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1

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

Year:

2007

Language:

english

File:

PDF, 74 KB

english, 2007

2

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

Year:

2007

Language:

english

File:

PDF, 803 KB

english, 2007

3

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

Year:

2008

Language:

english

File:

PDF, 85 KB

english, 2008

4

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

Year:

2009

Language:

english

File:

PDF, 1.75 MB

english, 2009

5

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

Year:

1996

Language:

english

File:

PDF, 476 KB

english, 1996

6

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

Year:

1996

Language:

english

File:

PDF, 943 KB

english, 1996

7

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

Year:

1997

Language:

english

File:

PDF, 215 KB

english, 1997

8

Recognition and management of childhood cancer syndromes: A systems approach

Clericuzio, Carol L.

Journal:

American Journal of Medical Genetics

Year:

1999

Language:

english

File:

PDF, 109 KB

english, 1999

9

Hydranencephaly in an infant with vascular malformations

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

Journal:

American Journal of Medical Genetics Part A

Year:

2001

Language:

english

File:

PDF, 198 KB

english, 2001

10

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

Year:

1987

Language:

english

File:

PDF, 2.77 MB

english, 1987

11

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

Year:

1993

Language:

english

File:

PDF, 1.47 MB

english, 1993

12

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

Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

1993

Language:

english

File:

PDF, 286 KB

english, 1993

13

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

Year:

1994

Language:

english

File:

PDF, 819 KB

english, 1994

14

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

Year:

2003

Language:

english

File:

PDF, 151 KB

english, 2003

15

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

Year:

2003

Language:

english

File:

PDF, 64 KB

english, 2003

16

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

Year:

2004

Language:

english

File:

PDF, 85 KB

english, 2004

17

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

Year:

2003

Language:

english

File:

PDF, 243 KB

english, 2003

18

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

Year:

2005

Language:

english

File:

PDF, 274 KB

english, 2005

19

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

Year:

2006

Language:

english

File:

PDF, 146 KB

english, 2006

20

Pierre Robin sequence associated with first trimester fetal tamoxifen exposure

Joel C. Berger, Carol L. Clericuzio

Journal:

American Journal of Medical Genetics Part A

Year:

2008

Language:

english

File:

PDF, 123 KB

english, 2008

21

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

Year:

2008

Language:

english

File:

PDF, 222 KB

english, 2008

22

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

Year:

2010

Language:

english

File:

PDF, 133 KB

english, 2010

23

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

Year:

2011

Language:

english

File:

PDF, 204 KB

english, 2011

24

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

Year:

2011

Language:

english

File:

PDF, 212 KB

english, 2011

25

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

Year:

2011

Language:

english

File:

PDF, 2.42 MB

english, 2011

26

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:

Year:

2012

Language:

english

File:

PDF, 309 KB

english, 2012

27

Clinical phenotypes and Wilms tumor

Carol L. Clericuzio

Journal:

Pediatric Blood & Cancer

Year:

1993

Language:

english

File:

PDF, 595 KB

english, 1993

28

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

Year:

1993

Language:

english

File:

PDF, 427 KB

english, 1993

29

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:

Year:

2006

Language:

english

File:

PDF, 190 KB

english, 2006

30

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

Year:

2005

Language:

english

File:

PDF, 99 KB

english, 2005

31

16 MONTH-OLD FEMALE WITH INTRAVENTRICULAR MASS

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

Journal:

Brain Pathology

Year:

2011

Language:

english

File:

PDF, 464 KB

english, 2011

32

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

Year:

2011

Language:

english

File:

PDF, 113 KB

english, 2011

33

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

Year:

2001

Language:

english

File:

PDF, 94 KB

english, 2001

34

Congenital Ventral Hernia in Association with Focal Dermal Hypoplasia

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

Journal:

Pediatric Dermatology

Year:

1995

Language:

english

File:

PDF, 251 KB

english, 1995

35

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:

Year:

1995

File:

PDF, 242 KB

1995

36

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

Year:

2006

Language:

english

File:

PDF, 144 KB

english, 2006

37

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

Year:

2003

Language:

english

File:

PDF, 88 KB

english, 2003

38

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

Year:

1995

Language:

english

File:

PDF, 599 KB

english, 1995

39

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

Year:

1999

Language:

english

File:

PDF, 674 KB

english, 1999

40

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

Year:

2013

Language:

english

File:

PDF, 603 KB

english, 2013

41

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

Year:

2013

Language:

english

File:

PDF, 860 KB

english, 2013

42

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia

Clericuzio, Carol L, Martin, Rick A

Journal:

Genetics in Medicine

Year:

2009

Language:

english

File:

PDF, 106 KB

english, 2009

43

Oculocerebrocutaneous Syndrome?

CLERICUZIO, CAROL

Journal:

Archives of Pediatrics and Adolescent Medicine

Year:

1990

Language:

english

File:

PDF, 175 KB

english, 1990

44

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

Year:

2010

Language:

english

File:

PDF, 1.43 MB

english, 2010

45

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

Year:

2015

Language:

english

File:

PDF, 45 KB

english, 2015

46

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

Year:

2008

Language:

english

File:

PDF, 92 KB

english, 2008

47

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

Year:

2016

Language:

english

File:

PDF, 998 KB

english, 2016

48

1295 FETAL PRIMIDONE EFFECTS

Houme, H Eugene, Clericuzio, Carol L

Journal:

Pediatric Research

Year:

1985

Language:

english

File:

PDF, 159 KB

english, 1985

49

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

Year:

2014

Language:

english

File:

PDF, 1.59 MB

english, 2014

50

Prader-Willi Syndrome

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

Journal:

Southern Medical Journal

Year:

1995

File:

PDF, 267 KB

1995