Mutations in 3 genes (MKS3, CC2D2A and RPGRIP1L) cause COACH syndrome (Joubert syndrome with congenital hepatic fibrosis)
Doherty, D, Parisi, M A, Finn, L S, Gunay-Aygun, M, Al-Mateen, M, Bates, D, Clericuzio, C, Demir, H, Dorschner, M, van Essen, A J, Gahl, W A, Gentile, M, Gorden, N T, Hikida, A, Knutzen, D, Özyurek, H, Phelps, I, Rosenthal, P, Verloes, A, Weigand, H, Chance, P F, Dobyns, W B, Glass, I A
Published in Journal of medical genetics (01.01.2010)
Published in Journal of medical genetics (01.01.2010)
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A ZPR1 mutation is associated with a novel syndrome of growth restriction, distinct craniofacial features, alopecia, and hypoplastic kidneys
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.
Published in Clinical genetics (01.10.2018)
Published in Clinical genetics (01.10.2018)
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Emotion-related learning in individuals prenatally exposed to alcohol: an investigation of the relation between set shifting, extinction of responses, and behavior
Kodituwakku, Piyadasa W, May, Philip A, Clericuzio, Carol L, Weers, David
Published in Neuropsychologia (2001)
Published in Neuropsychologia (2001)
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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?
Cushing, T. H., Winter, S. S., Clericuzio, C. L.
Published in Journal of investigative medicine (01.01.2005)
Published in Journal of investigative medicine (01.01.2005)
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A Locus for Cerebral Cavernous Malformations Maps to Chromosome 7q in Two Families
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.
Published in Genomics (San Diego, Calif.) (20.07.1995)
Published in Genomics (San Diego, Calif.) (20.07.1995)
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Identification of Two Novel Deletion Mutations within the Gsα Gene (GNAS1) in Albright Hereditary Osteodystrophy
Yu, Dawen, Yu, Shuhua, Schuster, Volker, Kruse, Klaus, Clericuzio, Carol L, Weinstein, Lee S
Published in The journal of clinical endocrinology and metabolism (01.09.1999)
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Published in The journal of clinical endocrinology and metabolism (01.09.1999)
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Vascular steal: the pathogenetic mechanism producing sirenomelia and associated defects of the viscera and soft tissues
Stevenson, R E, Jones, K L, Phelan, M C, Jones, M C, Barr, Jr, M, Clericuzio, C, Harley, R A, Benirschke, K
Published in Pediatrics (Evanston) (01.09.1986)
Published in Pediatrics (Evanston) (01.09.1986)
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Terminal 22q deletion syndrome: a newly recognized cause of speech and language disability in the autism spectrum
Manning, Melanie A, Cassidy, Suzanne B, Clericuzio, Carol, Cherry, Athena M, Schwartz, Stuart, Hudgins, Louanne, Enns, Gregory M, Hoyme, H Eugene
Published in Pediatrics (Evanston) (01.08.2004)
Published in Pediatrics (Evanston) (01.08.2004)
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Refined localization of the cerebral cavernous malformation gene (CCM1) to a 4-cM interval of chromosome 7q contained in a well-defined YAC contig
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
Published in Genome research (01.11.1995)
Published in Genome research (01.11.1995)
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Clinical and molecular genetic features of ARC syndrome
GISSEN, Paul, TEE, Louise, FITZPATRICK, David, GARCIA-CAZORLA, Angeles, GUYOT, Delphine, JACQUEMONT, Sebastien, KOLETZKO, Sibylle, LEHEUP, Bruno, MANDEL, Hanna, VIEIRA SANSEVERINO, Maria Teresa, HOUWEN, Roderick H. J, MCKIERNAN, Patrick J, JOHNSON, Colin A, KELLY, Deirdre A, MAHER, Eamonn R, GENIN, Emmanuelle, CALIEBE, Almuth, CHITAYAT, David, CLERICUZIO, Carol, DENECKE, Jonas, DI ROCCO, Maja, FISCHLER, Björn
Published in Human genetics (01.10.2006)
Published in Human genetics (01.10.2006)
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Mutation analysis of the cystic fibrosis transmembrane regulator gene in native American populations of the Southwest
GREBE, T. A, DOANE, W. W, KAPLAN, G, RICHTER, S. F, CLERICUZIO, C, NORMAN, R. A, SELTZER, W. K, RHODES, S. N, GOLDBERG, B. E, HERNRIED, L. S, MCCLURE, M
Published in American journal of human genetics (01.10.1992)
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Published in American journal of human genetics (01.10.1992)
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