| 1 | RAI1, SMS
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| Detection of classical 17p11.2 deletions, an atypical deletion and RAI1 alterations in patients with features suggestive of Smith-Magenis syndrome.
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| Vieira GH, Rodriguez JD, Carmona-Mora P, Cao L, Gamba BF, Carvalho DR, de Rezende Duarte A, Santos SR, de Souza DH, Dupont BR, Walz K, Moretti-Ferreira D, Srivastava AK.
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| Eur J Hum Genet 20(2):148-54. doi: 10.1038/ejhg.2011.167. Epub 2011 Sep 7.
2012
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| 2 | CLOCK, RAI1, SMS
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| Smith-Magenis Syndrome Results in Disruption of CLOCK Gene Transcription and Reveals an Integral Role for RAI1 in the Maintenance of Circadian Rhythmicity.
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| Williams SR, Zies D, Mullegama SV, Grotewiel MS, Elsea SH.
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| Am J Hum Genet 90(6):941-9. Epub 2012 May 10. 2012
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| 3 | RAI1, SMS
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| Molecular Analysis of the Retinoic Acid Induced 1 Gene (RAI1) in Patients with Suspected Smith-Magenis Syndrome without the 17p11.2 Deletion.
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| Vilboux T, Ciccone C, Blancato JK, Cox GF, Deshpande C, Introne WJ, Gahl WA, Smith AC, Huizing M.
|
| PLoS One 6(8):e22861. Epub 2011 Aug 8.
2011
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| 4 | RAI1, SMS
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| Smith-Magenis syndrome: haploinsufficiency of RAI1 results in altered gene regulation in neurological and metabolic pathways.
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| Elsea SH, Williams SR.
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| Expert Rev Mol Med 13:e14. Review.
2011
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| 5 | SMS
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| Hypoventilation in REM sleep in a case of 17p11.2 deletion (Smith-Magenis syndrome).
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| Leoni C, Cesarini L, Dittoni S, Battaglia D, Novelli A, Bernardini L, Losurdo A, Vollono C, Testani E, Della Marca G, Zampino G.
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| Am J Med Genet A 152A(3):708-12.PMID: 20186811 2010
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| 6 | DEL1P36, DEL2Q23, DEL2Q37, SMS
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| Array comparative genomic hybridisation of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage sensitive loci also associated with schizophrenia, autism, and developmental delay.
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| Williams SR, Girirajan S, Tegay D, Nowak N, Hatchwell E, Elsea SH.
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| J Med Genet 47(4):223-9. Epub 2009 Sep 14.PMID: 19752160 2010
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| 7 | BDMR, DEL2Q37, HDAC4, SMS
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| Haploinsufficiency of HDAC4 Causes Brachydactyly Mental Retardation Syndrome, with Brachydactyly Type E, Developmental Delays, and Behavioral Problems.
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| Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.
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| Am J Hum Genet 87(2):219-228.PMID: 20691407 2010
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| 8 | BDNF, RAI1, SMS
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| Rai1 haploinsufficiency causes reduced Bdnf expression resulting in hyperphagia, obesity and altered fat distribution in mice and humans with no evidence of metabolic syndrome.
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| Burns B, Schmidt K, Williams SR, Kim S, Girirajan S, Elsea SH.
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| Hum Mol Genet 19(20):4026-42. Epub 2010 Jul 27.PMID: 20663924 2010
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| 9 | SMS
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| Autism spectrum features in Smith-Magenis syndrome.
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| Laje G, Morse R, Richter W, Ball J, Pao M, Smith AC.
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| Am J Med Genet C Semin Med Genet 154C(4):456-62.PMID: 20981775 2010
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| 10 | SMS
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| Spermine synthase deficiency leads to deafness and a profound sensitivity to alpha-difluoromethylornithine.
|
| Wang X, Levic S, Gratton MA, Doyle KJ, Yamoah EN, Pegg AE.
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| J Biol Chem 284(2):930-7. Epub 2008 Nov 10.
2009
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| 11 | RAI1, SMS
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| A functional network module for Smith-Magenis syndrome.
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| Girirajan S, Truong H, Blanchard C, Elsea S.
|
| Clin Genet lin Genet. 2009 Feb 17. [Epub ahead of print]
2009
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| 12 | SMS
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| Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.
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| Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, Jones M, Chandrasekharappa SC, Lewy AJ, Smith AC, Magenis RE.
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| Am J Med Genet A 149A(7):1382-1391. [Epub ahead of print]
2009
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| 13 | SMS, SROS
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| A missense mutation, p.V132G, in the X-linked spermine synthase gene (SMS) causes Snyder-Robinson syndrome.
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| Becerra-Solano LE, Butler J, Castañeda-Cisneros G, McCloskey DE, Wang X, Pegg AE, Schwartz CE, Sánchez-Corona J, García-Ortiz JE.
|
| Am J Med Genet A 149A(3):328-35.
2009
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| 14 | RAI1, SMS
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| Array comparative genomic hybridization of 52 subjects with a Smith-Magenis-like phenotype: identification of dosage-sensitive loci also associated with schizophrenia, autism, and developmental delay.
|
| Williams SR, Girirajan S, Tegay D, Nowak NJ, Hatchwell E, Elsea SH.
|
| J Med Genet Med Genet. 2009 Sep 14. [Epub ahead of print]
2009
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| 15 | DUP17P11, RAI1, SMS
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| How much is too much? Phenotypic consequences of Rai1 overexpression in mice.
|
| Girirajan S, Patel N, Slager RE, Tokarz ME, Bucan M, Wiley JL, Elsea SH.
|
| Eur J Hum Genet 16(8):941-54. Epub 2008 Feb 20.
2008
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| 16 | SMS
|
| Smith-Magenis syndrome.
|
| Elsea SH, Girirajan S.
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| Eur J Hum Genet 16(4):412-21. Epub 2008 Jan 30. 2008
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| 17 | AS, DEL22Q11, DUP15Q12, DUP17P12, DUP22Q11, DUP7Q11, FRAXA, PWS, RTT, SMS, WBS
|
| Failure of neuronal homeostasis results in common neuropsychiatric phenotypes.
|
| Ramocki MB, Zoghbi HY.
|
| Nature 455(7215):912-8.
2008
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| 18 | SMS, SROS
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| New SMS mutation leads to a striking reduction in spermine synthase protein function and a severe form of Snyder-Robinson X-linked recessive mental retardation syndrome.
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| de Alencastro G, McCloskey DE, Kliemann SE, Maranduba CM, Pegg AE, Wang X, Bertola DR, Schwartz CE, Passos-Bueno MR, Sertié AL.
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| J Med Genet 45(8):539-43. Epub 2008 Jun 11.
2008
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| 19 | SMS, SRM
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| Crystal structure of human spermine synthase: implications of substrate binding and catalytic mechanism.
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| Wu H, Min J, Zeng H, McCloskey DE, Ikeguchi Y, Loppnau P, Michael AJ, Pegg AE, Plotnikov AN.
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| J Biol Chem 283(23):16135-46. Epub 2008 Mar 26.
2008
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| 20 | SMS, RAI1
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| Gender, genotype, and phenotype differences in Smith-Magenis syndrome: a meta-analysis of 105 cases.
|
| Edelman E, Girirajan S, Finucane B, Patel P, Lupski J, Smith A, Elsea S.
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| Clin Genet 71(6):540-550. 2007
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| 21 | SMS,UBB
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| Genotype-phenotype correlation of 30 Smith-Magenis Syndrome patients using CGH-array: cleft palate in SMS is associated with larger deletions.
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| Andrieux J, Villenet C, Quief S, Lignon S, Geffroy S, Roumier C, de Leersnyder H, de Blois MC, Manouvrier S, Delobel B, Benzacken B, Bitoun P, Attie-Bitach T, Thomas S, Lyonnet S, Vekemans M, Kerckaert JP.
|
| J Med Genet [Epub ahead of print] 2007
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| 22 | DEL18QD, DEL9Q34, SMS, WBS
|
| Novel microdeletion syndromes.
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| Krantz ID, Spinner NB.
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| Am J Med Genet C Semin Med Genet 145C(4):323-6. Review. No abstract available.
2007
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| 23 | SMS
|
| Genotype-phenotype correlation in Smith-Magenis syndrome: evidence that multiple genes in 17p11.2 contribute to the clinical spectrum.
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| Girirajan S, Vlangos CN, Szomju BB, Edelman E, Trevors CD, Dupuis L, Nezarati M, Bunyan DJ, Elsea SH.
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| Genet Med 8(7):417-27. 2006
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| 24 | RAI1, SMS
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| RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.
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| Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.
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| Am J Med Genet A 140(22):2454-63. 2006
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| 25 | SMS
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| Neurologic and developmental features of the Smith-Magenis syndrome (del 17p11.2).
|
| Gropman AL, Duncan WC, Smith AC.
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| Pediatr Neurol 34(5):337-50. Review. 2006
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| 26 | SMS
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| Non-recurrent 17p11.2 deletions are generated by homologous and non-homologous mechanisms.
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| Shaw CJ, Lupski JR.
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| Hum Genet 116(1-2):1-7. Epub 2004 Oct 22. 2005
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| 27 | RAI1, SMS
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| Inactivation of Rai1 in mice recapitulates phenotypes observed in chromosome engineered mouse models for Smith-Magenis syndrome.
|
| Bi W, Ohyama T, Nakamura H, Yan J, Visvanathan J, Justice MJ, Lupski JR.
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| Hum Mol Genet 14(8):983-95. Epub 2005 Mar 3. 2005
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| 28 | SMS
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| Detection and delineation of an unusual 17p11.2 deletion by array-CGH and refinement of the Smith-Magenis syndrome minimum deletion to ~650 kb.
|
| Schoumans J, Staaf J, Jonsson G, Rantala J, Zimmer KS, Borg A, Nordenskjold M, Anderlid BM.
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| Eur J Med Genet 48(3):290-300. 2005
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| 29 | SMS, RAI1
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| RAI1 variations in Smith-Magenis syndrome patients without 17p11.2 deletions.
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| Girirajan S, Elsas LJ 2nd, Devriendt K, Elsea SH.
|
| J Med Genet 42(11):820-8. Epub 2005 Mar 23. 2005
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| 30 | ABCB7, AMMECR1, APOOL, ARHGEF9, ARL13A, ASMTL, BMP2KL, CDK5R2, CHIC1, COX7B, CT55, CXorf1, CXorf31, CXorf40A, CXorf58, CXorf59, FTHL19, GAGE12H, GAGE12J, GAGE13, GAGE2C, GAGE2E, GCA, ITM2A, KLHL4, MAGEB1, MBTPS2, MMADHC, MORC4, NOL10, PAGE4, PIH1D3, RAB33A, RAB40AL, SCML1, SMS, SSX10, STRN, TBR1, ZXDB
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| The DNA sequence of the human X chromosome.
|
| Ross MT, Grafham DV, Coffey AJ, Scherer S, McLay K, Muzny D, Platzer M, Howell GR, Burrows C, Bird CP, Frankish A, Lovell FL, Howe KL, Ashurst JL, Fulton RS, Sudbrak R, Wen G, Jones MC, Hurles ME, Andrews TD, Scott CE, Searle S, Ramser J, Whittaker A, Deadman R, Carter NP, Hunt SE, Chen R, Cree A, Gunaratne P, Havlak P, Hodgson A, Metzker ML, Richards S, Scott G, Steffen D, Sodergren E, Wheeler DA, Worley KC, Ainscough R, Ambrose KD, Ansari-Lari MA, Aradhya S, Ashwell RI, Babbage AK, Bagguley CL, Ballabio A, Banerjee R, Barker GE, Barlow KF, Barrett IP, Bates KN, Beare DM, Beasley H, Beasley O, Beck A, Bethel G, Blechschmidt K, Brady N, Bray-Allen S, Bridgeman AM, Brown AJ, Brown MJ, Bonnin D, Bruford EA, Buhay C, Burch P, Burford D, Burgess J, Burrill W, Burton J, Bye JM, Carder C, Carrel L, Chako J, Chapman JC, Chavez D, Chen E, Chen G, Chen Y, Chen Z, Chinault C, Ciccodicola A, Clark SY, Clarke G, Clee CM, Clegg S, Clerc-Blankenburg K, Clifford K, Cobley V, Cole CG, Conquer JS, Corby N, Connor RE, David R, Davies J, Davis C, Davis J, Delgado O, Deshazo D, Dhami P, Ding Y, Dinh H, Dodsworth S, Draper H, Dugan-Rocha S, Dunham A, Dunn M, Durbin KJ, Dutta I, Eades T, Ellwood M, Emery-Cohen A, Errington H, Evans KL, Faulkner L, Francis F, Frankland J, Fraser AE, Galgoczy P, Gilbert J, Gill R, Glockner G, Gregory SG, Gribble S, Griffiths C, Grocock R, Gu Y, Gwilliam R, Hamilton C, Hart EA, Hawes A, Heath PD, Heitmann K, Hennig S, Hernandez J, Hinzmann B, Ho S, Hoffs M, Howden PJ, Huckle EJ, Hume J, Hunt PJ, Hunt AR, Isherwood J, Jacob L, Johnson D, Jones S, de Jong PJ, Joseph SS, Keenan S, Kelly S, Kershaw JK, Khan Z, Kioschis P, Klages S, Knights AJ, Kosiura A, Kovar-Smith C, Laird GK, Langford C, Lawlor S, Leversha M, Lewis L, Liu W, Lloyd C, Lloyd DM, Loulseged H, Loveland JE, Lovell JD, Lozado R, Lu J, Lyne R, Ma J, Maheshwari M, Matthews LH, McDowall J, McLaren S, McMurray A, Meidl P, Meitinger T, Milne S, Miner G, Mistry SL, Morgan M, Morris S, Muller I, Mullikin JC, Nguyen N, Nordsiek G, Nyakatura G, O'Dell CN, Okwuonu G, Palmer S, Pandian R, Parker D, Parrish J, Pasternak S, Patel D, Pearce AV, Pearson DM, Pelan SE, Perez L, Porter KM, Ramsey Y, Reichwald K, Rhodes S, Ridler KA, Schlessinger D, Schueler MG, Sehra HK, Shaw-Smith C, Shen H, Sheridan EM, Shownkeen R, Skuce CD, Smith ML, Sotheran EC, Steingruber HE, Steward CA, Storey R, Swann RM, Swarbreck D, Tabor PE, Taudien S, Taylor T, Teague B, Thomas K, Thorpe A, Timms K, Tracey A, Trevanion S, Tromans AC, d'Urso M, Verduzco D, Villasana D, Waldron L, Wall M, Wang Q, Warren J, Warry GL, Wei X, West A, Whitehead SL, Whiteley MN, Wilkinson JE, Willey DL, Williams G, Williams L, Williamson A, Williamson H, Wilming L, Woodmansey RL, Wray PW, Yen J, Zhang J, Zhou J, Zoghbi H, Zorilla S, Buck D, Reinhardt R, Poustka A, Rosenthal A, Lehrach H, Meindl A, Minx PJ, Hillier LW, Willard HF, Wilson RK, Waterston RH, Rice CM, Vaudin M, Coulson A, Nelson DL, Weinstock G, Sulston JE, Durbin R, Hubbard T, Gibbs RA, Beck S, Rogers J, Bentley DR.
|
| Nature 434(7031):325-37. 2005
|
| 31 | SMCR, SMS
|
| Reduced penetrance of craniofacial anomalies as a function of deletion size and genetic background in a chromosome engineered partial mouse model for Smith-Magenis syndrome.
|
| Yan J, Keener VW, Bi W, Walz K, Bradley A, Justice MJ, Lupski JR.
|
| Hum Mol Genet 13(21):2613-24. Epub 2004 Sep 30. 2004
|
| 32 | RAI1, SMS, SMCR
|
| Mutations of RAI1, a PHD-containing protein, in nondeletion patients with Smith-Magenis syndrome.
|
| Bi W, Saifi GM, Shaw CJ, Walz K, Fonseca P, Wilson M, Potocki L, Lupski JR.
|
| Hum Genet 115(6):515-24. Epub 2004 Sep 30. 2004
|
| 33 | SMS, DUP17P11
|
| Behavioral characterization of mouse models for Smith-Magenis syndrome and dup(17)(p11.2p11.2).
|
| Walz K, Spencer C, Kaasik K, Lee CC, Lupski JR, Paylor R.
|
| Hum Mol Genet 13(4):367-78. Epub 2004 Jan 6. 2004
|
| 34 | SMS, DUP17P11, CMT1A, HNPP
|
| Comparative genomic hybridisation using a proximal 17p BAC/PAC array detects rearrangements responsible for four genomic disorders.
|
| Shaw CJ, Shaw CA, Yu W, Stankiewicz P, White LD, Beaudet AL, Lupski JR.
|
| J Med Genet 41(2):113-9. 2004
|
| 35 | RAI1, SMS
|
| Mutations in RAI1 associated with Smith-Magenis syndrome.
|
| Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH.
|
| Nat Genet 33(4):466-8. 2003
|
| 36 | SMS, KER, CCDC144A, TL132, SMCR
|
| Reciprocal crossovers and a positional preference for strand exchange in recombination events resulting in deletion or duplication of chromosome 17p11.2.
|
| Bi W, Park SS, Shaw CJ, Withers MA, Patel PI, Lupski JR.
|
| Am J Hum Genet 73(6):1302-15. Epub 2003 Nov 24. 2003
|
| 37 | SMCR, SMS
|
| Variability in clinical phenotype despite common chromosomal deletion in Smith-Magenis syndrome [del(17)(p11.2p11.2)].
|
| Potocki L, Shaw CJ, Stankiewicz P, Lupski JR.
|
| Genet Med 5(6):430-4. 2003
|
| 38 | RAI1, SMS, SMS-REPD, SMS-REPM, SMS-REPP
|
| Refinement of the Smith-Magenis syndrome critical region to approximately 950kb and assessment of 17p11.2 deletions. Are all deletions created equally?
|
| Vlangos CN, Yim DK, Elsea SH.
|
| Mol Genet Metab 79(2):134-41. 2003
|
| 39 | SMS
|
| X-linked spermine synthase gene (SMS) defect: the first polyamine deficiency syndrome.
|
| Cason AL, Ikeguchi Y, Skinner C, Wood TC, Holden KR, Lubs HA, Martinez F, Simensen RJ, Stevenson RE, Pegg AE, Schwartz CE.
|
| Eur J Hum Genet 11(12):937-44.
2003
|
| 40 | DUP17P11, SMS, SMS-REPD, SMS-REPM, SMS-REPP
|
| Genetic proof of unequal meiotic crossovers in reciprocal deletion and duplication of 17p11.2.
|
| Shaw CJ, Bi W, Lupski JR.
|
| Am J Hum Genet 71(5):1072-81. Epub 2002 Oct 9. 2002
|
| 41 | ALKBH5, ATPAF2, C17orf39, COPS3, LLGL1, MED9, MIEF2, RAI1, RASD1, SMCR, SMCR2, SMCR3, SMCR4, SMCR5, SMCR6, SMCR8, SMCR9, SMS, SMS-REPD, SMS-REPM, SMS-REPP, TOM1L2
|
| Genes in a refined Smith-Magenis syndrome critical deletion interval on chromosome 17p11.2 and the syntenic region of the mouse.
|
| Bi W, Yan J, Stankiewicz P, Park SS, Walz K, Boerkoel CF, Potocki L, Shaffer LG, Devriendt K, Nowaczyk MJ, Inoue K, Lupski JR.
|
| Genome Res 12(5):713-28. 2002
|
| 42 | EEF1A3, RASD1, SMS, SMS-REPD, SMS-REPM, SMS-REPP, SRP68, ZBTB20, ZNF287
|
| Genomic organisation of the approximately 1.5 Mb Smith-Magenis syndrome critical interval: transcription map, genomic contig, and candidate gene analysis.
|
| Lucas RE, Vlangos CN, Das P, Patel PI, Elsea SH.
|
| Eur J Hum Genet 9(12):892-902. 2001
|
| 43 | SMS
|
| Characterization of self-injurious behaviors in children and adults with Smith-Magenis syndrome.
|
| Finucane B, Dirrigl KH, Simon EW.
|
| Am J Ment Retard 106(1):52-8. 2001
|
| 44 | SMS
|
| beta(1)-adrenergic antagonists improve sleep and behavioural disturbances in a circadian disorder, Smith-Magenis syndrome.
|
| De Leersnyder H, de Blois MC, Vekemans M, Sidi D, Villain E, Kindermans C, Munnich A.
|
| J Med Genet 38(9):586-90. 2001
|
| 45 | SMS
|
| Inversion of the circadian rhythm of melatonin in the Smith-Magenis syndrome.
|
| De Leersnyder H, De Blois MC, Claustrat B, Romana S, Albrecht U, Von Kleist-Retzow JC, Delobel B, Viot G, Lyonnet S, Vekemans M, Munnich A.
|
| J Pediatr 139(1):111-6. 2001
|
| 46 | SMS
|
| Circadian rhythm abnormalities of melatonin in Smith-Magenis syndrome.
|
| Potocki L, Glaze D, Tan DX, Park SS, Kashork CD, Shaffer LG, Reiter RJ, Lupski JR.
|
| J Med Genet 37(6):428-33. 2000
|
| 47 | DFNB3, SMS
|
| A physical map of the mouse shaker-2 region contains many of the genes commonly deleted in Smith-Magenis syndrome (del 17p11.2p11.2)
|
| Probst FJ, et al.
|
| Genomics 55 : 348-352. 1999
|
| 48 | CDW52L, DRAP1, GRAP, IL6STP, MEIS3P1, RAI1, RANBP1, RPS3L1, SMS, TOM1L2
|
| Transcription mapping in a medulloblastoma breakpoint interval and smith-magenis syndrome candidate region: identification of 53 transcriptional units and new candidate genes.
|
| Seranski P, et al.
|
| Genomics 56(1):1-11. 1999
|
| 49 | SMS
|
| The face of Smith-Magenis syndrome: a subjective and objective study.
|
| Allanson JE, Greenberg F, Smith AC.
|
| J Med Genet 36(5):394-7. 1999
|
| 50 | SMS
|
| Smith-Magenis syndrome resulting from a de novo direct insertion of proximal 17q into 17p11.2.
|
| Park JP, et al.
|
| Am J Med Genet 77 : 23-27. 1998
|
| 51 | SMS
|
| Molecular analysis of deletion (17)(p11.2p11.2) in a family segregating a 17p paracentric inversion: implications for carriers of paracentric inversions.
|
| Yang SP, Bidichandani SI, Figuera LE, Juyal RC, Saxon PJ, Baldini A, Patel PI.
|
| Am J Hum Genet 60(5):1184-93. 1997
|
| 52 | SMS, TSG17E
|
| Molecular characterization of a genetically unstable region containing the SMS critical area and a breakpoint cluster for human PNETs.
|
| Wilgenbus KK, Seranski P, Brown A, Leuchs B, Mincheva A, Lichter P, Poustka A.
|
| Genomics 42(1):1-10. 1997
|
| 53 | RNF112, SMS
|
| The brain finger protein gene (ZNF179), a member of the RING finger family, maps within the Smith-Magenis syndrome region at 17p11.2.
|
| Kimura T, et al.
|
| Am J Med Genet 69 : 320-324. 1997
|
| 54 | PHEX, SMS
|
| Sequence analysis of 139 kb in Xp22.1 containing spermine synthase and the 5' region of PEX.
|
| Grieff M, Whyte MP, Thakker RV, Mazzarella R.
|
| Genomics 44(2):227-31. 1997
|
| 55 | SMS, COTL1
|
| Homologous recombination of a flanking repeat gene cluster is a mechanism for a common contiguous gene deletion syndrome.
|
| Chen KS, et al.
|
| Nat Genet 17(2):154-63. 1997
|
| 56 | SMS
|
| Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2).
|
| Greenberg F, et al.
|
| Am J Med Genet 62 : 247-254. 1996
|
| 57 | SMS
|
| Molecular analyses of 17p11.2 deletions in 62 Smith-Magenis syndrome patients.
|
| Juyal RC, et al.
|
| Am J Hum Genet 58 : 998-1007. 1996
|
| 58 | SMS
|
| Quantification by flow cytometry of chromosome-17 deletions in Smith-Magenis syndrome patients.
|
| Trask BJ, et al.
|
| Hum Genet 98 : 710-718. 1996
|
| 59 | SMS
|
| Multi-disciplinary clinical study of Smith-Magenis syndrome (deletion 17p11.2)
|
| Greenberg F, Lewis RA, Potocki L, Glaze D, Parke J, Killian J, Murphy MA, Williamson D, Brown F, Dutton R, McCluggage C, Friedman E, Sulek M, Lupski JR.
|
| Am J Med Genet 62(3):247-54. 1996
|
| 60 | SHMT1, SMS
|
| Haploinsufficiency of cytosolic serine hydroxymethyltransferase in the Smith-Magenis syndrome.
|
| Elsea SH, et al.
|
| Am J Hum Genet 57 : 1342-1350. 1995
|
| 61 | MFAP4, SMS
|
| The gene for a human microfibril-associated glycoprotein is commonly deleted in Smith-Magenis sydrome patients.
|
| Zhao Z, et al.
|
| Hum Mol Genet 4 : 589-597. 1995
|
| 62 | SMS
|
| Smith-Magenis syndrome deletion : a case with equivocal cytogenetic findings resolved by fluorescence in situ hybridization.
|
| Juyal RC, et al.
|
| Am J Med Genet 58 : 286-291. 1995
|
| 63 | SMS, FLII
|
| The human homologue of the Drosophila melanogaster flightless-I gene (flil) maps within the Smith-Magenis microdeletion critical region in 17p11.2.
|
| Chen KS, et al.
|
| Am J Hum Genet 56 : 175-182. 1995
|
| 64 | SMS
|
| Molecular cloning of a cDNA encoding human spermine synthase.
|
| Korhonen VP, et al.
|
| DNA Cell Biol 14 : 841-847. 1995
|
| 65 | SMS, CMT1A
|
| Relationship between Charcot-Marie-Tooth 1A and Smith-Magenis regions. snU3 may be a candidate gene for the Smith-Magenis syndrome.
|
| Chevillard C, et al.
|
| Hum Mol Genet 2 : 1235-1243. 1993
|
| 66 | SMS
|
| Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion.
|
| Zori RT, et al.
|
| Am J Med Genet 47 : 504-511. 1993
|
| 67 | SMS
|
| Physical mapping of microdeletions of the chromosome 17 short arm associated with Smith-Magenis syndrome.
|
| Moncla A, et al.
|
| Hum Genet 90 : 657-660. 1993
|
| 68 | SMS, SROS
|
| Gene localization and clinical redefinition of the Snyder-Robinson syndrome.
|
| Arena JF, et al.
|
| Am J Hum Genet 51 : A181. 1992
|
| 69 | SMS
|
| Smith-Magenis syndrome : a new contiguous gene syndrome. Report of three new cases.
|
| Moncla A, et al.
|
| J Med Genet 28 : 627-632. 1991
|
| 70 | SMS
|
| Diagnostic hand anomalies in Smith-Magenis syndrome : four new patients with del (17)(p11.2p11.2).
|
| Kondo I, et al.
|
| Am J Med Genet 41 : 225-229. 1991
|
| 71 | SMS
|
| Molecular analysis of the Smith-Magenis syndrome : a possible contiguous-gene syndrome associated with del(17)(p11.2).
|
| Greenberg F, et al.
|
| Am J Hum Genet 49 : 1207-1218. 1991
|
| 72 | SMS
|
| Interstitial deletion of 17p11.2 : case report and review.
|
| Hammill MA, et al.
|
| Ann Genet 31 : 36-38. 1988
|
| 73 | SMS
|
| Interstitial deletion of (17)(p11.2p11.2) : report of six additional patients with a new chromosome deletion syndrome.
|
| Stratton RF, et al.
|
| Am J Med Genet 24 : 421-432. 1986
|
| 74 | SMS
|
| Interstitial deletion of (17)(p11.2p11.2) in nine patients.
|
| Smith ACM, et al.
|
| Am J Med Genet 24 : 393-414. 1986
|