McDonald-McGinn, D. M.: search on Z-Library

The world's largest scientific articles store. 70,000,000+ articles for free.

Don't use scam websites

51

Autoimmune disorders in Kabuki syndrome

Jeffrey E. Ming, Karen L. Russell, Donna M. McDonald-McGinn, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 82 KB

english, 2005

52

Immune abnormalities are a frequent manifestation of Kabuki syndrome

Jodi D. Hoffman, Karen L. Ciprero, Kathleen E. Sullivan, Paige B. Kaplan, Donna M. McDonald-McGinn, Elaine H. Zackai, Jeffrey E. Ming

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 53 KB

english, 2005

53

Craniosynostosis: Another feature of the 22q11.2 deletion syndrome

Donna M. McDonald-McGinn, Karen W. Gripp, Richard E. Kirschner, Melissa K. Maisenbacher, Virginia Hustead, Galen M. Schauer, Kim M. Keppler-Noreuil, Karen L. Ciprero, Patrick Pasquariello Jr., Don LaR

Journal:

American Journal of Medical Genetics Part A

Year:

2005

Language:

english

File:

PDF, 200 KB

english, 2005

54

Malignancy in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

Donna M. McDonald-McGinn, Anne Reilly, Carina Wallgren-Pettersson, H. Eugene Hoyme, Samuel P. Yang, Margaret P. Adam, Elaine H. Zackai, Kathleen E. Sullivan

Journal:

American Journal of Medical Genetics Part A

Year:

2006

Language:

english

File:

PDF, 77 KB

english, 2006

55

Sclerocornea associated with the chromosome 22q11.2 deletion syndrome

Gil Binenbaum, Donna M. McDonald-McGinn, Elaine H. Zackai, B. Michael Walker, Karlene Coleman, Amy M. Mach, Margaret Adam, Melanie Manning, Deborah M. Alcorn, Carrie Zabel, Dennis R. Anderson, Brian J

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 76 KB

english, 2008

56

Consistent chromosome abnormalities identify novel polymicrogyria loci in 1p36.3, 2p16.1–p23.1, 4q21.21–q22.1, 6q26–q27, and 21q2

William B. Dobyns, Ghayda Mirzaa, Susan L. Christian, Kristin Petras, Jessica Roseberry, Gary D. Clark, Cynthia J.R. Curry, Donna McDonald-McGinn, Livija Medne, Elaine Zackai, Julie Parsons, Dina J. Z

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 2.61 MB

english, 2008

57

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

Year:

2009

Language:

english

File:

PDF, 77 KB

english, 2009

58

Three patients with oculo-auriculo-vertebral spectrum and microdeletion 22q11.2

M. Cristina Digilio, Donna M. McDonald-McGinn, Carrie Heike, Charles Catania, Bruno Dallapiccola, Bruno Marino, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2009

Language:

english

File:

PDF, 103 KB

english, 2009

59

A de novo 8.8-Mb deletion of 21q21.1–q21.3 in an autistic male with a complex rearrangement involving chromosomes 6, 10, and 21

Chad R. Haldeman-Englert, Kimberly A. Chapman, Hillary Kruger, Elizabeth A. Geiger, Donna M. McDonald-McGinn, Eric Rappaport, Elaine H. Zackai, Nancy B. Spinner, Tamim H. Shaikh

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 175 KB

english, 2010

60

Metopic craniosynostosis due to mutations in GLI3: A novel association

Donna M. McDonald-McGinn, Holly Feret, Hyun-Duck Nah, Scott P. Bartlett, Linton A. Whitaker, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2010

Language:

english

File:

PDF, 255 KB

english, 2010

61

Ablepharon–Macrostomia syndrome—Extension of the phenotype

Staci Kallish, Donna M. McDonald-McGinn, Mieke M. van Haelst, Scott P. Bartlett, James A. Katowitz, Elaine H. Zackai

Journal:

American Journal of Medical Genetics Part A

Year:

2011

Language:

english

File:

PDF, 573 KB

english, 2011

62

Computerized neurocognitive profile in young people with 22q11.2 deletion syndrome compared to youths with schizophrenia and At-Risk for psychosis

Paula C. Goldenberg, Monica E. Calkins, Jan Richard, Donna McDonald-McGinn, Elaine Zackai, Nandita Mitra, Beverly Emanuel, Marcella Devoto, Karin Borgmann-Winter, Christian Kohler, Catherine G. Conroy

Journal:

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics

Year:

2012

Language:

english

File:

PDF, 176 KB

english, 2012

63

Segmental spinal muscular atrophy and dermatological findings in a patient with chromosome 18q deletion

B. J. Weiss, J. Kamholz, A. Ritter, E. H. Zackai, D. M. McDonald-McGinn, B. Emanuel, Dr. K. H. Fischbeck

Journal:

Annals of Neurology

Year:

1991

Language:

english

File:

PDF, 534 KB

english, 1991

64

Juvenile rheumatoid arthritis-like polyarthritis in chromosome 22q11.2 deletion syndrome (digeorge anomalad/velocardiofacial syndrome/conotruncal anomaly face syndrome)

Kathleen E. Sullivan, Donna M. McDonald-McGinn, Deborah A. Driscoll, Chester M. Zmijewski, Abdou S. Ellabban, Lori Reed, Beverly S. Emanuel, Elaine H. Zackai, Balu H. Athreya, Gregory Keenan

Journal:

Arthritis & Rheumatism

Year:

1997

Language:

english

File:

PDF, 705 KB

english, 1997

65

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

Year:

2009

Language:

english

File:

PDF, 76 KB

english, 2009

66

Genetic counseling for the 22q11.2 deletion

Donna M. McDonald-McGinn, Elaine H. Zackai

Journal:

Development Diabilities Research Reviews

Year:

2008

Language:

english

File:

PDF, 127 KB

english, 2008

67

Genotype and cardiovascular phenotype correlations with TBX1 in 1,022 velo-cardio-facial/digeorge/22q11.2 deletion syndrome patients

Tingwei Guo, Donna McDonald-McGinn, Anna Blonska, Alan Shanske, Anne S. Bassett, Eva Chow, Mark Bowser, Molly Sheridan, Frits Beemer, Koen Devriendt, Ann Swillen, Jeroen Breckpot, Maria C. Digilio, Br

Journal:

Year:

2011

Language:

english

File:

PDF, 611 KB

english, 2011

68

Human malformations similar to those in the mouse mutation disorganization(Ds)

Nathaniel H. Robin, Olusina O. Adewale, Donna McDonald-McGinn, Joseph H. Nadeau, Elaine H. Zackai, Maja Bućan

Journal:

Year:

1993

Language:

english

File:

PDF, 723 KB

english, 1993

69

Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Börjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient

J. Gecz, Elizabeth Baker, Andrew Donnelly, Jeffrey E. Ming, Donna M. McDonald-McGinn, Nancy B. Spinner, Elaine H. Zackai, Grant R. Sutherland, John C. Mulley

Journal:

Year:

1999

Language:

english

File:

PDF, 155 KB

english, 1999

70

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome

Sarah E. Fine, Alison Weissman, Marsha Gerdes, Jennifer Pinto-Martin, Elaine H. Zackai, Donna M. McDonald-McGinn, Beverly S. Emanuel

Journal:

Journal of Autism and Developmental Disorders

Year:

2005

Language:

english

File:

PDF, 239 KB

english, 2005

71

A Prospective Study of Influenza Vaccination and a Comparison of Immunologic Parameters in Children and Adults with Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome)

Abbas F. Jawad, Eline Luning Prak, Jean Boyer, Donna M. McDonald-McGinn, Elaine Zackai, Kenyetta McDonald, Kathleen E. Sullivan

Journal:

Journal of Clinical Immunology

Year:

2011

Language:

english

File:

PDF, 266 KB

english, 2011

72

Molecular cytogenetic characterization of multiple intrachromosomal rearrangements of chromosome 2q in a patient with Waardenburg's syndrome and other congenital defects

SH Shim, HE Wyandt, DM McDonald-McGinn, EZ Zackai, A Milunsky

Journal:

Clinical Genetics

Year:

2004

Language:

english

File:

PDF, 5.66 MB

english, 2004

73

Contiguous gene deletions involving EFNB1, OPHN1, PJA1 and EDA in patients with craniofrontonasal syndrome

I Wieland, C Weidner, R Ciccone, E Lapi, D McDonald-McGinn, W Kress, S Jakubiczka, H Collmann, O Zuffardi, E Zackai, P Wieacker

Journal:

Clinical Genetics

Year:

2007

Language:

english

File:

PDF, 296 KB

english, 2007

74

Identification of a previously unrecognized microdeletion syndrome of 16q11.2q12.2

BC Ballif, A Theisen, DM McDonald-McGinn, EH Zackai, JH Hersh, BA Bejjani, LG Shaffer

Journal:

Clinical Genetics

Year:

2008

Language:

english

File:

PDF, 420 KB

english, 2008

75

Allergies in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome) and patients with chronic granulomatous disease

Lauren Staple, Timothy Andrews, Donna McDonald-McGinn, Elaine Zackai, Kathleen E. Sullivan

Journal:

Pediatric Allergy and Immunology

Year:

2005

Language:

english

File:

PDF, 90 KB

english, 2005

76

Maladaptive conflict monitoring as evidence for executive dysfunction in children with chromosome 22q11.2 deletion syndrome

Joel P. Bish, Samantha M. Ferrante, Donna McDonald-McGinn, Elaine Zackai, Tony J. Simon

Journal:

Developmental Science

Year:

2005

Language:

english

File:

PDF, 142 KB

english, 2005

77

Lack of Correlation between Impaired T Cell Production, Immunodeficiency, and Other Phenotypic Features in Chromosome 22q11.2 Deletion Syndromes (DiGeorge Syndrome/Velocardiofacial Syndrome)

Kathleen E. Sullivan, Abbas F. Jawad, Peter Randall, Deborah A. Driscoll, Beverly S. Emanuel, Donna M. McDonald-McGinn, Elaine H. Zackai

Journal:

Clinical Immunology and Immunopathology

Year:

1998

Language:

english

File:

PDF, 83 KB

english, 1998

78

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

Year:

2005

Language:

english

File:

PDF, 286 KB

english, 2005

79

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome

Alexei M.C. Machado, Tony J. Simon, Vy Nguyen, Donna M. McDonald-McGinn, Elaine H. Zackai, James C. Gee

Journal:

Year:

2007

Language:

english

File:

PDF, 727 KB

english, 2007

80

Secondary immunologic consequences in chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)

R. Zemble, E. Luning Prak, K. McDonald, D. McDonald-McGinn, E. Zackai, K. Sullivan

Journal:

Clinical Immunology

Year:

2010

Language:

english

File:

PDF, 924 KB

english, 2010

81

Affective disorders and other psychiatric diagnoses in children and adolescents with 22q11.2 Deletion Syndrome

Edith M. Jolin, Ronald A. Weller, Naushad R. Jessani, Elaine H. Zackai, Donna M. McDonald-McGinn, Elizabeth B. Weller

Journal:

Journal of Affective Disorders

Year:

2009

Language:

english

File:

PDF, 155 KB

english, 2009

82

Practical Guidelines for Managing Patients with 22q11.2 Deletion Syndrome

Anne S. Bassett, Donna M. McDonald-McGinn, Koen Devriendt, Maria Cristina Digilio, Paula Goldenberg, Alex Habel, Bruno Marino, Solveig Oskarsdottir, Nicole Philip, Kathleen Sullivan, Ann Swillen, Jaco

Journal:

The Journal of Pediatrics

Year:

2011

Language:

english

File:

PDF, 325 KB

english, 2011

83

Effect of congenital heart disease on neurodevelopmental outcomes within multiple-gestation births

Amy H. Schultz, Gail P. Jarvik, Gil Wernovsky, Judy Bernbaum, Robert R. Clancy, Jo Ann D'Agostino, Marsha Gerdes, Donna McDonald-McGinn, Susan C. Nicolson, Thomas L. Spray, Elaine Zackai, J. William G

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2005

Language:

english

File:

PDF, 105 KB

english, 2005

84

The relationship of postoperative electrographic seizures to neurodevelopmental outcome at 1 year of age after neonatal and infant cardiac surgery

J. William Gaynor, Gail P. Jarvik, Judy Bernbaum, Marsha Gerdes, Gil Wernovsky, Nancy B. Burnham, Jo Ann D’Agostino, Elaine Zackai, Donna M. McDonald-McGinn, Susan C. Nicolson, Thomas L. Spray, Robert

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2006

Language:

english

File:

PDF, 244 KB

english, 2006

85

Is cardiac diagnosis a predictor of neurodevelopmental outcome after cardiac surgery in infancy?

J. William Gaynor, Marsha Gerdes, Alex S. Nord, Judy Bernbaum, Elaine Zackai, Gil Wernovsky, Robert R. Clancy, Patrick J. Heagerty, Cynthia B. Solot, Donna McDonald-McGinn, Gail P. Jarvik

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2010

Language:

english

File:

PDF, 235 KB

english, 2010

86

Overlapping numerical cognition impairments in children with chromosome 22q11.2 deletion or Turner syndromes

T.J. Simon, Y. Takarae, T. DeBoer, D.M. McDonald-McGinn, E.H. Zackai, J.L. Ross

Journal:

Neuropsychologia

Year:

2008

Language:

english

File:

PDF, 403 KB

english, 2008

87

Communication disorders in the 22Q11.2 microdeletion syndrome

Cynthia B Solot, Carol Knightly, Steven D Handler, Marsha Gerdes, Donna M Mcdonald-Mcginn, Edward Moss, Paul Wang, Marilyn Cohen, Peter Randall, Don Larossa, Deborah A Driscoll, Beverly S Emanuel, Ela

Journal:

Journal of Communication Disorders

Year:

2000

Language:

english

File:

PDF, 2.87 MB

english, 2000

88

Apolipoprotein E genotype and neurodevelopmental sequelae of infant cardiac surgery

J.William Gaynor, Marsha Gerdes, Elaine H Zackai, Judy Bernbaum, Gil Wernovsky, Robert R Clancy, Mark F Newman, Ann M Saunders, Patrick J Heagerty, Jo Ann D'Agostino, Donna McDonald-McGinn, Susan C Ni

Journal:

The Journal of Thoracic and Cardiovascular Surgery

Year:

2003

Language:

english

File:

PDF, 107 KB

english, 2003

89

Cognitive development in VCFS

Tony J Simon, Carrie E Bearden, Edward M Moss, Donna McDonald-McGinn, Elaine Zackai, Paul P Wang

Journal:

Progress in Pediatric Cardiology

Year:

2002

Language:

english

File:

PDF, 129 KB

english, 2002

90

De novo interstitial deletion of the long arm of chromosome 3:46, XX, del(3) (q25.1q26.1)

Nathaniel H. Robin, Mark Magnusson, Donna McDonald-McGinn, Elaine H. Zackai, Nancy B. Spinner

Journal:

Clinical Genetics

Year:

1993

Language:

english

File:

PDF, 814 KB

english, 1993

91

Diagnosis of 22q11.2 Deletion Syndrome and Artemis Deficiency in Two Children with T-B-NK+ Immunodeficiency

Heimall, Jennifer, Keller, Michael, Saltzman, Rushani, Bunin, Nancy, McDonald-McGinn, Donna, Zakai, Elaine, Villartay, Jean-Pierre, Moshous, Despina, Ariue, Barbara, McCarthy, Elizabeth A., Devlin, Bl

Journal:

Journal of Clinical Immunology

Year:

2012

Language:

english

File:

PDF, 111 KB

english, 2012

92

A 3.1-Mb microdeletion of 3p21.31 associated with cortical blindness, cleft lip, CNS abnormalities, and developmental delay

Chad R. Haldeman-Englert, Xiaowu Gai, Juan Carlos Perin, Melissa Ciano, Sara S. Halbach, Elizabeth A. Geiger, Donna M. McDonald-McGinn, Hakon Hakonarson, Elaine H. Zackai, Tamim H. Shaikh

Journal:

European Journal of Medical Genetics

Year:

2009

Language:

english

File:

PDF, 239 KB

english, 2009

93

Chromosome 22q11.2 Deletion Syndrome Associated with Sclerocornea

Gil Binenbaum, Brian J. Forbes, Donna M. McDonald-McGinn, William V. Anninger

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

94

Ocular Phenotype Correlations in Patients with TWIST versus FGFR3 Genetic Mutations

Suzanne K. Jadico, Alexandra Huebner, Donna M. McDonald-McGinn, Elaine H. Zackai, Terri L. Young

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2006

Language:

english

File:

PDF, 43 KB

english, 2006

95

Ocular Phenotype Correlations in Patients with TWIST Versus FGFR3 Genetic Mutations

Suzanne K. Jadico, Alexandra Huebner, Donna M. McDonald-McGinn, Elaine H. Zackai, Terri L. Young

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2006

Language:

english

File:

PDF, 1.28 MB

english, 2006

96

Ocular findings in the chromosome 22q11.2 deletion syndrome

Brian J. Forbes, Gil Binenbaum, Jane C. Edmond, Nicole DeLarato, Donna M. McDonald-McGinn, Elaine H. Zackai

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2007

Language:

english

File:

PDF, 151 KB

english, 2007

97

Ocular abnormalities in Apert syndrome: Genotype/phenotype correlations with fibroblast growth factor receptor type 2 mutations

Suzanne K. Jadico, David A. Young, Alexandra Huebner, Jane C. Edmond, Avrum N. Pollock, Donna M. McDonald-McGinn, Yi-Ju Li, Elaine H. Zackai, Terri L. Young

Journal:

Journal of American Association for Pediatric Ophthalmology and Strabismus

Year:

2006

Language:

english

File:

PDF, 630 KB

english, 2006

98

Specific cerebellar reductions in children with chromosome 22q11.2 deletion syndrome

Joel P. Bish, Akshay Pendyal, Lijun Ding, Heather Ferrante, Vy Nguyen, Donna McDonald-McGinn, Elaine Zackai, Tony J. Simon

Journal:

Neuroscience Letters

Year:

2006

Language:

english

File:

PDF, 162 KB

english, 2006

99

Misalignment of pulmonary veins with alveolar capillary dysplasia: Affected siblings and variable phenotypic expression

Stephanie Boggs, Mary C. Harris, David J. Hoffman, Rajiv Goel, Donna McDonald-McGinn, Claire Langston, Elaine Zackai, Eduardo Ruchelli

Journal:

The Journal of Pediatrics

Year:

1994

Language:

english

File:

PDF, 1.30 MB

english, 1994

100

Identification of a genetic cause for isolated unilateral coronal synostosis: A unique mutation in the fibroblast growth factor receptor 3

Karen W. Gripp, Donna M. McDonald-McGinn, Karin Gaudenz, Linton A. Whitaker, Scott P. Bartlett, Paul M. Glat, Lisa B. Cassileth, Rosario Mayro, Elaine H. Zackai, Maximilian Muenke

Journal:

The Journal of Pediatrics

Year:

1998

Language:

english

File:

PDF, 123 KB

english, 1998