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1

Atlas of the face in genetic disorders by Zackai, Elaine H.

Published 1977

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Robinow syndrome: a diagnosis at the fingertips by Murali, Chaya N., Keena, Beth, Zackai, Elaine H.

Published 2018

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CD4(+) CD25(+) T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia by Sullivan, Kathleen E., McDonald-McGinn, Donna, Zackai, Elaine H.

Published 2002

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Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families by Shaikh, Tamim H., Budarf, Marcia L., Celle, Livija, Zackai, Elaine H., Emanuel, Beverly S.

Published 1999

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Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome by John, Anitha S., McDonald-McGinn, Donna M., Zackai, Elaine H., Goldmuntz, Elizabeth

Published 2009

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Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals by Carter, Melissa T, Pierre, Stephanie A St., Zackai, Elaine H, Emanuel, Beverly S, Boycott, Kym M

Published 2009

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An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B by Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

Published 2014

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CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features by Jyonouchi, Soma, McDonald-McGinn, Donna M., Bale, Sherri, Zackai, Elaine H., Sullivan, Kathleen E.

Published 2009

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Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) by Kurahashi, Hiroki, Shaikh, Tamim H., Zackai, Elaine H., Celle, Livija, Driscoll, Deborah A., Budarf, Marcia L., Emanuel, Beverly S.

Published 2000

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Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome by Wild, K. Taylor, Nomakuchi, Tomoki T., Sheppard, Sarah E., Leavens, Karla F., De León, Diva D., Zackai, Elaine H.

Published 2021

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Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses by Zarate, Yuri A., Bosanko, Katherine A., Bhoj, Elizabeth, Ganetzky, Rebecca, Starr, Lois J., Zackai, Elaine H., Schaefer, G. Bradley

Published 2015

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Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) by Sullivan, Kathleen E., McDonald-McGinn, Donna, Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H., Jawad, Abbas F.

Published 1999

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13

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) by Smith, Christopher A., Driscoll, Deborah A., Emanuel, Beverly S., McDonald-McGinn, Donna M., Zackai, Elaine H., Sullivan, Kathleen E.

Published 1998

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Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome by Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann

Published 2007

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Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2 by Digilio, M. Cristina, McDonald-McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.

Published 2009

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Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome by Machado, Alexei M. C., Simon, Tony J., Nguyen, Vy, McDonald-McGinn, Donna M., Zackai, Elaine H., Gee, James C.

Published 2006

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Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome by Fine, Sarah E., Weissman, Alison, Gerdes, Marsha, Pinto-Martin, Jennifer, Zackai, Elaine H., McDonald-McGinn, Donna M., Emanuel, Beverly S.

Published 2005

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18

Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome by Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B, Zackai, Elaine H.

Published 2013

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19

Interstitial deletion 4p15.32p16.1 and complex chromoplexy in a female proband with severe neurodevelopmental delay, growth failure and dysmorphism by Li, Dong, Strong, Alanna, Hou, Cuiping, Downes, Helen, Pritchard, Amanda Barone, Mazzeo, Pamela, Zackai, Elaine H., Conlin, Laura K., Hakonarson, Hakon

Published 2022

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20

Hyperglycaemia after Stage I palliation does not adversely affect neurodevelopmental outcome at 1 year of age in patients with single-ventricle physiology, by Ballweg, Jean A., Ittenbach, Richard F., Bernbaum, Judy, Gerdes, Marsha, Dominguez, Troy E., Zackai, Elaine H., Clancy, Robert R., Gaynor, James William

Published 2009

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Search Results - Zackai, Elaine H.

Atlas of the face in genetic disorders by Zackai, Elaine H.

Robinow syndrome: a diagnosis at the fingertips by Murali, Chaya N., Keena, Beth, Zackai, Elaine H.

CD4(+) CD25(+) T-Cell Production in Healthy Humans and in Patients with Thymic Hypoplasia by Sullivan, Kathleen E., McDonald-McGinn, Donna, Zackai, Elaine H.

Clustered 11q23 and 22q11 Breakpoints and 3:1 Meiotic Malsegregation in Multiple Unrelated t(11;22) Families by Shaikh, Tamim H., Budarf, Marcia L., Celle, Livija, Zackai, Elaine H., Emanuel, Beverly S.

Aortic Root Dilation in Patients With 22q11.2 Deletion Syndrome by John, Anitha S., McDonald-McGinn, Donna M., Zackai, Elaine H., Goldmuntz, Elizabeth

Phenotypic Delineation of Emanuel Syndrome (Supernumerary Derivative 22 syndrome): Clinical features of 63 individuals by Carter, Melissa T, Pierre, Stephanie A St., Zackai, Elaine H, Emanuel, Beverly S, Boycott, Kym M

An Individual with Blepharophimosis-Ptosis-Epicanthus Inversus Syndrome (BPES) and Additional Features Expands the Phenotype Associated with Mutations in KAT6B by Yu, Hung-Chun, Geiger, Elizabeth A., Medne, Livija, Zackai, Elaine H., Shaikh, Tamim H.

CHARGE Syndrome and Chromosome 22q11.2 Deletion Syndrome: A Comparison of Immunologic and Non-Immunologic Phenotypic Features by Jyonouchi, Soma, McDonald-McGinn, Donna M., Bale, Sherri, Zackai, Elaine H., Sullivan, Kathleen E.

Tightly Clustered 11q23 and 22q11 Breakpoints Permit PCR-Based Detection of the Recurrent Constitutional t(11;22) by Kurahashi, Hiroki, Shaikh, Tamim H., Zackai, Elaine H., Celle, Livija, Driscoll, Deborah A., Budarf, Marcia L., Emanuel, Beverly S.

Hyperinsulinism in an individual with an EP300 variant of Rubinstein-Taybi syndrome by Wild, K. Taylor, Nomakuchi, Tomoki T., Sheppard, Sarah E., Leavens, Karla F., De León, Diva D., Zackai, Elaine H.

Phenotypic Modifications of Patients with Full Chromosome Aneuploidies and Concurrent Suspected or Confirmed Second Diagnoses by Zarate, Yuri A., Bosanko, Katherine A., Bhoj, Elizabeth, Ganetzky, Rebecca, Starr, Lois J., Zackai, Elaine H., Schaefer, G. Bradley

Longitudinal Analysis of Lymphocyte Function and Numbers in the First Year of Life in Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) by Sullivan, Kathleen E., McDonald-McGinn, Donna, Driscoll, Deborah A., Emanuel, Beverly S., Zackai, Elaine H., Jawad, Abbas F.

Increased Prevalence of Immunoglobulin A Deficiency in Patients with the Chromosome 22q11.2 Deletion Syndrome (DiGeorge Syndrome/Velocardiofacial Syndrome) by Smith, Christopher A., Driscoll, Deborah A., Emanuel, Beverly S., McDonald-McGinn, Donna M., Zackai, Elaine H., Sullivan, Kathleen E.

Primary Amenorrhea and Absent Uterus in the 22q11.2 Deletion Syndrome by Sundaram, Usha T., McDonald-McGinn, Donna M., Huff, Dale, Emanuel, Beverly S., Zackai, Elaine H., Driscoll, Deborah A., Bodurtha, Joann

Three Patients With Oculo-Auriculo-Vertebral Spectrum and Microdeletion 22q11.2 by Digilio, M. Cristina, McDonald-McGinn, Donna M., Heike, Carrie, Catania, Charles, Dallapiccola, Bruno, Marino, Bruno, Zackai, Elaine H.

Corpus callosum morphology and ventricular size in chromosome 22q11.2 deletion syndrome by Machado, Alexei M. C., Simon, Tony J., Nguyen, Vy, McDonald-McGinn, Donna M., Zackai, Elaine H., Gee, James C.

Autism Spectrum Disorders and Symptoms in Children with Molecularly Confirmed 22q11.2 Deletion Syndrome by Fine, Sarah E., Weissman, Alison, Gerdes, Marsha, Pinto-Martin, Jennifer, Zackai, Elaine H., McDonald-McGinn, Donna M., Emanuel, Beverly S.

Expanding the Differential Diagnosis of Fetal Hydrops: An Unusual Prenatal Presentation of Megalencephaly-Capillary Malformation Syndrome by Swarr, Daniel T., Khalek, Nahla, Treat, James, Horton, Margaret A., Mirzaa, Ghayda M., Riviere, Jean-Baptiste, Dobyns, William B, Zackai, Elaine H.

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