| 1 | DEL7Q36,KCNH2
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| Delineation of the phenotype associated with 7q36.1q36.2 deletion: long QT syndrome, renal hypoplasia and mental retardation.
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| Caselli R, Mencarelli MA, Papa FT, Ariani F, Longo I, Meloni I, Vonella G, Acampa M, Auteri A, Vicari S, Orsi A, Hayek G, Renieri A, Mari F.
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| Am J Med Genet A 146(9):1195-9. 2008
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| 2 | SCRA, MNX1, DEL7Q36
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| Spectrum of HLXB9 gene mutations in Currarino syndrome and genotype-phenotype correlation.
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| CrŽtolle C, Pelet A, Sanlaville D, ZŽrah M, Amiel J, Jaubert F, RŽvillon Y, Baala L, Munnich A, Nihoul-FŽkŽtŽ C, Lyonnet S.
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| Hum Mutat 29(7):903-10. 2008
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| 3 | HPE3, SCRA, MNX1, SHH, DEL7Q36
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| Minimal clinical expression of the holoprosencephaly spectrum and of Currarino syndrome due to different cytogenetic rearrangements deleting the Sonic Hedgehog gene and the HLXB9 gene at 7q36.3.
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| Horn D, Tonnies H, Neitzel H, Wahl D, Hinkel GK, von Moers A, Bartsch O.
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| Am J Med Genet A 128(1):85-92. 2004
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| 4 | MNX1, DEL7Q36
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| Terminal deletion of the chromosome 7(q36-qter) in an infant with sacral agenesis and anterior myelomeningocele.
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| Rodriguez L, Cuadrado Perez I, Herrera Montes J, Lorente Jareno ML, Lopez Grondona F, Martinez-Frias ML.
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| Am J Med Genet 110(1):73-7. 2002
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| 5 | MNX1, SCRA, DEL7Q36
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| Spectrum of mutations and genotype-phenotype analysis in Currarino syndrome.
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| Kochling J, Karbasiyan M, Reis A.
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| Eur J Hum Genet 9(8):599-605. 2001
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| 6 | MNX1, DEL7Q36
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| Involvement of the HLXB9 homeobox gene in Currarino syndrome.
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| Belloni E, Martucciello G, Verderio D, Ponti E, Seri M, Jasonni V, Torre M, Ferrari M, Tsui LC, Scherer SW.
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| Am J Hum Genet 66(1):312-9. No abstract available. 2000
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| 7 | MNX1, SCRA, DEL7Q36
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| Mutation analysis and embryonic expression of the HLXB9 Currarino syndrome gene.
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| Hagan DM, Ross AJ, Strachan T, Lynch SA, Ruiz-Perez V, Wang YM, Scambler P, Custard E, Reardon W, Hassan S, Muenke M, Nixon P, Papapetrou C, Winter RM, Edwards Y, Morrison K, Barrow M, Cordier-Alex MP, Correia P, Galvin-Parton PA, Gaskill S, Gaskin KJ, Garcia-Minaur S, Gereige R, Hayward R, Homfray T.
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| Am J Hum Genet 66(5):1504-15. 2000
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| 8 | DEL7Q36
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| Sacral dysgenesis associated with terminal deletion of chromosome 7q: a report of two families.
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| Wang J, Spitz L, Hayward R, Kiely E, Hall CM, O'Donoghue DP, Palmer R, Goodman FR, Scambler PJ, Winter RM, Reardon W.
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| Eur J Pediatr 158(11):902-5. 1999
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| 9 | DEL7Q36, DUP3P, HPE13
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| Prenatal diagnosis of partial trisomy 3p(3p23-->pter) and monosomy 7q(7q36-->qter) in a fetus with microcephaly alobar holoprosencephaly and cyclopia.
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| Chen CP, Devriendt K, Lee CC, Chen WL, Wang W, Wang TY.
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| Prenat Diagn 19(10):986-9. 1999
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| 10 | DEL7Q36
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| De novo 7q36 deletion: breakpoint analysis and types of holoprosencephaly.
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| Frints SG, Schoenmakers EF, Smeets E, Petit P, Fryns JP.
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| Am J Med Genet 75(2):153-8. Review. 1998
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| 11 | SHH, HPE3, DEL7Q36
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| Cytogenetic rearrangements involving the loss of the sonic hedgehog gene at 7q36 cause holoprosencephaly.
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| Roessler E, Ward DE, Gaudenz K, Belloni E, Scherer SW, Donnai D, Siegel-Bartelt J, Tsui LC, Muenke M.
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| Hum Genet 100(2):172-81. 1997
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| 12 | HPE3, DEL7Q36
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| Different proximal and distal rearrangements of chromosome 7q associated with holoprosencephaly.
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| Benzacken B, Siffroi JP, Le Bourhis C, Krabchi K, Joye N, Maschino F, Viguie F, Soulie J, Gonzales M, Migne G, Bucourt M, Encha-Razavi F, Carbillon L, Taillemite JL.
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| J Med Genet 34(11):899-903. 1997
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