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1

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Richards, Sue, Aziz, Nazneen, Bale, Sherri, Bick, David, Das, Soma, Gastier-Foster, Julie, Grody, Wayne W., Hegde, Madhuri, Lyon, Elaine, Spector, Elaine, Voelkerding, Karl, Rehm, Heidi L.

Journal:

Genetics in Medicine

Année:

2015

Langue:

english

Fichier:

PDF, 874 KB

english, 2015

2

The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, Curtis R., Swanson, Michael A., Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg,

Journal:

Genetics in Medicine

Année:

2017

Langue:

english

Fichier:

PDF, 1.22 MB

english, 2017

3

A new hypothesis of OCA1B

Pei-Wen Chiang, Joanne M. Drautz, Anne Chun-Hui Tsai, Elaine Spector, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 85 KB

english, 2008

4

Citrullinemia

Julian Leibowitz, Jess Thoene, Elaine Spector, William Nyhan

Journal:

Virchows Archiv

Année:

1978

Langue:

english

Fichier:

PDF, 2.94 MB

english, 1978

5

Technical standards and guidelines for reproductive screening in the Ashkenazi Jewish population

Monaghan, Kristin G, Feldman, Gerald L, Palomaki, Glenn E, Spector, Elaine B

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 454 KB

english, 2008

6

CORRIGENDUM: The genetic basis of classic nonketotic hyperglycinemia due to mutations in GLDC and AMT

Coughlin, Curtis R, Swanson, Michael A, Kronquist, Kathryn, Acquaviva, Cécile, Hutchin, Tim, Rodríguez-Pombo, Pilar, Väisänen, Marja-Leena, Spector, Elaine, Creadon-Swindell, Geralyn, Brás-Goldberg, A

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 49 KB

english, 2018

7

Further delineation of achondroplasia-hypochondroplasia complex with long-term survival

González-del Angel, Ariadna, Rius, Rocío, Alcántara-Ortigoza, Miguel A., Spector, Elaine, del Castillo, Victoria, Mata-García, Luis Enrique

Journal:

American Journal of Medical Genetics Part A

Année:

2018

Langue:

english

Fichier:

PDF, 656 KB

english, 2018

8

Venous thromboembolism laboratory testing (factor V Leiden and factor II c.*97G>A), 2018 update: a technical standard of the American College of Medical Genetics and Genomics (ACMG)

Zhang, Shulin, Taylor, Annette K., Huang, Xuan, Luo, Biao, Spector, Elaine B., Fang, Ping, Richards, C. Sue

Journal:

Genetics in Medicine

Année:

2018

Langue:

english

Fichier:

PDF, 356 KB

english, 2018

9

The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy

Coughlin, Curtis R., Swanson, Michael A., Spector, Elaine, Meeks, Naomi J. L., Kronquist, Kathryn E., Aslamy, Mezhgan, Wempe, Michael F., van Karnebeek, Clara D. M., Gospe, Sidney M., Aziz, Verena G.,

Journal:

Journal of Inherited Metabolic Disease

Année:

2019

Langue:

english

Fichier:

PDF, 1.42 MB

english, 2019

10

Evidence suggesting the inheritance mode of the human P gene in skin complexion is not strictly recessive

Pei-Wen Chiang, Elaine Spector, Anne Chun-Hui Tsai

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 144 KB

english, 2008

11

Synergistic interaction of the OCA2 and OCA3 genes in a family

Pei-Wen Chiang, Anne B. Fulton, Elaine Spector, Fuki M. Hisama

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 124 KB

english, 2008

12

A case of Asian Indian OCA3 patient

Pei-Wen Chiang, Elaine Spector, Angela Scheuerle

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 182 KB

english, 2009

13

Somatic and germ-line mosaicism in Rubinstein–Taybi syndrome

Pei-Wen Chiang, Ni-Chung Lee, Nancy Chien, Wuh-Liang Hwu, Elaine Spector, Anne Chun-Hui Tsai

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 297 KB

english, 2009

14

Oculocutaneous albinism spectrum

Pei-Wen Chiang, Elaine Spector, Anne Chun-Hui Tsai

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 55 KB

english, 2009

15

Evidence suggesting digenic inheritance of Waardenburg syndrome type II with ocular albinism

Pei-Wen Chiang, Elaine Spector, Tracy L. McGregor

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 231 KB

english, 2009

16

Genetic variation in the SMAD3 gene is associated with hip and knee osteoarthritis

Ana M. Valdes, Tim D. Spector, Agu Tamm, Kalle Kisand, Sally A. Doherty, Elaine M. Dennison, Massimo Mangino, Ann Tamm, Irina Kerna, Deborah J. Hart, Margaret Wheeler, Cyrus Cooper, Rik J. Lories, Nig

Journal:

Arthritis & Rheumatism

Année:

2010

Langue:

english

Fichier:

PDF, 179 KB

english, 2010

17

Reversion in expression of hypoxanthine-guanine phosphoribosyltransferase in 6-thioguanine resistant neuroblastoma: Evidence for reduced enzyme levels associated with unaltered catalytic activity

Stephen D. Skaper, Elaine B. Spector, J. Edwin Seegmiller

Journal:

Journal of Cellular Physiology

Année:

1977

Langue:

english

Fichier:

PDF, 664 KB

english, 1977

18

FMR1 gray-zone alleles: Association with Parkinson's disease in women?

Deborah A. Hall, Elizabeth Berry-Kravis, Wenting Zhang, Flora Tassone, Elaine Spector, Gary Zerbe, Paul J. Hagerman, Bichun Ouyang, Maureen A. Leehey

Journal:

Movement Disorders

Année:

2011

Langue:

english

Fichier:

PDF, 116 KB

english, 2011

19

Birthweight, vitamin D receptor genotype and the programming of osteoporosis

Elaine M. Dennison, Nigel K. Arden, Richard W. Keen, Holly Syddall, Ian N. M. Day, Timothy D. Spector, Cyrus Cooper

Journal:

Paediatric and Perinatal Epidemiology

Année:

2001

Langue:

english

Fichier:

PDF, 164 KB

english, 2001

20

Novel mutation causing Hermansky–Pudlak Syndrome Type 2

Pei-Wen Chiang, Elaine Spector, Martha Thomas, Melissa Frei-Jones

Journal:

Pediatric Blood & Cancer

Année:

2010

Langue:

english

Fichier:

PDF, 37 KB

english, 2010

21

Dystrophin protein and rflp analyis for fetal diagnosis and carrier confirmation of duchenne muscular dystrophy

William D. Boelter, Beth Ann Burt, Elaine B. Spector, David R. Hinton, Zdena Pavlova, Atsuko Fujimoto

Journal:

Prenatal Diagnosis

Année:

1990

Langue:

english

Fichier:

PDF, 896 KB

english, 1990

22

Regulation of expression of genes for enzymes of the mammalian urea cycle in permanent cell-culture lines of hepatic and non-hepatic origin

Donald F. Haggerty, Elaine B. Spector, Maureen Lynch, Rita Kern, Laura B. Frank, Stephen D. Cederbaum

Journal:

Molecular and Cellular Biochemistry

Année:

1983

Langue:

english

Fichier:

PDF, 1.64 MB

english, 1983

23

Differential expression of multiple forms of arginase in cultured cells

Elaine B. Spector, Rita M. Kern, Donald F. Haggerty, Stephen D. Cederbaum

Journal:

Molecular and Cellular Biochemistry

Année:

1985

Langue:

english

Fichier:

PDF, 670 KB

english, 1985

24

Argininosuccinate synthetase activity in cultured human lymphocytes

Oksana Lockridge, Elaine B. Spector, Arthur D. Bloom

Journal:

Biochemical Genetics

Année:

1977

Langue:

english

Fichier:

PDF, 655 KB

english, 1977

25

Citrulline metabolism in normal and citrullinemic human lymphocyte lines

Elaine B. Spector, Oksana Lockridge, Arthur D. Bloom

Journal:

Biochemical Genetics

Année:

1975

Langue:

english

Fichier:

PDF, 814 KB

english, 1975

26

The genotypic and phenotypic spectrum of pyridoxine-dependent epilepsy due to mutations inALDH7A1

Gunter Scharer, Chad Brocker, Vasilis Vasiliou, Geralyn Creadon-Swindell, Renata C. Gallagher, Elaine Spector, Johan L. K. Van Hove

Journal:

Journal of Inherited Metabolic Disease

Année:

2010

Langue:

english

Fichier:

PDF, 537 KB

english, 2010

27

Receptor expression, cytogenetic, and molecular analysis of six continuous human glioma cell lines

Carol A. Kruse, Marileila Varella-Garcia, Bette K. Kleinschmidt-Demasters, Geoffrey C. Owens, Elaine B. Spector, Habib Fakhrai, Elena Savelieva, Bertrand C. Liang

Journal:

In Vitro Cellular & Developmental Biology - Animal

Année:

1998

Langue:

english

Fichier:

PDF, 1.60 MB

english, 1998

28

Characterization of a continuous human glioma cell line DBTRG-05MG: growth kinetics, karyotype, receptor expression, and tumor suppressor gene analyses

Carol A. Kruse, Dawn H. Mitchell, Bette K. Kleinschmidt-DeMasters, Wilbur A. Franklin, Helvise G. Morse, Elaine B. Spector, Kevin O. Lillehei

Journal:

In Vitro Cellular & Developmental Biology - Animal

Année:

1992

Langue:

english

Fichier:

PDF, 795 KB

english, 1992

29

Purine reutilization and synthesis de novo in long-term human lymphocyte cell lines deficient in adenine phosphoribosyltransferase activity

Elaine B. Spector, Michael S. Hershfield, J. Edwin Seegmiller

Journal:

Somatic Cell and Molecular Genetics

Année:

1978

Langue:

english

Fichier:

PDF, 644 KB

english, 1978

30

Cloning of rat liver arginase cDNA and elucidation of regulation of arginase gene expression in H4 rat hepatoma cells

George J. Dizikes, Elaine B. Spector, Stephen D. Cederbaum

Journal:

Somatic Cell and Molecular Genetics

Année:

1986

Langue:

english

Fichier:

PDF, 1.19 MB

english, 1986

31

Assignment of Electron Transfer Flavoprotein-Ubiquinone Oxidoreductase (ETF-QO) to Human Chromosome 4q33 by Fluorescence in Situ Hybridization and Somatic Cell Hybridization

Elaine B. Spector, William K. Seltzer, Stephen I. Goodman

Journal:

Molecular Genetics and Metabolism

Année:

1999

Langue:

english

Fichier:

PDF, 140 KB

english, 1999

32

Microinjection of arginase into enzyme-deficient cells with the isolated glycoproteins of sendai virus as fusogen

Carol A. Kruse, Elaine B. Spector, Stephen D. Cederbaum, Bernadine J. Wisnieski, George Popják

Journal:

Biochimica et Biophysica Acta (BBA) - Biomembranes

Année:

1981

Langue:

english

Fichier:

PDF, 597 KB

english, 1981

33

Maternal glutaric acidemia, type I identified by newborn screening

Eric A. Crombez, Stephen D. Cederbaum, Elaine Spector, Erica Chan, Denise Salazar, Julie Neidich, Stephen Goodman

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 101 KB

english, 2008

34

Management of a patient with holocarboxylase synthetase deficiency

Johan L.K. Van Hove, Sagi Josefsberg, Cynthia Freehauf, Janet A. Thomas, Le Phuc Thuy, Bruce A. Barshop, Michael Woontner, Donald M. Mock, Pei-Wen Chiang, Elaine Spector, Iván Meneses-Morales, Rafael

Journal:

Molecular Genetics and Metabolism

Année:

2008

Langue:

english

Fichier:

PDF, 303 KB

english, 2008

35

Distinct Missense Mutations of the FGFR3 Lys650 Codon Modulate Receptor Kinase Activation and the Severity of the Skeletal Dysplasia Phenotype

Gary A. Bellus, Elaine B. Spector, Phyllis W. Speiser, Christine A. Weaver, Anthony T. Garber, Christine R. Bryke, Jamie Israel, Sally S. Rosengren, Melanie K. Webster, Daniel J. Donoghue, Clair A. Fr

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 1.07 MB

english, 2000

36

Alveolar soft part sarcoma: An unusually long interval between presentation and brain metastasis

Kevin O. Lillehel, Bette Kleinschmidt-DeMasters, Dawn H. Mitchell, Elaine Spector, Carol A. Kruse

Journal:

Human Pathology

Année:

1993

Langue:

english

Fichier:

PDF, 3.07 MB

english, 1993

37

ACMG Standards and Guidelines for fragile X testing: a revision to the disease-specific supplements to the Standards and Guidelines for Clinical Genetics Laboratories of the American College of Medical Genetics and Genomics

Monaghan, Kristin G., Lyon, Elaine, Spector, Elaine B.

Journal:

Genetics in Medicine

Année:

2013

Langue:

english

Fichier:

PDF, 727 KB

english, 2013

38

Technical Standards and Guidelines for Huntington Disease Testing

Potter, Nicholas T, Spector, Elaine B, Prior, Thomas W

Journal:

Genetics in Medicine

Année:

2004

Langue:

english

Fichier:

PDF, 326 KB

english, 2004

39

Technical standards and guidelines: Venous thromboembolism (Factor V Leiden and prothrombin 20210G>A testing): A disease-specific supplement to the standards and guidelines for clinical genetics laboratories

Spector, Elaine B, Grody, Wayne W, Matteson, Carla J, Palomaki, Glenn E, Bellissimo, Daniel B, Wolff, Daynna J, Bradley, Linda A, Prior, Thomas W, Feldman, Gerald, Popovich, Bradley W, Watson, Michael

Journal:

Genetics in Medicine

Année:

2005

Langue:

english

Fichier:

PDF, 298 KB

english, 2005

40

Subcellular location and differential antibody specificity of arginase in tissue culture and whole animals

Spector, Elaine B., Jenkinson, Christopher P., Grigor, Murray R., Kern, Rita M., Cederbaum, Stephen D.

Journal:

International Journal of Developmental Neuroscience

Année:

1994

Langue:

english

Fichier:

PDF, 549 KB

english, 1994

41

Novel ETF dehydrogenase mutations in a patient with mild glutaric aciduria type II and complex II-III deficiency in liver and muscle

Wolfe, Lynne A., He, Miao, Vockley, Jerry, Payne, Nicole, Rhead, William, Hoppel, Charles, Spector, Elaine, Gernert, Kim, Gibson, K. Michael

Journal:

Journal of Inherited Metabolic Disease

Année:

2010

Langue:

english

Fichier:

PDF, 321 KB

english, 2010

42

Characterization of a Continuous Human Glioma Cell Line Dbtrg-05MG: Growth Kinetics, Karyotype, Receptor Expression, and Tumor Suppressor Gene Analyses

Carol A. Kruse, Dawn H. Mitchell, Bette K. Kleinschmidt-DeMasters, Wilbur A. Franklin, Helvise G. Morse, Elaine B. Spector and Kevin O. Lillehei

Journal:

In Vitro Cellular & Developmental Biology

Année:

1992

Langue:

english

Fichier:

PDF, 843 KB

english, 1992

43

Osteophytes, Enthesophytes, and High Bone Mass: A Bone-Forming Triad With Potential Relevance in Osteoarthritis

Hardcastle, Sarah A., Dieppe, Paul, Gregson, Celia L., Arden, Nigel K., Spector, Tim D., Hart, Deborah J., Edwards, Mark H., Dennison, Elaine M., Cooper, Cyrus, Williams, Martin, Davey Smith, George,

Journal:

Arthritis & Rheumatology

Année:

2014

Langue:

english

Fichier:

PDF, 383 KB

english, 2014

44

A Controlled Trial of Intravenous Immune Globulin for the Prevention of Serious Bacterial Infections in Children Receiving Zidovudine for Advanced Human Immunodeficiency Virus Infection

Spector, Stephen A., Gelber, Richard D., McGrath, Nuala, Wara, Diane, Barzilai, Asher, Abrams, Elaine, Bryson, Yvonne J., Dankner, Wayne M., Livingston, Robert A., Connor, Edward M.

Journal:

Boston Medical and Surgical Journal

Année:

1994

Langue:

english

Fichier:

PDF, 1.90 MB

english, 1994

45

Familial Acanthosis Nigricans Due to K650T FGFR3 Mutation

Berk, David R., Spector, Elaine B., Bayliss, Susan J.

Journal:

Archives of Dermatology

Année:

2007

Langue:

english

Fichier:

PDF, 310 KB

english, 2007

46

DNA Diagnosis and Management of Hermansky-Pudlak Syndrome in Pregnancy

Wax, Joseph R., Rosengren, Sally, Spector, Elaine, Gainey, Andrea J., Ingardia, Charles J.

Journal:

American Journal of Perinatology

Année:

2001

Langue:

english

Fichier:

PDF, 43 KB

english, 2001

47

Neurodevelopmental Outcome and Treatment Efficacy of Benzoate and Dextromethorphan in Siblings with Attenuated Nonketotic Hyperglycinemia

Bjoraker, Kendra J., Swanson, Michael A., Coughlin, Curtis R., Christodoulou, John, Tan, Ee S., Fergeson, Mark, Dyack, Sarah, Ahmad, Ayesha, Friederich, Marisa W., Spector, Elaine B., Creadon-Swindell

Journal:

The Journal of Pediatrics

Année:

2016

Langue:

english

Fichier:

PDF, 226 KB

english, 2016

48

Clinical significance of tri-nucleotide repeats in Fragile X testing: A clarification of American College of Medical Genetics guidelines

Kronquist, Kathryn E, Sherman, Stephanie L, Spector, Elaine B

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 68 KB

english, 2008

49

NCSBN Simulation Guidelines for Prelicensure Nursing Programs

Alexander, Maryann, Durham, Carol F., Hooper, Janice I., Jeffries, Pamela R., Goldman, Nathan, Kardong-Edgren, Suzan “Suzie”, Kesten, Karen S., Spector, Nancy, Tagliareni, Elaine, Radtke, Beth, Tillma

Journal:

Journal of Nursing Regulation

Année:

2015

Langue:

english

Fichier:

PDF, 90 KB

english, 2015

50

Clinical Phenotype of Adult Fragile X Gray Zone Allele Carriers: a Case Series

Debrey, Sarah M., Leehey, Maureen A., Klepitskaya, Olga, Filley, Christopher M., Shah, Raj C., Kluger, Benzi, Berry-Kravis, Elizabeth, Spector, Elaine, Tassone, Flora, Hall, Deborah A.

Journal:

Année:

2016

Langue:

english

Fichier:

PDF, 442 KB

english, 2016