Biochemistry

Année:

1992

Langue:

english

Fichier:

PDF, 897 KB

english, 1992

42

Microassay of inorganic sulfate in biological fluids by controlled flow anion chromatography

David E.C. Cole, Charles R. Scriver

Journal:

Journal of Chromatography B: Biomedical Sciences and Applications

Année:

1981

Langue:

english

Fichier:

PDF, 649 KB

english, 1981

43

Osteogenesis imperfecta: a heterogeneous morphologic phenotype in cultured dermal fibroblasts

Andrew P. Boright, Gerald A. Lancaster, Charles R. Scriver

Journal:

Année:

1984

Langue:

english

Fichier:

PDF, 620 KB

english, 1984

44

Repŕoduction demographique et transmission genetique dans le Nord-Est de la province de Quebec (18e–20e siecles)

Gérard Bouchard, Claude Laberge, Charles R. Scriver

Journal:

European Journal of Population/Revue européenne de Démographie

Année:

1988

Fichier:

PDF, 2.02 MB

1988

45

Book review

Charles R. Scriver

Journal:

Journal of Inherited Metabolic Disease

Année:

1985

Langue:

english

Fichier:

PDF, 187 KB

english, 1985

46

Garrod’s Croonian Lectures (1908) and the charter ‘Inborn Errors of Metabolism’: Albinism, alkaptonuria, cystinuria, and pentosuria at age 100 in 2008

Charles R. Scriver

Journal:

Journal of Inherited Metabolic Disease

Année:

2008

Langue:

english

Fichier:

PDF, 947 KB

english, 2008

47

Possible Locations for a Common Gene Product in Membrane Transport of Imino-acids and Glycine

SCRIVER, CHARLES R., WILSON, ONSLOW H.

Journal:

Année:

1964

Fichier:

PDF, 210 KB

1964

48

Glutamic Acid Decarboxylase and Gamma-aminobutyric Acid in Mammalian Kidney

WHELAN, DONALD T., SCRIVER, CHARLES R., MOHYUDDIN, FAZL

Journal:

Année:

1969

Fichier:

PDF, 249 KB

1969

49

Science's neglected legacy

Maurer, Stephen M., Firestone, Richard B., Scriver, Charles R.

Journal:

Année:

2000

Langue:

english

Fichier:

PDF, 216 KB

english, 2000

50

Genetic aspects of renal tubular transport: Diversity and topology of carriers

Scriver, Charles R, Chesney, Russell W, McInnes, Roderick R

Journal:

Kidney International

Année:

1976

Langue:

english

Fichier:

PDF, 2.09 MB

english, 1976