Elizabeth Goldmuntz : rechercher sur Z-Library

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1

Microdeletions and Microduplications in Patients with Congenital Heart Disease and Multiple Congenital Anomalies

Elizabeth Goldmuntz, Prasuna Paluru, Joseph Glessner, Hakon Hakonarson, Jaclyn A. Biegel, Peter S. White, Xiaowu Gai, Tamim H. Shaikh

Journal:

Congenital Heart Disease

Année:

2011

Langue:

english

Fichier:

PDF, 413 KB

english, 2011

2

Jagged1 mutations in patients ascertained with isolated congenital heart defects

Krantz, Ian D., Smith, Rosemarie, Colliton, Ray P., Tinkel, Hilary, Zackai, Elaine H., Piccoli, David A., Goldmuntz, Elizabeth, Spinner, Nancy B.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 2.51 MB

english, 1999

3

Cognitive and behavior profile of preschool children with chromosome 22q11.2 deletion

Gerdes, Marsha, Solot, Cynthia, Wang, Paul P., Moss, Edward, LaRossa, Don, Randall, Peter, Goldmuntz, Elizabeth, Clark, Bernard J., Driscoll, Deborah A., Jawad, Abbas, Emanuel, Beverly S., McDonald-Mc

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 76 KB

english, 1999

4

Correlation between abnormal cardiac physical examination and echocardiographic findings in neonates with Down syndrome

Doff B. McElhinney, Michele Straka, Elizabeth Goldmuntz, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Année:

2002

Langue:

english

Fichier:

PDF, 48 KB

english, 2002

5

DiGeorge anomaly with renal agenesis in infants of mothers with diabetes

Thomas A. Wilson, Sandra L. Blethen, Ambrose Vallone, D. Scott Alenick, Patricia Nolan, Arnold Katz, Thomas P. Amorillo, Elizabeth Goldmuntz, Beverly S. Emanuel, Deborah A. Driscoll

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 477 KB

english, 1993

6

The 22q11.2 deletion in African-American patients: An underdiagnosed population?

Donna M. McDonald-McGinn, Nancy Minugh-Purvis, Richard E. Kirschner, Abbas Jawad, Melissa K. Tonnesen, Jason R. Catanzaro, Elizabeth Goldmuntz, Deborah Driscoll, Don LaRossa, Beverly S. Emanuel, Elain

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 180 KB

english, 2005

7

Aortic root dilation in patients with 22q11.2 deletion syndrome

Anitha S. John, Donna M. McDonald-McGinn, Elaine H. Zackai, Elizabeth Goldmuntz

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 77 KB

english, 2009

8

Evaluation of potential modifiers of the cardiac phenotype in the 22q11.2 deletion syndrome

Elizabeth Goldmuntz, Deborah A. Driscoll, Beverly S. Emanuel, Donna McDonald-McGinn, Minghua Mei, Elaine Zackai, Laura E. Mitchell

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2009

Langue:

english

Fichier:

PDF, 76 KB

english, 2009

9

Variants of folate metabolism genes and risk of left-sided cardiac defects

Laura E. Mitchell, Jin Long, Jennifer Garbarini, Prasuna Paluru, Elizabeth Goldmuntz

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2010

Langue:

english

Fichier:

PDF, 87 KB

english, 2010

10

NAT1,NOS3, and TYMS genotypes and the risk of conotruncal cardiac defects

Philip J. Lupo, Laura E. Mitchell, Elizabeth Goldmuntz

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2011

Langue:

english

Fichier:

PDF, 86 KB

english, 2011

11

Evaluation of heterogeneity in the association between congenital heart defects and variants of folate metabolism genes: Conotruncal and left-sided cardiac defects

Jin Long, Philip J. Lupo, Elizabeth Goldmuntz, Laura E. Mitchell

Journal:

Birth Defects Research Part A: Clinical and Molecular Teratology

Année:

2011

Langue:

english

Fichier:

PDF, 93 KB

english, 2011

12

Features of alagille syndrome in 92 patients: Frequency and relation to prognosis

Karan M. Emerick, Elizabeth B. Rand, Elizabeth Goldmuntz, Ian D. Krantz, Nancy B. Spinner, David A. Piccoli

Journal:

Année:

1999

Langue:

english

Fichier:

PDF, 168 KB

english, 1999

13

Mutational analysis of thePITX2coding region revealed no common cause for transposition of the great arteries (dTGA)

Nadja Muncke, Beate Niesler, Ralph Roeth, Karin Schön, Heinz-Juergen Rüdiger, Elizabeth Goldmuntz, Judith Goodship, Gudrun Rappold

Journal:

BMC Medical Genetics

Année:

2005

Langue:

english

Fichier:

PDF, 692 KB

english, 2005

14

Late effects in survivors of tandem peripheral blood stem cell transplant for high-risk neuroblastoma

Wendy L. Hobbie, Thomas Moshang, Claire A. Carlson, Elizabeth Goldmuntz, Nancy Sacks, Samuel B. Goldfarb, Stephan A. Grupp, Jill P. Ginsberg

Journal:

Pediatric Blood & Cancer

Année:

2008

Langue:

english

Fichier:

PDF, 78 KB

english, 2008

15

Genetic counseling for congenital heart disease: New approaches for a new decade

Katy Hoess, Elizabeth Goldmuntz, Reed E. Pyeritz

Journal:

Current Cardiology Reports

Année:

2002

Langue:

english

Fichier:

PDF, 356 KB

english, 2002

16

Reduced NODAL Signaling Strength via Mutation of Several Pathway Members Including FOXH1 Is Linked to Human Heart Defects and Holoprosencephaly

Erich Roessler, Maia V. Ouspenskaia, Jayaprakash D. Karkera, Jorge I. Vélez, Amy Kantipong, Felicitas Lacbawan, Peter Bowers, John W. Belmont, Jeffrey A. Towbin, Elizabeth Goldmuntz, Benjamin Feldman,

Journal:

The American Journal of Human Genetics

Année:

2008

Langue:

english

Fichier:

PDF, 2.50 MB

english, 2008

17

Cardiac Magnetic Resonance Imaging for Accurate Diagnosis of Aortic Arch Anomalies in Patients with 22q11.2 Deletion

Tiffanie R. Johnson, Elizabeth Goldmuntz, Donna M. McDonald-McGinn, Elaine H. Zackai, Mark A. Fogel

Journal:

The American Journal of Cardiology

Année:

2005

Langue:

english

Fichier:

PDF, 286 KB

english, 2005

18

Association between cardiac tumors and tuberous sclerosis in the fetus and neonate

Wayne Tworetzky, Doff B. McElhinney, Rene Margossian, Anita J. Moon-Grady, Denver Sallee, Elizabeth Goldmuntz, Mary E. van der Velde, Norman H. Silverman, Lindsay D. Allan

Journal:

The American Journal of Cardiology

Année:

2003

Langue:

english

Fichier:

PDF, 80 KB

english, 2003

19

Comparison of Patterns of Pulmonary Venous Blood Flow in the Functional Single Ventricle Heart After Operative Aortopulmonary Shunt Versus Superior Cavopulmonary Shunt

Jack Rychik MD, Mark A Fogel MD, Mary T Donofrio MD, Elizabeth Goldmuntz MD, Meryl S Cohen MD, Thomas L Spray MD, Marshall L Jacobs MD

Journal:

The American Journal of Cardiology

Année:

1997

Langue:

english

Fichier:

PDF, 526 KB

english, 1997

20

Congenital heart disease in Cornelia de Lange syndrome: Phenotype and genotype analysis

Kathryn C. Chatfield, Samantha A. Schrier, Jennifer Li, Dinah Clark, Maninder Kaur, Antonie D. Kline, Matthew A. Deardorff, Laird S. Jackson, Elizabeth Goldmuntz, Ian D. Krantz

Journal:

American Journal of Medical Genetics Part A

Année:

2012

Langue:

english

Fichier:

PDF, 124 KB

english, 2012

21

Cloning, Genomic Organization, and Chromosomal Localization of Human Citrate Transport Protein to the DiGeorge/Velocardiofacial Syndrome Minimal Critical Region

Elizabeth Goldmuntz, Zhili Wang, Bruce A. Roe, Marcia L. Budarf

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 112 KB

english, 1996

22

Regional Localization of over 300 Loci on Human Chromosome 22 Using a Somatic Cell Hybrid Mapping Panel

Marcia L. Budarf, Barbara Eckman, Dominique Michaud, Terrence McDonald, Stacey Gavigan, Kenneth H. Buetow, Yvonne Tatsumura, Zonglu Liu, Catherine Hilliard, Deborah Driscoll, Elizabeth Goldmuntz, Ecka

Journal:

Année:

1996

Langue:

english

Fichier:

PDF, 567 KB

english, 1996

23

Spectrum of heart disease associated with murine and human GATA4 mutation

Satish K. Rajagopal, Qing Ma, Dita Obler, Jie Shen, Ani Manichaikul, Aoy Tomita-Mitchell, Kari Boardman, Christine Briggs, Vidu Garg, Deepak Srivastava, Elizabeth Goldmuntz, Karl W. Broman, D. Woodrow

Journal:

Journal of Molecular and Cellular Cardiology

Année:

2007

Langue:

english

Fichier:

PDF, 1.15 MB

english, 2007

24

Chromosomal and cardiovascular anomalies associated with congenital laryngeal web

Doff B McElhinney, Ian Jacobs, Donna M McDonald-McGinn, Elaine H Zackai, Elizabeth Goldmuntz

Journal:

International Journal of Pediatric Otorhinolaryngology

Année:

2002

Langue:

english

Fichier:

PDF, 86 KB

english, 2002

25

Molecular characterization of a serine/threonine kinase in the DiGeorge minimal critical region

Elizabeth Goldmuntz, Jason Fedon, Bruce Roe, Marcia L Budarf

Journal:

Année:

1997

Langue:

english

Fichier:

PDF, 227 KB

english, 1997

26

CFC1 Mutations in Patients with Transposition of the Great Arteries and Double-Outlet Right Ventricle

Elizabeth Goldmuntz, Richard Bamford, Jayaprakash D. Karkera, June dela Cruz, Erich Roessler, Maximilian Muenke

Journal:

The American Journal of Human Genetics

Année:

2002

Langue:

english

Fichier:

PDF, 407 KB

english, 2002

27

Missense Mutations in CRELD1 Are Associated with Cardiac Atrioventricular Septal Defects

Susan W. Robinson, Cynthia D. Morris, Elizabeth Goldmuntz, Mark D. Reller, Melanie A. Jones, Robert D. Steiner, Cheryl L. Maslen

Journal:

The American Journal of Human Genetics

Année:

2003

Langue:

english

Fichier:

PDF, 368 KB

english, 2003

28

VORTEX FLOW FORMATION IN PATIENTS AFTER TETRALOGY OF FALLOT REPAIR WITH PULMONARY REGURGITATION UTILIZING 3-DIMENSIONAL PHASE ENCODED VELOCITY MAPPING - A CLUE TO POWER LOSS, POOR EXERCISE PERFORMANCE AND BETTER SURGERY

Mark A. Fogel, Kartik Sundareswaran, Matthew Harris, Elizabeth Goldmuntz, Ajit Yoganathan

Journal:

Journal of the American College of Cardiology

Année:

2010

Langue:

english

Fichier:

PDF, 693 KB

english, 2010

29

Frequency of 22q11 deletions in patients with conotruncal defects

Elizabeth Goldmuntz, Bernard J Clark, Laura E Mitchell, Abbas F Jawad, Bettina F Cuneo, Lori Reed, Donna McDonald-McGinn, Peggy Chien, Jennifer Feuer, Elaine H Zackai, Beverly S Emanuel, Deborah A Dri

Journal:

Journal of the American College of Cardiology

Année:

1998

Langue:

english

Fichier:

PDF, 80 KB

english, 1998

30

A family with a complex clinical presentation characterized by arrhythmogenic right ventricular dysplasia/cardiomyopathy and features of branchio-oculo-facial syndrome

Murray, Brittney, Wagle, Rohan, Amat-Alarcon, Nuria, Wilkens, Alisha, Stephens, Paul, Zackai, Elaine H., Goldmuntz, Elizabeth, Calkins, Hugh, Deardorff, Matthew A., Judge, Daniel P.

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 238 KB

english, 2013

31

NKX2.5 mutations in patients with congenital heart disease

Doff B. McElhinney, Elizabeth Geiger, Joshua Blinder, D. Woodrow Benson, Elizabeth Goldmuntz

Journal:

Journal of the American College of Cardiology

Année:

2003

Langue:

english

Fichier:

PDF, 123 KB

english, 2003

32

Differential Branch Pulmonary Artery Regurgitant Fraction Is a Function of Differential Pulmonary Arterial Anatomy and Pulmonary Vascular Resistance

Matthew A. Harris, Kevin K. Whitehead, Matthew J. Gillespie, Timothy Y. Liu, Michael T. Cosulich, David C. Shin, Elizabeth Goldmuntz, Paul M. Weinberg, Mark A. Fogel

Journal:

Journal of the American College of Cardiology: Cardiovascular Imaging

Année:

2011

Langue:

english

Fichier:

PDF, 780 KB

english, 2011

33

Association of chromosome 22q11 deletion with isolated anomalies of aortic arch laterality and branching

Doff B McElhinney, Bernard J Clark III, Paul M Weinberg, Maura L Kenton, Donna McDonald-McGinn, Deborah A Driscoll, Elaine H Zackai, Elizabeth Goldmuntz

Journal:

Journal of the American College of Cardiology

Année:

2001

Langue:

english

Fichier:

PDF, 218 KB

english, 2001

34

Adults with genetic syndromes and cardiovascular abnormalities: clinical history and management

Lin, Angela E, Basson, Craig T, Goldmuntz, Elizabeth, Magoulas, Pilar L, McDermott, Deborah A, McDonald-McGinn, Donna M, McPherson, Elspeth, Morris, Colleen A, Noonan, Jacqueline, Nowak, Catherine, Pi

Journal:

Genetics in Medicine

Année:

2008

Langue:

english

Fichier:

PDF, 1.10 MB

english, 2008

35

22q11.2 Deletions in Patients with Conotruncal Defects: Data from 1,610 Consecutive Cases

Peyvandi, Shabnam, Lupo, Philip J., Garbarini, Jennifer, Woyciechowski, Stacy, Edman, Sharon, Emanuel, Beverly S., Mitchell, Laura E., Goldmuntz, Elizabeth

Journal:

Pediatric Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 224 KB

english, 2013

36

Morbidity in Children and Adolescents After Surgical Correction of Interrupted Aortic Arch

O’Byrne, Michael L., Mercer-Rosa, Laura, Zhao, Huaqing, Zhang, Xuemei, Yang, Wei, Tanel, Ronn E., Marino, Bradley S., Cassedy, Amy, Fogel, Mark A., Rychik, Jack, Paridon, Stephen, Goldmuntz, Elizabeth

Journal:

Pediatric Cardiology

Année:

2014

Langue:

english

Fichier:

PDF, 177 KB

english, 2014

37

Risk of congenital heart disease in relatives of probands with conotruncal cardiac defects: An evaluation of 1,620 families

Peyvandi, Shabnam, Ingall, Eitan, Woyciechowski, Stacy, Garbarini, Jennifer, Mitchell, Laura E., Goldmuntz, Elizabeth

Journal:

American Journal of Medical Genetics Part A

Année:

2014

Langue:

english

Fichier:

PDF, 99 KB

english, 2014

38

Transesophageal echocardiographic evaluation of pulmonary venous flow patterns in the single ventricle heart

Rychik, Jack, Fogel, Mark A., Donofrio, Mary T., Goldmuntz, Elizabeth, Vetter, Jane M., Jacobs, Marshall L.

Journal:

Journal of the American Society of Echocardiography

Année:

1995

Langue:

english

Fichier:

PDF, 135 KB

english, 1995

39

Morbidity in children and adolescents after surgical correction of truncus arteriosus communis

O'Byrne, Michael L., Mercer-Rosa, Laura, Zhao, Huaqing, Zhang, Xuemei, Yang, Wei, Cassedy, Amy, Fogel, Mark A., Rychik, Jack, Tanel, Ronn E., Marino, Bradley S., Paridon, Stephen, Goldmuntz, Elizabeth

Journal:

American Heart Journal

Année:

2013

Langue:

english

Fichier:

PDF, 162 KB

english, 2013

40

ERRATA.—

O’Byrne, Michael L., Yang, Wei, Mercer-Rosa, Laura, Parnell, Aimee S., Oster, Matthew E., Levenbrown, Yosef, Tanel, Ronn E., Goldmuntz, Elizabeth

Journal:

Année:

1831

Langue:

english

Fichier:

PDF, 109 KB

english, 1831

41

22q11.2 Deletion syndrome is associated with increased perioperative events and more complicated postoperative course in infants undergoing infant operative correction of truncus arteriosus communis or interrupted aortic arch

O’Byrne, Michael L., Yang, Wei, Mercer-Rosa, Laura, Parnell, Aimee S., Oster, Matthew E., Levenbrown, Yosef, Tanel, Ronn E., Goldmuntz, Elizabeth

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Année:

2014

Langue:

english

Fichier:

PDF, 240 KB

english, 2014

42

INTERMEDIATE TERM OUTCOMES IN PATIENTS WITH INTERRUPTED AORTIC ARCH

O'Byrne, Michael, Mercer-Rosa, Laura, Zhao, Huaqing, Zhang, Xuemei, Tanel, Ronn, Marino, Bradley, Cassedy, Amy, Fogel, Mark, Rychik, Jack, Yang, Wei, Paridon, Stephen, Goldmuntz, Elizabeth

Journal:

Journal of the American College of Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 145 KB

english, 2013

43

RIGHT VENTRICULAR RESTRICTIVE PHYSIOLOGY IS ASSOCIATED WITH EXERCISE PERFORMANCE AND PULMONARY INSUFFICIENCY: A CROSS SECTIONAL STUDY OF ECHOCARDIOGRAM, CARDIAC MAGNETIC RESONANCE AND EXERCISE PERFORMANCE IN REPAIRED TETRALOGY OF FALLOT

Mercer-Rosa, Laura, Fogel, Mark, Paridon, Stephen, Rychik, Jack, Yang, Wei, Goldmuntz, Elizabeth

Journal:

Journal of the American College of Cardiology

Année:

2014

Langue:

english

Fichier:

PDF, 235 KB

english, 2014

44

22q11.2 Deletion syndrome is associated with perioperative outcome in tetralogy of Fallot

Mercer-Rosa, Laura, Pinto, Nelangi, Yang, Wei, Tanel, Ronn, Goldmuntz, Elizabeth

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Année:

2013

Langue:

english

Fichier:

PDF, 84 KB

english, 2013

45

VARIABLE INTERMEDIATE OUTCOME IN TOF IS EXPLAINED IN PART BY 22Q11.2 DELETION STATUS

Mercer-Rosa, Laura, Fogel, Mark, Paridon, Stephen, Rychik, Jack, Tanel, Ronn, Yang, Wei, Zhao, Huaqing, Goldmuntz, Elizabeth

Journal:

Journal of the American College of Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 145 KB

english, 2013

46

ABNORMALITIES IN BONE DENSITY, BONE STRUCTURE AND MUSCLE CROSS-SECTIONAL AREA AFTER FONTAN PALLIATION

Avitabile, Catherine, Brodsky, Jill, Leonard, Mary B., Dodds, Kathryn, Rush, Christina H., Goldmuntz, Elizabeth, Rychik, Jack, Goldberg, David

Journal:

Journal of the American College of Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 145 KB

english, 2013

47

The genetic contribution to congenital heart disease

Goldmuntz, Elizabeth

Journal:

Pediatric Clinics of North America

Année:

2004

Langue:

english

Fichier:

PDF, 223 KB

english, 2004

48

Evaluating the role of connexin43 in congenital heart disease: Screening for mutations in patients with outflow tract anomalies and the analysis of knock-in mouse models

Huang, Guo-Ying, Xie, Li-Jian, Linask, Kaari L., Zhang, Chen, Zhao, Xiao-Qing, Yang, Y.i., Zhou, Guo-Min, Wu, Ying-Jie, Marquez-Rosado, Lucrecia, McElhinney, Doff B., Goldmuntz, Elizabeth, Liu, Chengy

Journal:

Journal of Cardiovascular Disease Research

Année:

2011

Langue:

english

Fichier:

PDF, 384 KB

english, 2011

49

RISK OF CONGENITAL HEART DISEASE IN RELATIVES OF PROBANDS WITH CONOTRUNCAL CARDIAC DEFECTS: AN EVALUATION OF 1622 FAMILIES

Peyvandi, Shabnam, Ingall, Eitan, Woyciechowski, Stacy, Garbarini, Jennifer, Mitchell, Laura E., Goldmuntz, Elizabeth

Journal:

Journal of the American College of Cardiology

Année:

2013

Langue:

english

Fichier:

PDF, 146 KB

english, 2013

50

DiGeorge Syndrome: New Insights

Goldmuntz, Elizabeth

Journal:

Clinics in Perinatology

Année:

2005

Langue:

english

Fichier:

PDF, 1.65 MB

english, 2005