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Articles (51)
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Deaths due to choking in Prader–Willi syndrome

David A. Stevenson, Janalee Heinemann, Moris Angulo, Merlin G. Butler, Jim Loker, Norma Rupe, Patrick Kendell, Carol L. Clericuzio, Ann O. Scheimann

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 74 KB

english, 2007

Neuroimaging findings in macrocephaly–capillary malformation: A longitudinal study of 17 patients

Robert L. Conway, Barry D. Pressman, William B. Dobyns, Moise Danielpour, John Lee, Pedro A. Sanchez-Lara, Merlin G. Butler, Elaine Zackai, Lindsey Campbell, Sulagna C. Saitta, Carol L. Clericuzio, Je

Journal:

American Journal of Medical Genetics Part A

Année:

2007

Langue:

english

Fichier:

PDF, 803 KB

english, 2007

A new hypothesis of OCA1B

Pei-Wen Chiang, Joanne M. Drautz, Anne Chun-Hui Tsai, Elaine Spector, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 85 KB

english, 2008

Elements of morphology: Standard terminology for the hands and feet

Leslie G. Biesecker, Jon M. Aase, Carol Clericuzio, Fiorella Gurrieri, I. Karen Temple, Helga Toriello

Journal:

American Journal of Medical Genetics Part A

Année:

2009

Langue:

english

Fichier:

PDF, 1.75 MB

english, 2009

Report from the workshop on Pallister-Hall syndrome and related phenotypes

Biesecker, Leslie G., Abbott, Margaret, Allen, Jeffrey, Clericuzio, Carol, Feuillan, Penelope, Graham, John M., Hall, Judith, Kang, Seongman, Olney, Ann Haskins, Lefton, Daniel, Neri, Giovani, Peters,

Journal:

American Journal of Medical Genetics

Année:

1996

Langue:

english

Fichier:

PDF, 476 KB

english, 1996

Autosomal dominant inheritance of hypothalamic hamartoma associated with polysyndactyly: Heterogeneity or variable expressivity?

Theresa A. Grebe, Carol Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

1996

Langue:

english

Fichier:

PDF, 943 KB

english, 1996

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance

Gripp, Karen W., Donnai, Dian, Clericuzio, Carol L., McDonald-McGinn, Donna M., Guttenberg, Marta, Zackai, Elaine H.

Journal:

American Journal of Medical Genetics

Année:

1997

Langue:

english

Fichier:

PDF, 215 KB

english, 1997

Recognition and management of childhood cancer syndromes: A systems approach

Clericuzio, Carol L.

Journal:

American Journal of Medical Genetics

Année:

1999

Langue:

english

Fichier:

PDF, 109 KB

english, 1999

Hydranencephaly in an infant with vascular malformations

David A. Stevenson, Blaine L. Hart, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

2001

Langue:

english

Fichier:

PDF, 198 KB

english, 2001

Dyssegmental dysplasias: Clinical, radiographic, and morphologic evidence of heterogeneity

Dr. Kirk A. Aleck, Art Grix, Carol Clericuzio, Paige Kaplan, Gerald E. Adomian, Ralph Lachman, David L. Rimoin, Judith G. Hall

Journal:

American Journal of Medical Genetics Part A

Année:

1987

Langue:

english

Fichier:

PDF, 2.77 MB

english, 1987

Natural history of the recombinant (8) syndrome

Eva Sujansky, Ann C. M. Smith, Karen E. Prescott, Cindy L. Freehauf, Carol Clericuzio, Arthur Robinson

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 1.47 MB

english, 1993

Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome

Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

1993

Langue:

english

Fichier:

PDF, 286 KB

english, 1993

Spondylocarpotarsal synostosis syndrome (with or without unilateral unsegmented bar)

Leonard O. Langer Jr., Dr. Robert J. Gorlin, Dian Donnai, Ben C. J. Hamel, Carol Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

1994

Langue:

english

Fichier:

PDF, 819 KB

english, 1994

Absence of RECQL4 mutations in poikiloderma with neutropenia in Navajo and non-Navajo patients

Lisa L. Wang, Anu Gannavarapu, Carol L. Clericuzio, Robert P. Erickson, Alan D. Irvine, Sharon E. Plon

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 151 KB

english, 2003

Athabascan brainstem dysgenesis syndrome

Steve Holve, Barbara Friedman, H. Eugene Hoyme, Theodore J. Tarby, Sharon J. Johnstone, Robert P. Erickson, Carol L. Clericuzio, Christopher Cunniff

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 64 KB

english, 2003

Unexpected death and critical illness in Prader–Willi syndrome: Report of ten individuals

David A. Stevenson, Theresa M. Anaya, Jill Clayton-Smith, Bryan D. Hall, Margot I. Van Allen, Roberto T. Zori, Elaine H. Zackai, Gary Frank, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

2004

Langue:

english

Fichier:

PDF, 85 KB

english, 2004

Methotrexate/misoprostol embryopathy: Report of four cases resulting from failed medical abortion

Margaret P. Adam, Melanie A. Manning, Anita E. Beck, Andrea Kwan, Gregory M. Enns, Carol Clericuzio, H. Eugene Hoyme

Journal:

American Journal of Medical Genetics Part A

Année:

2003

Langue:

english

Fichier:

PDF, 243 KB

english, 2003

Marshall–Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities

Margaret P. Adam, Raoul C.M. Hennekam, Laura Davis Keppen, Marilyn J. Bull, Carol L. Clericuzio, Leah W. Burke, Kelly E. Ormond, Eugene H. Hoyme

Journal:

American Journal of Medical Genetics Part A

Année:

2005

Langue:

english

Fichier:

PDF, 274 KB

english, 2005

Constitutional UPD for chromosome 11p15 in individuals with isolated hemihyperplasia is associated with high tumor risk and occurs following assisted reproductive technologies

Cheryl Shuman, Adam C. Smith, Leslie Steele, Peter N. Ray, Carol Clericuzio, Elaine Zackai, Melissa A. Parisi, Anna T. Meadows, Thaddeus Kelly, David Tichauer, Jeremy A. Squire, Paul Sadowski, Rosanna

Journal:

American Journal of Medical Genetics Part A

Année:

2006

Langue:

english

Fichier:

PDF, 146 KB

english, 2006

Pierre Robin sequence associated with first trimester fetal tamoxifen exposure

Joel C. Berger, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 123 KB

english, 2008

Two new patients with Curry–Jones syndrome with trichoblastoma and medulloblastoma suggest an etiologic role of the sonic hedgehog-patched-GLI pathway

Dorothy K. Grange, Carol L. Clericuzio, Susan J. Bayliss, David R. Berk, Richard L. Heideman, Julie K. Higginson, Stephanie Julian, Anne Lind

Journal:

American Journal of Medical Genetics Part A

Année:

2008

Langue:

english

Fichier:

PDF, 222 KB

english, 2008

Overlapping spectra of SMAD4 mutations in juvenile polyposis (JP) and JP–HHT syndrome

Carol Gallione, Arthur S. Aylsworth, Jill Beis, Terri Berk, Barbara Bernhardt, Robin D. Clark, Carol Clericuzio, Cesare Danesino, Joanne Drautz, Jeffrey Fahl, Zheng Fan, Marie E. Faughnan, Arupa Gangu

Journal:

American Journal of Medical Genetics Part A

Année:

2010

Langue:

english

Fichier:

PDF, 133 KB

english, 2010

Identification of a novel C16orf57 mutation in Athabaskan patients with Poikiloderma with Neutropenia

Carol Clericuzio, Karine Harutyunyan, Weidong Jin, Robert P. Erickson, Alan D. Irvine, W.H. Irwin McLean, Yaran Wen, Rochelle Bagatell, Thomas A. Griffin, Tor A. Shwayder, Sharon E. Plon, Lisa L. Wang

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 204 KB

english, 2011

A new syndrome with multiple capillary malformations, intractable seizures, and brain and limb anomalies

Melissa T. Carter, Michael T. Geraghty, Laura De La Cruz, R. Ross Reichard, Luigi Boccuto, Charles E. Schwartz, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 212 KB

english, 2011

Deletions and duplications of developmental pathway genes in 5q31 contribute to abnormal phenotypes

Jill A. Rosenfeld, Joanne Milisa Drautz, Carol L. Clericuzio, Tom Cushing, Salmo Raskin, Judith Martin, Raymond C. Tervo, Jose A. Pitarque, Dorota M. Nowak, Justyna A. Karolak, Allen N. Lamb, Roger A.

Journal:

American Journal of Medical Genetics Part A

Année:

2011

Langue:

english

Fichier:

PDF, 2.42 MB

english, 2011

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

Olivier Gribouval, Vincent Morinière, Audrey Pawtowski, Christelle Arrondel, Satu-Leena Sallinen, Carola Saloranta, Carol Clericuzio, Géraldine Viot, Julia Tantau, Sophie Blesson, Sylvie Cloarec, Mari

Journal:

Human Mutation

Année:

2012

Langue:

english

Fichier:

PDF, 309 KB

english, 2012

Clinical phenotypes and Wilms tumor

Carol L. Clericuzio

Journal:

Pediatric Blood & Cancer

Année:

1993

Langue:

english

Fichier:

PDF, 595 KB

english, 1993

Summary and recommendations of the workshop held at the first international conference on molecular and clinical genetics of childhood renal tumors, Albuquerque, New Mexico, May 14–16, 1992

Carol L. Clericuzio, Giulio J. D'Angio, Marilyn Duncan, Daniel M. Green, Alfred G. Knudson Jr

Journal:

Pediatric Blood & Cancer

Année:

1993

Langue:

english

Fichier:

PDF, 427 KB

english, 1993

Clinical and molecular genetic features of ARC syndrome

Paul Gissen, Louise Tee, Colin A. Johnson, Emmanuelle Genin, Almuth Caliebe, David Chitayat, Carol Clericuzio, Jonas Denecke, Maja Di Rocco, Björn Fischler, David FitzPatrick, Angeles García-Cazorla,

Journal:

Human Genetics

Année:

2006

Langue:

english

Fichier:

PDF, 190 KB

english, 2006

Mucocutaneous Squamous Papilloma With Reactive Lymphoid Hyperplasia in Two Patients With Focal Dermal Hypoplasia

Stephanie A. Rosen, Therese Bocklage, Carol L. Clericuzio

Journal:

Pediatric and Developmental Pathology

Année:

2005

Langue:

english

Fichier:

PDF, 99 KB

english, 2005

16 MONTH-OLD FEMALE WITH INTRAVENTRICULAR MASS

Muhammad Omar Chohan, Tausif Rehman, Rafael Medina-Flores, Carol Clericuzio, Richard Heideman, Erich Marchand

Journal:

Brain Pathology

Année:

2011

Langue:

english

Fichier:

PDF, 464 KB

english, 2011

Clinical utility gene card for: WAGR syndrome

Clericuzio, Carol, Hingorani, Melanie, Crolla, John A, van Heyningen, Veronica, Verloes, Alain

Journal:

European Journal of Human Genetics

Année:

2011

Langue:

english

Fichier:

PDF, 113 KB

english, 2011

Emotion-related learning in individuals prenatally exposed to alcohol: an investigation of the relation between set shifting, extinction of responses, and behavior

Piyadasa W Kodituwakku, Philip A May, Carol L Clericuzio, David Weers

Journal:

Neuropsychologia

Année:

2001

Langue:

english

Fichier:

PDF, 94 KB

english, 2001

Congenital Ventral Hernia in Association with Focal Dermal Hypoplasia

Amina M. Bhatia, Carol L. Clericuzio, Catherine A. Musemeche

Journal:

Pediatric Dermatology

Année:

1995

Langue:

english

Fichier:

PDF, 251 KB

english, 1995

A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families

Douglas A. Marchuk, Carol J. Galllone, Leslie A. Morrison, Carol L. Clericuzio, Blaine L. Hart, Barry E. Kosofsky, David N. Louis, James F. Gusella, Larry E. Davis, Valerie L. Prenger

Journal:

Genomics

Année:

1995

Fichier:

PDF, 242 KB

1995

Risk for leukemia in infants without down syndrome who have transient myeloproliferative disorder

Thomas Cushing, Carol L. Clericuzio, Carla S. Wilson, Jeffrey W. Taub, Yubin Ge, Kaaren K. Reichard, Stuart S. Winter

Journal:

The Journal of Pediatrics

Année:

2006

Langue:

english

Fichier:

PDF, 144 KB

english, 2006

Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia

Carol L Clericuzio, Emily Chen, Dawn Elizabeth McNeil, Timothy O'Connor, Elaine H Zackai, Livija Medne, Gail Tomlinson, Michael DeBaun

Journal:

The Journal of Pediatrics

Année:

2003

Langue:

english

Fichier:

PDF, 88 KB

english, 2003

A new form of long QT syndrome associated with syndactyly

Melinda L Marks, Sandra L Whisler, Carol Clericuzio, Mark Keating

Journal:

Journal of the American College of Cardiology

Année:

1995

Langue:

english

Fichier:

PDF, 599 KB

english, 1995

Identification of Two Novel Deletion Mutations within the G s α Gene ( GNAS1 ) in Albright Hereditary Osteodystrophy 1

Yu, Dawen, Yu, Shuhua, Schuster, Volker, Kruse, Klaus, Clericuzio, Carol L., Weinstein, Lee S.

Journal:

Journal of Clinical Endocrinology & Metabolism

Année:

1999

Langue:

english

Fichier:

PDF, 674 KB

english, 1999

Weaver syndrome and EZH2 mutations: Clarifying the clinical phenotype

Tatton-Brown, Katrina, Murray, Anne, Hanks, Sandra, Douglas, Jenny, Armstrong, Ruth, Banka, Siddharth, Bird, Lynne M., Clericuzio, Carol L., Cormier-Daire, Valerie, Cushing, Tom, Flinter, Frances, Jac

Journal:

American Journal of Medical Genetics Part A

Année:

2013

Langue:

english

Fichier:

PDF, 603 KB

english, 2013

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly–capillary malformation syndrome

McDonell, Laura M, Mirzaa, Ghayda M, Alcantara, Diana, Schwartzentruber, Jeremy, Carter, Melissa T, Lee, Leo J, Clericuzio, Carol L, Graham, John M, Morris-Rosendahl, Deborah J, Polster, Tilman, Acsad

Journal:

Nature Genetics

Année:

2013

Langue:

english

Fichier:

PDF, 860 KB

english, 2013

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

Clericuzio, Carol L, Martin, Rick A

Journal:

Genetics in Medicine

Année:

2009

Langue:

english

Fichier:

PDF, 106 KB

english, 2009

Oculocerebrocutaneous Syndrome?

CLERICUZIO, CAROL

Journal:

Archives of Pediatrics and Adolescent Medicine

Année:

1990

Langue:

english

Fichier:

PDF, 175 KB

english, 1990

Diagnosing Xeroderma Pigmentosum Group C by Immunohistochemistry

de Feraudy, Sébastien, Boubakour-Azzouz, Imenne, Fraitag, Sylvie, Berneburg, Mark, Chan, Loretta, Chew, Kevin, Clericuzio, Carol L, Cunningham, Bari, Tope, Whitney D, Cleaver, James E

Journal:

American Journal of Dermatopathology

Année:

2010

Langue:

english

Fichier:

PDF, 1.43 MB

english, 2010

Medical genetics by G. Bradley Schaefer and James N. Thompson, Jr. (Jan 13, 2014) ISBN: 0071664386/9780071664387

Clericuzio, Carol L.

Journal:

American Journal of Medical Genetics Part A

Année:

2015

Langue:

english

Fichier:

PDF, 45 KB

english, 2015

Acute Lymphoblastic Leukemia in a Patient With Miller-Dieker Syndrome

Czuchlewski, David R., Andrews, Jared, Madden, Richard, Clericuzio, Carol L., Zhang, Qian-Yun

Journal:

Journal of Pediatric Hematology/Oncology

Année:

2008

Langue:

english

Fichier:

PDF, 92 KB

english, 2008

Occurrence of DNET and other brain tumors in Noonan syndrome warrants caution with growth hormone therapy

McWilliams, Geoffrey D., SantaCruz, Karen, Hart, Blaine, Clericuzio, Carol

Journal:

American Journal of Medical Genetics Part A

Année:

2016

Langue:

english

Fichier:

PDF, 998 KB

english, 2016

1295 FETAL PRIMIDONE EFFECTS

Houme, H Eugene, Clericuzio, Carol L

Journal:

Pediatric Research

Année:

1985

Langue:

english

Fichier:

PDF, 159 KB

english, 1985

Tumor-Induced Rickets Presenting in an Adolescent

Morrell, Nathan T., Beck, Nancy L., Clericuzio, Carol, Frias-Kletecka, Carmen, Szalay, Elizabeth A.

Journal:

JBJS Case Connector

Année:

2014

Langue:

english

Fichier:

PDF, 1.59 MB

english, 2014

Prader-Willi Syndrome

KAUFMAN, HOLLY, OVERTON, GAIL, LEGGOTT, JOHN, CLERICUZIO, CAROL

Journal:

Southern Medical Journal

Année:

1995

Fichier:

PDF, 267 KB

1995