Barbara Pober : rechercher sur Z-Library

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1

Altered body composition, lipedema, and decreased bone density in individuals with Williams syndrome: A preliminary report

Waxler, Jessica L., Guardino, Cara, Feinn, Richard S., Lee, Hang, Pober, Barbara R., Stanley, Takara L.

Journal:

European Journal of Medical Genetics

Année:

2017

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2017

2

GATA4 haploinsufficiency in patients with interstitial deletion of chromosome region 8p23.1 and congenital heart disease

Pehlivan, Tugce, Pober, Barbara R., Brueckner, Martina, Garrett, Stacey, Slaugh, Rachel, Van Rheeden, Richard, Wilson, David B., Watson, Michael S., Hing, Anne V.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 91 KB

english, 1999

3

Diagnosis and management of medical problems in adults with Williams–Beuren syndrome

Barbara R. Pober, Colleen A. Morris

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 188 KB

english, 2007

4

Clinical utility gene card for: Williams–Beuren Syndrome [7q11.23]

Koehler, Udo, Pabst, Brigitte, Pober, Barbara, Kozel, Beth

Journal:

European Journal of Human Genetics

Année:

2014

Langue:

english

Fichier:

PDF, 161 KB

english, 2014

5

Buspirone for the Treatment of Generalized Anxiety Disorder in Williams Syndrome: A Case Series

Thom, Robyn P., Keary, Christopher J., Waxler, Jessica L., Pober, Barbara R., McDougle, Christopher J.

Journal:

Journal of Autism and Developmental Disorders

Année:

2019

Langue:

english

Fichier:

PDF, 610 KB

english, 2019

6

Type III tracheal agenesis with familial tetralogy of Fallot and absent pulmonary value syndrome

Hirt-Armon, Kerri, Pober, Barbara R., Holmes, Lewis B.

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 366 KB

english, 1996

7

Familial dup(5)(q15q21) associated with normal and abnormal phenotypes

Li, Shuan-Yow, Gibson, Lisa H., Gomez, Kevin, Pober, Barbara R., Yang-Feng, Teresa L.

Journal:

American Journal of Medical Genetics

Année:

1998

Langue:

english

Fichier:

PDF, 84 KB

english, 1998

8

Elevated ambulatory blood pressure in 20 subjects with Williams syndrome

Broder, Karen, Reinhardt, Eric, Ahern, JoAnne, Lifton, Richard, Tamborlane, William, Pober, Barbara

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 86 KB

english, 1999

9

46,XX gonadal dysgenesis, short stature, and recurrent metabolic acidosis in two sisters

Fuki M. Hisama, Sharon Zemel, Elizabeth M. Cherniske, Georgirene D. Vladutiu, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 80 KB

english, 2001

10

Acrocallosal syndrome: New findings

John B. Moeschler, Barbara R. Pober, Lewis B. Holmes, John M. Graham Jr.

Journal:

American Journal of Medical Genetics Part A

Année:

1989

Langue:

english

Fichier:

PDF, 588 KB

english, 1989

11

Renal findings in 40 individuals with Williams syndrome

Barbara R. Pober, Ronald V. Lacro, Cynthia Rice, Valerie Mandell, Rita L. Teele

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 421 KB

english, 1993

12

Deletion of chromosome 2q24-q31 causes characteristic digital anomalies: Case report and review

Richard G. Boles, Barbara R. Pober, Lisa H. Gibson, Charla R. Willis, James McGrath, Drucilla J. Roberts, Teresa L. Yang-Feng

Journal:

American Journal of Medical Genetics Part A

Année:

1995

Langue:

english

Fichier:

PDF, 601 KB

english, 1995

13

FOXC1 gene deletion is associated with eye anomalies in ring chromosome 6

Hui Z. Zhang, Peining Li, Dongmei Wang, Shannon Huff, Manjunath Nimmakayalu, Mazin Qumsiyeh, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 187 KB

english, 2004

14

Multisystem study of 20 older adults with Williams syndrome

Elizabeth M. Cherniske, Thomas O. Carpenter, Cheryl Klaiman, Eytan Young, Joel Bregman, Karl Insogna, Robert T. Schultz, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 106 KB

english, 2004

15

Infants with Bochdalek diaphragmatic hernia: Sibling precurrence and monozygotic twin discordance in a hospital-based malformation surveillance program

Barbara R. Pober, Angela Lin, Meaghan Russell, Kate G. Ackerman, Sharmila Chakravorty, Bernarda Strauss, Marie Noel Westgate, Jay Wilson, Patricia K. Donahoe, Lewis B. Holmes

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 108 KB

english, 2005

16

Cardiovascular malformations in Fryns syndrome: Is there a pathogenic role for neural crest cells?

Angela E. Lin, Barbara R. Pober, Mary P. Mullen, Anne M. Slavotinek

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 111 KB

english, 2005

17

Karyotype–phenotype insights from 11q14.1-q23.2 interstitial deletions: FZD4 haploinsufficiency and exudative vitreoretinopathy in a patient with a complex chromosome rearrangement

Peining Li, Hui Z. Zhang, Shannon Huff, Manjunath Nimmakayalu, Mazin Qumsiyeh, Jingwei Yu, Anna Szekely, Tian Xu, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 303 KB

english, 2006

18

Donnai–Barrow syndrome (DBS/FOAR) in a child with a homozygous LRP2 mutation due to complete chromosome 2 paternal isodisomy

Sibel Kantarci, Nicola K. Ragge, N. Simon Thomas, David O. Robinson, Kristin M. Noonan, Meaghan K. Russell, Dian Donnai, F. Lucy Raymond, Christopher A. Walsh, Patricia K. Donahoe, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 225 KB

english, 2008

19

Pulmonary function and emphysema in Williams–Beuren syndrome

Emily S. Wan, Barbara R. Pober, George R. Washko, Benjamin A. Raby, Edwin K. Silverman

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 95 KB

english, 2010

20

Deletions of Xp provide evidence for the role of holocytochrome C-type synthase (HCCS) in congenital diaphragmatic hernia

Kanwal Qidwai, David M. Pearson, Gayle Simpson Patel, Barbara R. Pober, LaDonna L. Immken, Sau Wai Cheung, Daryl A. Scott

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 68 KB

english, 2010

21

Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

Barbara R. Pober

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 277 KB

english, 2007

22

Congenital diaphragmatic hernia and pulmonary hypoplasia: New insights from developmental biology and genetics

Kate G. Ackerman, Barbara R. Pober

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 179 KB

english, 2007

23

Congenital diaphragmatic hernia and associated cardiovascular malformations: Type, frequency, and impact on management

Angela E. Lin, Barbara R. Pober, Ian Adatia

Journal:

American Journal of Medical Genetics Part C: Seminars in Medical Genetics

Année:

2007

Langue:

english

Fichier:

PDF, 307 KB

english, 2007

24

Nutrient intakes in women and congenital diaphragmatic hernia in their offspring

Wei Yang, Gary M. Shaw, Suzan L. Carmichael, Sonja A. Rasmussen, D. Kim Waller, Barbara R. Pober, Marlene Anderka

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2008

Langue:

english

Fichier:

PDF, 100 KB

english, 2008

25

A review of Donnai-Barrow and facio-oculo-acoustico-renal (DB/FOAR) syndrome: Clinical features and differential diagnosis

Barbara R. Pober, Mauro Longoni, Kristin M. Noonan

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2009

Langue:

english

Fichier:

PDF, 85 KB

english, 2009

26

Maternal periconceptional exposure to cigarette smoking and alcohol consumption and congenital diaphragmatic hernia

Kristin M. Caspers, Cristiana Oltean, Paul A. Romitti, Lixian Sun, Barbara R. Pober, Sonja A. Rasmussen, Wei Yang, Charlotte Druschel, , the National Birth Defects Prevention Study

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2010

Langue:

english

Fichier:

PDF, 112 KB

english, 2010

27

A de novo satellited short arm of the Y chromosome possibly resulting from an unstable translocation

Chen-Li Lin, Lisa Gibson, Barbara Pober, Teresa L. Yang-Feng

Journal:

Année:

1995

Langue:

english

Fichier:

PDF, 838 KB

english, 1995

28

Functional analysis of a novel potassium channel (KCNA1) mutation in hereditary myokymia

Haijun Chen, Christian von Hehn, Leonard K. Kaczmarek, Laura R. Ment, Barbara R. Pober, Fuki M. Hisama

Journal:

Année:

2007

Langue:

english

Fichier:

PDF, 201 KB

english, 2007

29

10.1038/ng753

Osborne, Lucy R., Li, Martin, Pober, Barbara, Chitayat, David, Bodurtha, Joann, Mandel, Ariane, Costa, Teresa, Grebe, Theresa, Cox, Sarah, Tsui, Lap-Chee, Scherer, Stephen W.

Journal:

Nature Genetics

Année:

2001

Langue:

english

Fichier:

PDF, 1.68 MB

english, 2001

30

Smoking and pregnancy

Martha M. Werler, Barbara R. Pober, Lewis B. Holmes

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1985

Langue:

english

Fichier:

PDF, 886 KB

english, 1985

31

Chemical Dependency. P.D. Rogers (ed), Pediatric Clinics of North America, April 1987, Volume 34 #2, W. B. Saunders Co., Philadelphia, 193 pp., $27.50

Barbara H. Pober

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

1991

Langue:

english

Fichier:

PDF, 104 KB

english, 1991

32

Endothelial cell lymphocyte function-associated antigen-3 and an unidentified ligand act in concert to provide costimulation to human peripheral blood CD4+ T cells

Caroline O.S. Savage, Christopher C.W. Hughes, R.Blake Pepinsky, Barbara P. Wallner, Arnold S. Freedman, Jordan S. Pober

Journal:

Cellular Immunology

Année:

1991

Langue:

english

Fichier:

PDF, 973 KB

english, 1991

33

Identification and characterization of genetic hotspots and potential candidate genes for congenital diaphragmatic hernia by high density array comparative genomic hybridization

Kristin M. Noonan, Meaghan Russell, Rafael Pieretti VanMarcke, Mauro Longoni, Ann Furey, Russell W. Jennings, Jay M. Wilson, Barbara R. Pober, Charles Lee, Patricia K. Donahoe

Journal:

Journal of the American College of Surgeons

Année:

2008

Langue:

english

Fichier:

PDF, 111 KB

english, 2008

34

Medical overview and genetics of Williams-Beuren syndrome

Leslie Smoot, Hui Zhang, Cheryl Klaiman, Robert Schultz, Barbara Pober

Journal:

Progress in Pediatric Cardiology

Année:

2005

Langue:

english

Fichier:

PDF, 273 KB

english, 2005

35

Identification of Genes from a 500-kb Region at 7q11.23 That Is Commonly Deleted in Williams Syndrome Patients

Lucy R. Osborne, Duane Martindale, Stephen W. Scherer, Xiao-Mei Shi, Jack Huizenga, Henry H.Q. Heng, Teresa Costa, Barbara Pober, Lorelei Lew, Jacquelyn Brinkman, Johanna Rommens, Ben Koop, Lap-Chee T

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 236 KB

english, 1996

36

FACL4, a New Gene Encoding Long-Chain Acyl-CoA Synthetase 4, Is Deleted in a Family with Alport Syndrome, Elliptocytosis, and Mental Retardation

Monica Piccini, Francesca Vitelli, Mirella Bruttini, Barbara R. Pober, Jon J. Jonsson, Marcello Villanova, Massimo Zollo, Giuseppe Borsani, Andrea Ballabio, Alessandra Renieri

Journal:

Année:

1998

Langue:

english

Fichier:

PDF, 798 KB

english, 1998

37

Identification and Characterization of a Highly Conserved Protein Absent in the Alport Syndrome (A), Mental Retardation (M), Midface Hypoplasia (M), and Elliptocytosis (E) Contiguous Gene Deletion Syndrome (AMME)

Francesca Vitelli, Monica Piccini, Francesco Caroli, Brunella Franco, Alessandro Malandrini, Barbara Pober, Jon Jonsson, Vincenzo Sorrentino, Alessandra Renieri

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 165 KB

english, 1999

38

KCNE1-like Gene Is Deleted in AMME Contiguous Gene Syndrome: Identification and Characterization of the Human and Mouse Homologs

Monica Piccini, Francesca Vitelli, Marco Seri, Luis J.V. Galietta, Oscar Moran, Alessandro Bulfone, Sandro Banfi, Barbara Pober, Alessandra Renieri

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 346 KB

english, 1999

39

Association of Chiari I malformation and Williams syndrome

Barbara R. Pober, James J. Filiano

Journal:

Pediatric Neurology

Année:

1995

Langue:

english

Fichier:

PDF, 485 KB

english, 1995

40

Fetal stroke

Koray Özduman, Barbara R Pober, Patrick Barnes, Joshua A Copel, Eileen A Ogle, Charles C Duncan, Laura R Ment

Journal:

Pediatric Neurology

Année:

2004

Langue:

english

Fichier:

PDF, 215 KB

english, 2004

41

lschemic stroke and intracranial multifocal cerebral arteriopathy in Williams syndrome

Robert Soper, John C. Chaloupka, Pierre B. Fayad, John M. Greally, Bennett A. Shaywitz, Issam A. Awad, Barbara R. Pober

Journal:

The Journal of Pediatrics

Année:

1995

Langue:

english

Fichier:

PDF, 1.41 MB

english, 1995

42

Endothelial injury mediated by cytotoxic T lymphocytes and loss of microvessels in chronic graft versus host disease

Barbara C Biedermann, Silvia Sahner, Michael Gregor, Dimitrios A Tsakiris, Christina Jeanneret, Jordan S Pober, Alois Gratwohl

Journal:

Année:

2002

Langue:

english

Fichier:

PDF, 887 KB

english, 2002

43

Vascular cells have limited capacities to activate and differentiate T cells: Implications for transplant vascular sclerosis

Jordan S Pober, Weilie Ma, Barbara Biedermann, Peter Libby

Journal:

Transplant Immunology

Année:

1997

Langue:

english

Fichier:

PDF, 561 KB

english, 1997

44

Differences by sex in cardiovascular disease in Williams syndrome

Laurie S. Sadler, Barbara R. Pober, Andrew Grandinetti, Dóra Scheiber, György Fekete, Alok N. Sharma, Zsolt Urbán

Journal:

The Journal of Pediatrics

Année:

2001

Langue:

english

Fichier:

PDF, 90 KB

english, 2001

45

Hemizygous Deletion of the Syntaxin 1A Gene in Individuals with Williams Syndrome

LUCY R. OSBORNE, SYLVIA SODER, XIAO-MEI SHI, BARBARA POBER, TERESA COSTA, STEPHEN W. SCHERER, LAP-CHEE TSUI

Journal:

The American Journal of Human Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 84 KB

english, 1997

46

Genetic Counseling as a Tool for Type 2 Diabetes Prevention: A Genetic Counseling Framework for Common Polygenetic Disorders

Waxler, Jessica L., O’Brien, Kelsey E., Delahanty, Linda M., Meigs, James B., Florez, Jose C., Park, Elyse R., Pober, Barbara R., Grant, Richard W.

Journal:

Journal of Genetic Counseling

Année:

2012

Langue:

english

Fichier:

PDF, 419 KB

english, 2012

47

Isolated congenital renal tubular immaturity in siblings

Beth R. Schwartz, Janice M. Lage, Barbara R. Pober, Shirley G. Driscoll

Journal:

Human Pathology

Année:

1986

Langue:

english

Fichier:

PDF, 2.54 MB

english, 1986

48

Congenital Diaphragmatic Defects: Proposal for a New Classification Based on Observations in 234 Patients

Ackerman, Kate G., Vargas, Sara O., Wilson, Jay A., Jennings, Russell W., Kozakewich, Harry P.W., Pober, Barbara R.

Journal:

Pediatric and Developmental Pathology

Année:

2012

Langue:

english

Fichier:

PDF, 3.75 MB

english, 2012

49

Williams–Beuren Syndrome

Pober, Barbara R.

Journal:

Boston Medical and Surgical Journal

Année:

2010

Langue:

english

Fichier:

PDF, 636 KB

english, 2010

50

Genetics of Childhood Disorders: XXVII. Genes and Cognition in Williams Syndrome

OSBORNE, LUCY, POBER, BARBARA, Lombroso, Paul J.

Journal:

Journal of the American Academy of Child & Adolescent Psychiatry

Année:

2001

Langue:

english

Fichier:

PDF, 91 KB

english, 2001