Výsledky vyhledávání - "C. L. Clericuzio"

Hydranencephaly in an infant with vascular malformations

Autor: D A, Stevenson, B L, Hart, C L, Clericuzio

Publikováno v: American journal of medical genetics. 104(4)

Hydranencephaly is a condition in which cerebral hemispheres are absent and reduced to fluid-filled sacs in a normal skull. Numerous causes have been proposed. We report a male infant with hydranencephaly and congenital vascular malformations (port w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::89fd07710d8ce167adab83cd8da24881
https://pubmed.ncbi.nlm.nih.gov/11754063

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Review of radiologic and clinical findings in the recombinant 8 syndrome

Autor: S. L. Williamson, C. L. Clericuzio

Publikováno v: Pediatric Radiology. 21:125-127

The findings, including radiographic findings, in recombinant 8 syndrome, a rare syndrome in patients with an unbalanced partial duplication/partial deletion of chromosome 8, are described. In addition, the carrier status and heritability are discuss

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::218fc7565fc18ff435611d9f248fb0d8
https://doi.org/10.1007/bf02015623

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Recognition and management of childhood cancer syndromes: a systems approach

Autor: C L, Clericuzio

Publikováno v: American journal of medical genetics. 89(2)

Recognition of congenital anomalies that predispose to childhood cancer allows for the institution of a cancer surveillance program, identification of relatives with increased cancer risk, and recurrence risk counseling. In this article, a systems ap

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::57cb6a602405c9e417ba75f21c69de9a
https://pubmed.ncbi.nlm.nih.gov/10559762

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Identification of two novel deletion mutations within the Gs alpha gene (GNAS1) in Albright hereditary osteodystrophy

Autor: D, Yu, S, Yu, V, Schuster, K, Kruse, C L, Clericuzio, L S, Weinstein

Publikováno v: The Journal of clinical endocrinology and metabolism. 84(9)

Albright hereditary osteodystrophy (AHO) is a genetic disorder characterized by short stature, skeletal defects, and obesity. Within AHO kindreds, some affected family members have only the somatic features of AHO [pseudopseudohypoparathyroidism (PPH

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::035517e92bcf454c544a56380d075d8d
https://pubmed.ncbi.nlm.nih.gov/10487696

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Familial occurrence of typical and severe lethal congenital contractural arachnodactyly caused by missplicing of exon 34 of fibrillin-2

Autor: M, Wang, C L, Clericuzio, M, Godfrey

Publikováno v: American journal of human genetics. 59(5)

Genetic linkage studies have linked congenital contractural arachnodactyly (CCA), a usually mild heritable connective-tissue disorder, to FBN2, the fibrillin gene on chromosome 5. Recently, FBN2 mutations in two patients with CCA have been described.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid________::b6205fd2d2060bbd96994de6fb7beadc
https://pubmed.ncbi.nlm.nih.gov/8900230

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Screening for Wilms tumor in high-risk individuals

Autor: C L, Clericuzio, C, Johnson

Publikováno v: Hematology/oncology clinics of North America. 9(6)

Recognition of the association between a variety of genetic syndromes and Wilms tumor has influenced physicians to develop tumor surveillance protocols based on empiric risk estimates. In recent years, clinical evaluation of high-risk individuals has

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https://pubmed.ncbi.nlm.nih.gov/8591963

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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

Autor: E W, Johnson, L M, Iyer, S S, Rich, H T, Orr, A, Gil-Nagel, J H, Kurth, J M, Zabramski, D A, Marchuk, J, Weissenbach, C L, Clericuzio, L E, Davis, B L, Hart, J F, Gusella, B E, Kosofsky, D N, Louis, L A, Morrison, E D, Green, J L, Weber

Publikováno v: Genome research. 5(4)

Cerebral cavernous malformations (CCM) are vascular lesions present in some 20 million people worldwide that are responsible for seizures, migraine, hemorrhage, and other neurologic problems. Familial cases ofCCM can be inherited as an autosomal domi

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::63bb8ed41f135844a9cf07ee727f798c
https://pubmed.ncbi.nlm.nih.gov/8750196

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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?

Autor: T. H. Cushing, S. S. Winter, C. L. Clericuzio

Publikováno v: Journal of Investigative Medicine. 53:S166.1-S166

Transient myeloproliferative disorder (“TMD”) with or without progression to acute megakaryocytic leukemia (“AMKL”) has been reported in association with Down syndrome (“DS”) for the past 40 years. To date, 29 cases of TMD have been repor

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::ddf3393fb0476a5e43f511284169bb67
https://doi.org/10.2310/6650.2005.00005.501

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308 PITFALLS IN MEASURING THE PALPEBRAL FISSURE IN FETAL ALCOHOL SYNDROME: IS OUTER CANTHAL DISTANCE A BETTER PARAMETER?

Autor: J. M. Powers, J. F. Ganem, C. L. Clericuzio

Publikováno v: Journal of Investigative Medicine. 52:S133.3-S133

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_________::f115aafa20b24c758b9cd21f75181e71
https://doi.org/10.1136/jim-52-suppl1-308

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