A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys von Ito, Y.A., Smith, A.C., Kernohan, K.D., Pena, I.A., Ahmed, A., McDonell, L.M., Beaulieu, C., Bulman, D.E., Smidt, A., Sawyer, S.L., Dyment, D.A., Boycott, K.M., Clericuzio, C.L.

Volltext

Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2 von WANG, M, CLERICUZIO, C. L, GODFREY, M

Volltext

Bilateral cavernous internal carotid aneurysms in a child with juvenile paget disease and osteoprotegerin deficiency von Allen, C A, Hart, B L, Taylor, C L, Clericuzio, C L

Volltext

A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families von Marchuk, Douglas A., Galllone, Carol J., Morrison, Leslie A., Clericuzio, Carol L., Hart, Blaine L., Kosofsky, Barry E., Louis, David N., Gusella, James F., Davis, Larry E., Prenger, Valerie L.

Volltext

Emotion-related learning in individuals prenatally exposed to alcohol: an investigation of the relation between set shifting, extinction of responses, and behavior von Kodituwakku, Piyadasa W, May, Philip A, Clericuzio, Carol L, Weers, David

Volltext

Diagnostic criteria and tumor screening for individuals with isolated hemihyperplasia von Clericuzio, Carol L, Martin, Rick A

Volltext

502 TRANSIENT MYELOPROLIFERATIVE DISORDER IN A NON-DOWN SYNDROME INFANT WITH BLAST CELL MOSAICISM FOR TRISOMY 21: WHAT IS THE RISK FOR LEUKEMIA AND PATHOGENESIS? von Cushing, T. H., Winter, S. S., Clericuzio, C. L.

Volltext

308 PITFALLS IN MEASURING THE PALPEBRAL FISSURE IN FETAL ALCOHOL SYNDROME: IS OUTER CANTHAL DISTANCE A BETTER PARAMETER? von Powers, J. M., Ganem, J. F., Clericuzio, C. L.

Volltext

Review of radiologic and clinical findings in the recombinant 8 syndrome von WILLIAMSON, S. L, CLERICUZIO, C. L

Volltext

Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy von Yu, Dawen, Yu, Shuhua, Schuster, Volker, Kruse, Klaus, Clericuzio, Carol L, Weinstein, Lee S

Volltext

Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig von Johnson, E W, Iyer, L M, Rich, S S, Orr, H T, Gil-Nagel, A, Kurth, J H, Zabramski, J M, Marchuk, D A, Weissenbach, J, Clericuzio, C L, Davis, L E, Hart, B L, Gusella, J F, Kosofsky, B E, Louis, D N, Morrison, L A, Green, E D, Weber, J L

Volltext

Clinical phenotypes and Wilms tumor von Clericuzio, Carol L.

Volltext

Serum α-fetoprotein screening for hepatoblastoma in children with Beckwith-Wiedemann syndrome or isolated hemihyperplasia von Clericuzio, Carol L, Chen, Emily, McNeil, Dawn Elizabeth, O'Connor, Timothy, Zackai, Elaine H, Medne, Livija, Tomlinson, Gail, DeBaun, Michael

Volltext

Mild mental retardation with classic somatic phenotype in the Brachmann-de Lange syndrome von Clericuzio, Carol L.

Volltext

Unexpected death and critical illness in Prader-Willi syndrome: Report of ten individuals von Stevenson, David A., Anaya, Theresa M., Clayton-Smith, Jill, Hall, Bryan D., Van Allen, Margot I., Zori, Roberto T., Zackai, Elaine H., Frank, Gary, Clericuzio, Carol L.

Volltext

Mutations in STAMBP, encoding a deubiquitinating enzyme, cause microcephaly-capillary malformation syndrome von McDonell, LM, Mirzaa, GM, Alcantara, D, Schwartzentruber, J, Carter, MT, Lee, LJ, Clericuzio, CL, Graham, JM, Morris-Rosendahl, DJ, Polster, T, Acsadi, G, Townshend, S, Williams, S, Halbert, A, Isidor, B, David, A, Smyser, CD, Paciorkowski, AR, Willing, M, Woulfe, J, Das, S, Beaulieu, CL, Marcadier, J, Geraghty, MT, Frey, BJ, Majewski, J, Bulman, DE, Dobyns, WB, O'Driscoll, M, Boycott, KM

Volltext

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

Volltext

Diaphragmatic hernia-exomphalos-hypertelorism syndrome: A new case and further evidence of autosomal recessive inheritance von Gripp, Karen W., Donnai, Dian, Clericuzio, Carol L., McDonald-McGinn, Donna M., Guttenberg, Marta, Zackai, Elaine H.

Volltext

Marshall-Smith syndrome: Natural history and evidence of an osteochondrodysplasia with connective tissue abnormalities von Adam, Margaret P., Hennekam, Raoul C.M., Keppen, Laura Davis, Bull, Marilyn J., Clericuzio, Carol L., Burke, Leah W., Ormond, Kelly E., Hoyme, Eugene H.

Volltext

Recognition and management of childhood cancer syndromes: A systems approach von Clericuzio, Carol L.

Volltext