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Volumn 53, Issue 4, 2005, Pages 639-643

Clinical and histopathological findings in Bannayan-Riley-Ruvalcaba syndrome

Author keywords

[No Author keywords available]

Indexed keywords

ARTICLE; AUTOSOMAL DOMINANT DISORDER; BANNAYAN RILEY RUVALCABA SYNDROME; CASE REPORT; CHILD; DIAGNOSTIC PROCEDURE; DISEASE COURSE; FACE MALFORMATION; FOLLOW UP; FRONTAL BOSSING; GENODERMATOSIS; HEMANGIOKERATOMA; HEMANGIOMA; HUMAN; HYPERTELORISM; LIPOMA; MACROCEPHALY; MALE; MUSCULOSKELETAL SYSTEM MALFORMATION; MYOPATHY; PATIENT; PERIPHERAL NEUROPATHY; PHYSICAL EXAMINATION; POLYP; PRIORITY JOURNAL;

EID: 25844530890     PISSN: 01909622     EISSN: None     Source Type: Journal    
DOI: 10.1016/j.jaad.2005.06.022     Document Type: Article
Times cited : (55)

References (25)
  • 1
    • 0026512695 scopus 로고
    • Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes
    • J.H. DiLiberti Correlation of skeletal muscle biopsy with phenotype in the familial macrocephaly syndromes J Med Genet 29 1992 46 49
    • (1992) J Med Genet , vol.29 , pp. 46-49
    • Diliberti, J.H.1
  • 2
    • 0023905733 scopus 로고
    • Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema
    • M. Dvir, S. Beer, and M. Aladjem Heredofamilial syndrome of mesodermal hamartomas, macrocephaly, and pseudopapilledema Pediatrics 81 1988 287 290
    • (1988) Pediatrics , vol.81 , pp. 287-290
    • Dvir, M.1    Beer, S.2    Aladjem, M.3
  • 3
    • 0141890119 scopus 로고    scopus 로고
    • Constipation, polyps, or cancer? Let PTEN predict your future
    • C. Eng Constipation, polyps, or cancer? Let PTEN predict your future Am J Med Genet 122 2003 315 322
    • (2003) Am J Med Genet , vol.122 , pp. 315-322
    • Eng, C.1
  • 4
    • 10744230292 scopus 로고    scopus 로고
    • Bannayan-Riley-Ruvalcaba syndrome: Further delineation of the phenotype and management of PTEN mutation-positive cases
    • Y.M. Hendriks, J.T. Verhallen, J.J. van der Smagt, S.G. Kant, Y. Hilhorst, and L. Hoefsloot Bannayan-Riley-Ruvalcaba syndrome: further delineation of the phenotype and management of PTEN mutation-positive cases Fam Cancer 2 2003 79 85
    • (2003) Fam Cancer , vol.2 , pp. 79-85
    • Hendriks, Y.M.1    Verhallen, J.T.2    Van Der Smagt, J.J.3    Kant, S.G.4    Hilhorst, Y.5    Hoefsloot, L.6
  • 5
    • 0041742215 scopus 로고    scopus 로고
    • Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley- Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway
    • X.P. Zhou, K.A. Waite, R. Pilarski, H. Hampel, M.J. Fernandez, and C. Bos Germline PTEN promoter mutations and deletions in Cowden/Bannayan-Riley- Ruvalcaba syndrome result in aberrant PTEN protein and dysregulation of the phosphoinositol-3-kinase/Akt pathway Am J Hum Genet 73 2003 404 411
    • (2003) Am J Hum Genet , vol.73 , pp. 404-411
    • Zhou, X.P.1    Waite, K.A.2    Pilarski, R.3    Hampel, H.4    Fernandez, M.J.5    Bos, C.6
  • 7
    • 0031875959 scopus 로고    scopus 로고
    • Bannayan-Zonana syndrome: A rare autosomal dominant syndrome with multiple lipomas and hemangiomas: A case report and review of literature
    • M. Gujrati, C. Thomas, A. Zelby, E. Jensen, and J.M. Lee Bannayan-Zonana syndrome: a rare autosomal dominant syndrome with multiple lipomas and hemangiomas: a case report and review of literature Surg Neurol 50 1998 164 168
    • (1998) Surg Neurol , vol.50 , pp. 164-168
    • Gujrati, M.1    Thomas, C.2    Zelby, A.3    Jensen, E.4    Lee, J.M.5
  • 8
    • 0035113511 scopus 로고    scopus 로고
    • Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome
    • M. Wanner, J.T. Celebi, and M. Peacocke Identification of a PTEN mutation in a family with Cowden syndrome and Bannayan-Zonana syndrome J Am Acad Dermatol 44 2001 183 187
    • (2001) J Am Acad Dermatol , vol.44 , pp. 183-187
    • Wanner, M.1    Celebi, J.T.2    Peacocke, M.3
  • 9
    • 15444339425 scopus 로고    scopus 로고
    • Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome
    • D.J. Marsh, S. Roth, K.L. Lunetta, A. Hemminki, P.L. Dahia, and P. Sistonen Exclusion of PTEN and 10q22-24 as the susceptibility locus for juvenile polyposis syndrome Cancer Res 57 1997 5017 5021
    • (1997) Cancer Res , vol.57 , pp. 5017-5021
    • Marsh, D.J.1    Roth, S.2    Lunetta, K.L.3    Hemminki, A.4    Dahia, P.L.5    Sistonen, P.6
  • 10
    • 0033852872 scopus 로고    scopus 로고
    • Mutations of the human PTEN gene
    • D. Bonneau, and M. Longy Mutations of the human PTEN gene Hum Mutat 16 2000 109 122
    • (2000) Hum Mutat , vol.16 , pp. 109-122
    • Bonneau, D.1    Longy, M.2
  • 12
    • 0034090124 scopus 로고    scopus 로고
    • Update on familial cancer syndromes and the skin
    • H. Tsao Update on familial cancer syndromes and the skin J Am Acad Dermatol 42 2000 939 969
    • (2000) J Am Acad Dermatol , vol.42 , pp. 939-969
    • Tsao, H.1
  • 13
    • 0033924904 scopus 로고    scopus 로고
    • An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family
    • J. Perriard, J.H. Saurat, and M. Harms An overlap of Cowden's disease and Bannayan-Riley-Ruvalcaba syndrome in the same family J Am Acad Dermatol 42 2000 348 350
    • (2000) J Am Acad Dermatol , vol.42 , pp. 348-350
    • Perriard, J.1    Saurat, J.H.2    Harms, M.3
  • 14
    • 0036206130 scopus 로고    scopus 로고
    • Protean PTEN: Form and function
    • K.A. Waite, and C. Eng Protean PTEN: form and function Am J Hum Genet 70 2002 829 844
    • (2002) Am J Hum Genet , vol.70 , pp. 829-844
    • Waite, K.A.1    Eng, C.2
  • 16
    • 0034219967 scopus 로고    scopus 로고
    • What syndrome is this? Ruvalcaba-Myhre-Smith syndrome
    • P.R. Bishop, M.J. Nowicki, and P.H. Parker What syndrome is this? Ruvalcaba-Myhre-Smith syndrome Pediatr Dermatol 17 2000 319 321
    • (2000) Pediatr Dermatol , vol.17 , pp. 319-321
    • Bishop, P.R.1    Nowicki, M.J.2    Parker, P.H.3
  • 17
    • 0022511990 scopus 로고
    • Ruvalcaba-Myhre-Smith syndrome: A new consideration in the differential diagnosis of intestinal polyposis
    • M.A. Foster, and R.F. Kilcoyne Ruvalcaba-Myhre-Smith syndrome: a new consideration in the differential diagnosis of intestinal polyposis Gastrointest Radiol 11 1986 349 350
    • (1986) Gastrointest Radiol , vol.11 , pp. 349-350
    • Foster, M.A.1    Kilcoyne, R.F.2
  • 18
    • 0020595287 scopus 로고
    • Ruvalcaba-Myhre-Smith syndrome: A case with probable autosomal-dominant inheritance and additional manifestations
    • J.H. DiLiberti, R.G. Weleber, and S. Budden Ruvalcaba-Myhre-Smith syndrome: a case with probable autosomal-dominant inheritance and additional manifestations Am J Med Genet 15 1983 491 495
    • (1983) Am J Med Genet , vol.15 , pp. 491-495
    • Diliberti, J.H.1    Weleber, R.G.2    Budden, S.3
  • 19
    • 0027204946 scopus 로고
    • Dominantly inherited megalencephaly, muscle weakness, and myoliposis: A carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome
    • B.R. Powell, S.S. Budden, and N.R. Buist Dominantly inherited megalencephaly, muscle weakness, and myoliposis: a carnitine-deficient myopathy within the spectrum of the Ruvalcaba-Myhre-Smith syndrome J Pediatr 123 1993 70 75
    • (1993) J Pediatr , vol.123 , pp. 70-75
    • Powell, B.R.1    Budden, S.S.2    Buist, N.R.3
  • 22
    • 0041304765 scopus 로고    scopus 로고
    • Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes
    • M.M. Cohen Jr. Mental deficiency, alterations in performance, and CNS abnormalities in overgrowth syndromes Am J Med Genet 117 2003 49 56
    • (2003) Am J Med Genet , vol.117 , pp. 49-56
    • Cohen Jr., M.M.1
  • 23
    • 0021359332 scopus 로고
    • A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome
    • J.H. DiLiberti, A.N. D'Agostino, R.H. Ruvalcaba, and J.R. Schimschock A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre- Smith syndrome Am J Med Genet 18 1984 163 167
    • (1984) Am J Med Genet , vol.18 , pp. 163-167
    • Diliberti, J.H.1    D'Agostino, A.N.2    Ruvalcaba, R.H.3    Schimschock, J.R.4
  • 24
    • 2342458960 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome
    • R. Pilarski, and C. Eng Will the real Cowden syndrome please stand up (again)? Expanding mutational and clinical spectra of the PTEN hamartoma tumour syndrome J Med Genet 41 2004 323 326
    • (2004) J Med Genet , vol.41 , pp. 323-326
    • Pilarski, R.1    Eng, C.2
  • 25
    • 0142249981 scopus 로고    scopus 로고
    • Gastrointestinal polyposis in childhood: Clinicopathologic and genetic features
    • A. Lowichik, W.D. Jackson, and C.M. Coffin Gastrointestinal polyposis in childhood: clinicopathologic and genetic features Pediatr Dev Pathol 6 2003 371 391
    • (2003) Pediatr Dev Pathol , vol.6 , pp. 371-391
    • Lowichik, A.1    Jackson, W.D.2    Coffin, C.M.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.