Howard-Peebles, Patricia N. : rechercher sur Z-Library

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1

Lack of association between mutation size and cognitive/behavior deficits in fragile X males: A brief report

Fisch, Gene S., Carpenter, Nancy, Howard-Peebles, Patricia N., Maddalena, Anne, Simensen, Richard, Tarleton, Jack, Julien-Inalsingh, Colin, Chalifoux, Maryse, Holden, Jeanette J. A.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 316 KB

english, 1996

2

The fragile X syndrome: Variability of expression in carrier females

Dr. Patricia N. Howard-Peebles, W. Ted Brown

Journal:

American Journal of Medical Genetics Part A

Année:

1988

Langue:

english

Fichier:

PDF, 156 KB

english, 1988

3

Policy Statement: American college of medical genetics. Fragile X Syndrome: Diagnostic and carrier testing

Vicki Park, Patricia Howard-Peebles, Stephanie Sherman, Annette Taylor, Eric Wulfsberg

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 227 KB

english, 1994

4

Molecular fragile X screening in normal populations

Spence, W. Christine, Black, Susan H., Fallon, Lee, Maddalena, Anne, Cummings, Emily, Menapace-Drew, Gianna, Bick, David P., Levinson, Gene, Schulman, Joseph D., Howard-Peebles, Patricia N.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 337 KB

english, 1996

5

Longitudinal study of cognitive abilities and adaptive behavior levels in fragile X males: A prospective multicenter analysis

Fisch, Gene S., Simensen, Richard, Tarleton, Jack, Chalifoux, Maryse, Holden, Jeanette J. A., Carpenter, Nancy, Howard-Peebles, Patricia N., Maddalena, Anne

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 656 KB

english, 1996

6

A fragile X mosaic male with a cryptic full mutation detected in epithelium but not in blood

Maddalena, Anne, Yadvish, Karen N., Spence, W. Christine, Howard-Peebles, Patricia N.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 492 KB

english, 1996

7

Longitudinal assessment of adaptive and maladaptive behaviors in fragile X males: Growth, development, and profiles

Fisch, Gene S., Carpenter, Nancy J., Holden, Jeanette J.A., Simensen, Richard, Howard-Peebles, Patricia N., Maddalena, Anne, Pandya, Arti, Nance, Walter

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 161 KB

english, 1999

8

Age-related language characteristics of children and adolescents with fragile X syndrome

Fisch, Gene S., Holden, Jeanette J.A., Carpenter, Nancy J., Howard-Peebles, Patricia N., Maddalena, Anne, Pandya, Arti, Nance, Walter

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 91 KB

english, 1999

9

Longitudinal changes in cognitive and adaptive behavior in fragile X females: A prospective multicenter analysis

Fisch, Gene S., Carpenter, Nancy, Holden, Jeanette J.A., Howard-Peebles, Patricia N., Maddalena, Anne, Borghgraef, Martine, Steyaert, Jean, Fryns, Jean-Pierre

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 107 KB

english, 1999

10

Isolated bilateral anophthalmia in a girl with an apparently balanced de novo translocation: 46,XX,t(3;11)(q27;p11.2)

Driggers, Rita W., Macri, Charles J., Greenwald, Jeffrey, Carpenter, David, Avallone, John, Howard-Peebles, Patricia N., Levin, Sondra W.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 108 KB

english, 1999

11

Characterization and clinical implications of marker chromosomes identified at prenatal diagnosis

Marilyn M. Li, Patricia N. Howard-Peebles, Lillian D. Killos, Lee Fallon, Eileen Listgarten, Wayne S. Stanley

Journal:

Prenatal Diagnosis

Année:

2000

Langue:

english

Fichier:

PDF, 111 KB

english, 2000

12

Fragile sites in human chromosomes II: Demonstration of the fragile site Xq27 in carriers of X-linked mental retardation

Dr. Patricia N. Howard-Peebles, John M. Optiz

Journal:

American Journal of Medical Genetics Part A

Année:

1980

Langue:

english

Fichier:

PDF, 288 KB

english, 1980

13

Marker X syndrome

Dr. Patricia N. Howard-Peebles, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1983

Langue:

english

Fichier:

PDF, 77 KB

english, 1983

14

Screening of mentally retarded males for macro-orchidism and the fragile X chromosome

Dr. Patricia N. Howard-Peebles, Wayne H. Finley, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1983

Langue:

english

Fichier:

PDF, 283 KB

english, 1983

15

On the nature of folic-acid-sensitive fragile sites in human chromosomes: An hypothesis

Carlos L. Krumdieck, Dr. Patricia N. Howard-Peebles, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1983

Langue:

english

Fichier:

PDF, 421 KB

english, 1983

16

X-linked mental retardation revisited

Dr. Patricia N. Howard-Peebles, Shearon F. Roberts, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 182 KB

english, 1984

17

Recombination between the fragile X and G6PD

Dr. Patricia N. Howard-Peebles, Andrew J. Carroll, John M. Opitz

Journal:

American Journal of Medical Genetics Part A

Année:

1984

Langue:

english

Fichier:

PDF, 86 KB

english, 1984

18

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

Kristine Bauer, Dr. Patricia N. Howard-Peebles, Doman Keele, J. M. Friedman, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1985

Langue:

english

Fichier:

PDF, 345 KB

english, 1985

19

Methionine metabolism and fragile X expression

Patricia N. Howard-Peebles, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 175 KB

english, 1986

20

Analysis of sister chromatid exchanges in fra(X) individuals

Paula Gregory, Nancy Wang, Patricia N. Howard-Peebles, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 153 KB

english, 1986

21

Inheritance of fragile X syndrome: An hypothesis

J. M. Friedman, Patricia N. Howard-Peebles, John M. Opitz, James F. Reynolds

Journal:

American Journal of Medical Genetics Part A

Année:

1986

Langue:

english

Fichier:

PDF, 587 KB

english, 1986

22

ReCAP: The registry of cytogenetic abnormalities and phenylketonuria

Dr. J. M. Friedman, Janet P. Smith, Barbara N. Lerner, Jean S. Helgeson, Patricia N. Howard-Peebles, Charles E. Mize, Susan G. Mize, William L. Singleton, M. Eileen Smith, John M. Opitz, James F. Reyn

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 660 KB

english, 1987

23

Aneuploidy and the fragile X syndrome

Michael S. Watson, W. Roy Breg, David Pauls, W. Ted Brown, Andrew J. Carroll, Patricia N. Howard-Peebles, David Meryash, Lawrence R. Shapiro

Journal:

American Journal of Medical Genetics Part A

Année:

1988

Langue:

english

Fichier:

PDF, 350 KB

english, 1988

24

Fragile X testing in mothers of transmitting males

Patricia Howard-Peebles, Ursula Froster-Iskenius

Journal:

American Journal of Medical Genetics Part A

Année:

1988

Langue:

english

Fichier:

PDF, 96 KB

english, 1988

25

Improved prenatal detection of fra(X)(q27.3): Methods for prevention of false negatives in chorionic villus and amniotic fluid cell cultures

Edmund C. Jenkins, Michael S. Krawczun, Sandra L. Stark-Houck, Charlotte J. Duncan, Suphat Kunaporn, Hong Gu, Carol Schwartz-Richstein, Patricia N. Howard-Peebles, Anne Gross, Stephanie L. Sherman, W.

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 534 KB

english, 1991

26

Fragile X expression: Use of a double induction system

Dr. Patricia N. Howard-Peebles

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 117 KB

english, 1991

27

Relationship between age and IQ among fragile X males: A multicenter study

Gene S. Fisch, Tadao Arinami, Ursula Froster-Iskenius, Jean-Pierre Fryns, L. M. Curfs, M. Borghgraef, Patricia N. Howard-Peebles, Charles E. Schwartz, Richard J. Simensen, Lawrence R. Shapiro

Journal:

American Journal of Medical Genetics Part A

Année:

1991

Langue:

english

Fichier:

PDF, 708 KB

english, 1991

28

Recent experience in prenatal diagnosis of fragile X

Dr. Patricia N. Howard-Peebles, Anne Maddalena

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 301 KB

english, 1992

29

Effect of dialyzed sera on fragile X expression

Patricia N. Howard-Peebles

Journal:

American Journal of Medical Genetics Part A

Année:

1992

Langue:

english

Fichier:

PDF, 73 KB

english, 1992

30

Is fragile X syndrome a pervasive developmental disability? Cognitive ability and adaptive behavior in males with the full mutation

Gene S. Fisch, Jeanette J. A. Holden, Richard Simensen, Nancy Carpenter, Patricia N. Howard-Peebles, Anne Maddalena, Alice Sandgrund, Jean-Robert Jacques, Barbara McGann

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 574 KB

english, 1994

31

Improved sizing of fragile X CCG repeats by nested polymerase chain reaction

Dr. Gene Levinson, Anne Maddalena, Frances T. Palmer, Gary L. Harton, David P. Bick, Patricia N. Howard-Peebles, Susan H. Black, Joseph D. Schulman

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 782 KB

english, 1994

32

Prenatal diagnosis in known fragile X carriers

Anne Maddalena, Belynda D. Hicks, W. Christine Spence, Gene Levinson, Patricia N. Howard-Peebles

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 724 KB

english, 1994

33

Mental retardation and Ullrich-Turner syndrome in cases with 45,X/46,X,+ mar: Additional support for the loss of the X-inactivation center hypothesis

Heath Cole, Bing Huang, Bonnie Anne Salbert, Judith Brown, Patricia N. Howard-Peebles, Susan H. Black, Andrew Dorfmann, Oscar R. Febles, Cathy A. Stevens, Colleen Jackson-Cook

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 990 KB

english, 1994

34

Fragile X screening: What is the real issue?

Dr. Patricia N. Howard-Peebles, Anne Maddalena, W. Christine Spence, Gene Levinson, Lee Fallon, David P. Bick, Susan H. Black, Joseph D. Schulman

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 78 KB

english, 1994

35

Successful pregnancy in a fragile X carrier by donor egg

Dr. Patricia N. Howard-Peebles

Journal:

American Journal of Medical Genetics Part A

Année:

1996

Langue:

english

Fichier:

PDF, 93 KB

english, 1996

36

Studies of age-correlated features of cognitive-behavioral development in children and adolescents with genetic disorders

Gene S. Fisch, Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J.A. Holden, Jack Tarleton, Richard Simensen, Walter Nance

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 312 KB

english, 2007

37

The course of cognitive-behavioral development in children with the FMR1 mutation, Williams–Beuren syndrome, and neurofibromatosis type 1: The effect of gender

Gene S. Fisch, Nancy Carpenter, Patricia N. Howard-Peebles, Jeanette J.A. Holden, Jack Tarleton, Richard Simensen

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 280 KB

english, 2010

38

Fetal karyotype following ascertainment of fetal anomalies by ultrasound

Catherine G. Palmer, Judith H. Miles, Patricia N. Howard-Peebles, R. Ellen Magenis, Shivanand Patil, Jan M. Friedman

Journal:

Prenatal Diagnosis

Année:

1987

Langue:

english

Fichier:

PDF, 307 KB

english, 1987

39

Characterization of seven DA/DAPI-positive bisatellited marker chromosomes by in situ hybridization

Rina Plattner, Nyla A. Heerema, Shivanand R. Patil, Patricia N. Howard-Peebles, Catherine G. Palmer

Journal:

Année:

1991

Langue:

english

Fichier:

PDF, 1.59 MB

english, 1991

40

Clinical findings in patients with marker chromosomes identified by fluorescence in situ hybridization

Rina Plattner, Nyla A. Heerema, Patricia N. Howard-Peebles, Judith H. Miles, Shirley Soukup, Catherine G. Palmer

Journal:

Année:

1993

Langue:

english

Fichier:

PDF, 1.17 MB

english, 1993

41

A satellited Yq chromosome associated with trisomy 21 and an inversion of chromosome 9

Patricia N. Howard-Peebles, Gayle R. Stoddard

Journal:

Année:

1976

Langue:

english

Fichier:

PDF, 265 KB

english, 1976

42

Familial pericentric inversion of chromosome 1 with a note on reproductive risks

Patricia N. Howard-Peebles

Journal:

Année:

1978

Langue:

english

Fichier:

PDF, 318 KB

english, 1978

43

Silver stain reveals nucleolus organizer regions on a satellited Yq chromosome

W. Mike Howell, Patricia N. Howard-Peebles, Barbara M. Block, Gayle R. Stoddard

Journal:

Année:

1978

Langue:

english

Fichier:

PDF, 323 KB

english, 1978

44

Autosomal lesions versus fragile sites

Patricia N. Howard-Peebles

Journal:

Année:

1984

Langue:

english

Fichier:

PDF, 58 KB

english, 1984

45

X-linked mental retardation with macro-orchidism and marker X chromosomes

Patricia N. Howard-Peebles, Gayle R. Stoddard

Journal:

Année:

1979

Langue:

english

Fichier:

PDF, 409 KB

english, 1979

46

The parental origin and mechanism of formation of three dicentric X chromosomes

Mary C. Phelan, Leonard A. Prouty, Roger E. Stevenson, Patricia N. Howard-Peebles, David C. Page, Charles E. Schwartz

Journal:

Année:

1988

Langue:

english

Fichier:

PDF, 743 KB

english, 1988

47

Mutations in SOX2 cause anophthalmia

Fantes, Judy, Ragge, Nicola K., Lynch, Sally-Ann, McGill, Niolette I., Collin, J. Richard O., Howard-Peebles, Patricia N., Hayward, Caroline, Vivian, Anthony J., Williamson, Kathy, van Heyningen, Vero

Journal:

Nature Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 217 KB

english, 2003

48

NON-SPECIFIC X-LINKED MENTAL RETARDATION: BACKGROUND, TYPES, DIAGNOSIS AND PREVALENCE

Patricia N. Howard-Peebles

Journal:

Journal of Intellectual Disability Research

Année:

1982

Langue:

english

Fichier:

PDF, 2.64 MB

english, 1982

49

Survey of the Fragile X Syndrome CGG Repeat and the Short-Tandem-Repeat and Single-Nucleotide-Polymorphism Haplotypes in an African American Population

Dana C. Crawford, Charles E. Schwartz, Kellen L. Meadows, James L. Newman, Lisa F. Taft, Chris Gunter, W. Ted Brown, Nancy J. Carpenter, Patricia N. Howard-Peebles, Kristin G. Monaghan, Sarah L. Nolin

Journal:

The American Journal of Human Genetics

Année:

2000

Langue:

english

Fichier:

PDF, 413 KB

english, 2000

50

Childhood chronic lymphocytic leukemia with t(2; 14) translocation

Galina Yoffe, Patricia N. Howard-Peebles, R. Graham Smith, Philip W. Tucker, George R. Buchanan

Journal:

The Journal of Pediatrics

Année:

1990

Langue:

english

Fichier:

PDF, 946 KB

english, 1990