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Volumn 140, Issue 18, 2006, Pages 1965-1969

Bannayan-Riley-Ruvalcaba syndrome with reactive nodular lymphoid hyperplasia and autism and a PTEN mutation [1]

Author keywords

[No Author keywords available]

Indexed keywords

PHOSPHATIDYLINOSITOL 3,4,5 TRISPHOSPHATE 3 PHOSPHATASE;

EID: 33748600700     PISSN: 15524825     EISSN: 15524833     Source Type: Journal    
DOI: 10.1002/ajmg.a.31396     Document Type: Letter
Times cited : (33)

References (23)
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    • Dasouki MJ, Ishmael H, Eng C. 2001. Macrocephaly, macrosomia and autistic behavior due to a de novo PTEN germline mutation. Am J Hum Genet 69:A564.
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    • Dasouki, M.J.1    Ishmael, H.2    Eng, C.3
  • 3
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    • A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome
    • DiLiberti JH, D'Agostino AN, Ruvalcaba RHA, Schimschock JR. 1984. A new lipid storage myopathy observed in individuals with the Ruvalcaba-Myhre-Smith syndrome. Am J Med Genet 18:163-167.
    • (1984) Am J Med Genet , vol.18 , pp. 163-167
    • Diliberti, J.H.1    D'Agostino, A.N.2    Ruvalcaba, R.H.A.3    Schimschock, J.R.4
  • 5
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    • Will the real Cowden syndrome please stand up: Revised diagnostic criteria
    • Eng C. 2000. Will the real Cowden syndrome please stand up: Revised diagnostic criteria. J Med Genet 37:828-830.
    • (2000) J Med Genet , vol.37 , pp. 828-830
    • Eng, C.1
  • 12
    • 0018897892 scopus 로고
    • Nodular lymphoid hyperplasia of the small bowel associated with primary jejunal malignant lymphoma: Evidence favoring a cytogenetic relationship
    • Matuchansky C, Morichau-Beauchant M, Touchard G, Lenormand Y, Bloch P, Tanzer J, Alcalay D, Babin P. 1980. Nodular lymphoid hyperplasia of the small bowel associated with primary jejunal malignant lymphoma: Evidence favoring a cytogenetic relationship. Gastroenterology 78:1587-1592.
    • (1980) Gastroenterology , vol.78 , pp. 1587-1592
    • Matuchansky, C.1    Morichau-Beauchant, M.2    Touchard, G.3    Lenormand, Y.4    Bloch, P.5    Tanzer, J.6    Alcalay, D.7    Babin, P.8
  • 15
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    • The spectrum and evolution of phenotipic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome
    • Parisi MA, Dinulos MB, Leppig KA, Sybert VP, Eng C, Hudgins L. 2001. The spectrum and evolution of phenotipic findings in PTEN mutation positive cases of Bannayan-Riley-Ruvalcaba syndrome. J Med Genet 38:52-58.
    • (2001) J Med Genet , vol.38 , pp. 52-58
    • Parisi, M.A.1    Dinulos, M.B.2    Leppig, K.A.3    Sybert, V.P.4    Eng, C.5    Hudgins, L.6
  • 16
    • 2342458960 scopus 로고    scopus 로고
    • Will the real Cowden syndrome please (again)? Expanding mutational nda clinical spectra of the PTEN hamartoma tumour syndrome
    • Pilarski R, Eng C. 2004. Will the real Cowden syndrome please (again)? Expanding mutational nda clinical spectra of the PTEN hamartoma tumour syndrome. J Med Genet 41:323-326.
    • (2004) J Med Genet , vol.41 , pp. 323-326
    • Pilarski, R.1    Eng, C.2
  • 17
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    • The pathology of so-called Mediterranean abdominal lymphoma with malabsorption
    • Rappaport H, Ramot B, Hulu N, Park JK. 1972. The pathology of so-called Mediterranean abdominal lymphoma with malabsorption. Cancer 29:1502-1511.
    • (1972) Cancer , vol.29 , pp. 1502-1511
    • Rappaport, H.1    Ramot, B.2    Hulu, N.3    Park, J.K.4
  • 18
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    • Macrocephaly, pseudopapilledema and multiple hemangiomata
    • Riley HD, Smith WR. 1960. Macrocephaly, pseudopapilledema and multiple hemangiomata. Pediatrics 26:293-300.
    • (1960) Pediatrics , vol.26 , pp. 293-300
    • Riley, H.D.1    Smith, W.R.2
  • 19
    • 0019195703 scopus 로고
    • Sotos syndrome with intestinal polyposis and pigmentary changes of genitalia
    • Ruvalcaba RH, Myhre S, Smith DW. 1980. Sotos syndrome with intestinal polyposis and pigmentary changes of genitalia. Clin Genet 18:413-416.
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    • Ruvalcaba, R.H.1    Myhre, S.2    Smith, D.W.3
  • 23
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    • Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome
    • Zori R, Marsh DJ, Graham G, Marliss EB, Eng C. 1998. Germline PTEN mutation in a family with Cowden syndrome and Bannayan-Riley-Ruvalcaba syndrome. Am J Med Genet 80: 399-402.
    • (1998) Am J Med Genet , vol.80 , pp. 399-402
    • Zori, R.1    Marsh, D.J.2    Graham, G.3    Marliss, E.B.4    Eng, C.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.