| 1 | DEL6QP, MRAP2, SIM1
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| Copy number variation (CNV) analysis and mutation analysis of the 6q14.1-6q16.3 genes SIM1 and MRAP2 in Prader Willi like patients.
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| Geets E, Zegers D, Beckers S, Verrijken A, Massa G, Van Hoorenbeeck K, Verhulst S, Van Gaal L, Van Hul W.
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| Mol Genet Metab. Mar;117(3):383-8. doi: 10.1016/j.ymgme.2016.01.003. Epub 2016 Jan 9 2016
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| 2 | DEL6QP, SIM1
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| Endocrine phenotype of 6q16.1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features.
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| Izumi K, Housam R, Kapadia C, Stallings VA, Medne L, Shaikh TH, Kublaoui BM, Zackai EH, Grimberg A.
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| Am J Med Genet A 161A(12):3137-43. doi: 10.1002/ajmg.a.36149. Epub 2013 Aug 16.
2013
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| 3 | DEL6QP, SIM1
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| Genotype-phenotype correlation in interstitial 6q deletions: a report of 12 new cases.
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| Rosenfeld JA, Amrom D, Andermann E, Andermann F, Veilleux M, Curry C, Fisher J, Deputy S, Aylsworth AS, Powell CM, Manickam K, Heese B, Maisenbacher M, Stevens C, Ellison JW, Upton S, Moeschler J, Torres-Martinez W, Stevens A, Marion R, Pereira EM, Babcock M, Morrow B, Sahoo T, Lamb AN, Ballif BC, Paciorkowski AR, Shaffer LG.
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| Neurogenetics 13(1):31-47. Epub 2012 Jan 5.
2012
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| 4 | DEL6QO, DEL6QP, DUP6QO
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| Phenotypic variability of a deletion and duplication 6q16.1 → q21 due to a paternal balanced ins(7;6)(p15;q16.1q21).
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| Spreiz A, Müller D, Zotter S, Albrecht U, Baumann M, Fauth C, Erdel M, Zschocke J, Utermann G, Kotzot D.
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| Am J Med Genet A 152A(11):2762-7.PMID: 20954245 2010
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| 5 | DEL6QP, SIM1
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| Interstitial Deletions at 6q14.1-q15 Associated with Obesity, Developmental Delay and a Distinct Clinical Phenotype.
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| Wentzel C, Lynch SA, Stattin EL, Sharkey FH, Annerén G, Thuresson AC.
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| Mol Syndromol 1(2):75-81. Epub 2010 Jun 9.PMID: 21045960 2010
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| 6 | DEL6QP, FUT9, GPR63
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| Autistic features with speech delay in a girl with an approximately 1.5-Mb deletion in 6q16.1, including GPR63 and FUT9.
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| Derwiñska K, Bernaciak J, Wi�iowiecka-Kowalnik B, Obersztyn E, Bocian E, Stankiewicz P.
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| Clin Genet lin Genet. 2008 Aug 19. [Epub ahead of print] No abstract available. 2008
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| 7 | DEL6QP, SIM1
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| Detailed phenotype-genotype study in five patients with chromosome 6q16 deletion: narrowing the critical region for Prader-Willi-like phenotype.
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| Bonaglia MC, Ciccone R, Gimelli G, Gimelli S, Marelli S, Verheij J, Giorda R, Grasso R, Borgatti R, Pagone F, Rodrìguez L, Martinez-Frias ML, van Ravenswaaij C, Zuffardi O.
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| Eur J Hum Genet 16(12):1443-9. Epub 2008 Jul 23.
2008
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| 8 | DEL6QP
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| Interstitial deletions of chromosome 6q: genotype-phenotype correlation utilizing array CGH.
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| Klein O, Cotter P, Moore M, Zanko A, Gilats M, Epstein C, Conte F, Rauen K.
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| Clin Genet 71(3):260-6. 2007
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| 9 | DEL6Q24, DEL6QP
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| Interstitial deletion of 6q without phenotypic effect.
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| Hansson K, Szuhai K, Knijnenburg J, van Haeringen A, de Pater J.
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| Am J Med Genet A 143(12):1354-7. 2007
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| 10 | DEL6Q21, DEL6QP, LHDMR, MMEP
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| Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.
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| Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS.
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| Clin Dysmorphol 16(3):135-40. Review. 2007
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| 11 | DEL6QP
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| Further delineation of interstitial chromosome 6 deletion syndrome and review of the literature.
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| Zherebtsov MM, Klein RT, Aviv H, Toruner GA, Hanna NN, Brooks SS.
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| Clin Dysmorphol 16(3):135-40. Review.PMID: 17551325 2007
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| 12 | DEL6QP, SIM1
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| A new case of interstitial 6q16.2 deletion in a patient with Prader-Willi-like phenotype and investigation of SIM1 gene deletion in 87 patients with syndromic obesity.
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| Varela MC, Simoes-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.
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| Eur J Med Genet 49(4):298-305. Epub 2006 Jan 4. 2006
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| 13 | DEL6QP
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| Interstitial 6q deletion: clinical and array CGH characterisation of a new patient.
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| Le Caignec C, Swillen A, Van Asche E, Fryns JP, Vermeesch JR.
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| Eur J Med Genet 48(3):339-45. 2005
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| 14 | SIM1, DEL6QP
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| Deletion of the SIM1 gene (6q16.2) in a patient with a Prader-Willi-like phenotype.
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| Faivre L, Cormier-Daire V, Lapierre JM, Colleaux L, Jacquemont S, Genevieve D, Saunier P, Munnich A, Turleau C, Romana S, Prieur M, De Blois MC, Vekemans M.
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| J Med Genet 39(8):594-6. No abstract available. 2002
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| 15 | SIM1, DEL6QP
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| Sim1 haploinsufficiency causes hyperphagia, obesity and reduction of the paraventricular nucleus of the hypothalamus.
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| Michaud JL, Boucher F, Melnyk A, Gauthier F, Goshu E, Levy E, Mitchell GA, Himms-Hagen J, Fan CM.
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| Hum Mol Genet 10(14):1465-73. 2001
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| 16 | DEL6QP
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| Interstitial 6q deletion with a Prader-Willi-like phenotype: a new case and review of the literature.
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| Gilhuis HJ, van Ravenswaaij CM, Hamel BJ, Gabreels FJ.
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| Eur J Paediatr Neurol 4(1):39-43. Review. 2000
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| 17 | DEL6QP
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| Interstitial 6q deletion and Prader-Willi-like phenotype.
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| Stein CK, Stred SE, Thomson LL, Smith FC, Hoo JJ.
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| Clin Genet 49(6):306-10. 1996
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| 18 | DEL6QP
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| De novo interstitial deletion q16.2q21 on chromosome 6.
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| Villa A, Urioste M, Bofarull JM, Martinez-Frias ML.
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| Am J Med Genet 55(3):379-83. Review. 1995
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| 19 | DEL6QD, DEL6Q24, DEL6QP
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| Monosomy 6q: report on four new cases.
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| Valtat C, Galliano D, Mettey R, Toutain A, Moraine C.
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| Clin Genet 41(3):159-66. Review. 1992
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