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Items: 1 to 50 of 135

1.

Haploinsufficiency of HDAC4 causes brachydactyly mental retardation syndrome, with brachydactyly type E, developmental delays, and behavioral problems.

Williams SR, Aldred MA, Der Kaloustian VM, Halal F, Gowans G, McLeod DR, Zondag S, Toriello HV, Magenis RE, Elsea SH.

Am J Hum Genet. 2010 Aug 13;87(2):219-28. doi: 10.1016/j.ajhg.2010.07.011.

2.

Cytogenetic analysis of a primary bone angiosarcoma.

Dunlap JB, Magenis RE, Davis C, Himoe E, Mansoor A.

Cancer Genet Cytogenet. 2009 Oct;194(1):1-3. doi: 10.1016/j.cancergencyto.2009.04.008.

PMID:
19737647
3.

Review of disrupted sleep patterns in Smith-Magenis syndrome and normal melatonin secretion in a patient with an atypical interstitial 17p11.2 deletion.

Boudreau EA, Johnson KP, Jackman AR, Blancato J, Huizing M, Bendavid C, Jones M, Chandrasekharappa SC, Lewy AJ, Smith AC, Magenis RE.

Am J Med Genet A. 2009 Jul;149A(7):1382-91. doi: 10.1002/ajmg.a.32846.

4.

Cytogenetic analysis of a hemosiderotic fibrolipomatous tumor.

Wettach GR, Boyd LJ, Lawce HJ, Magenis RE, Mansoor A.

Cancer Genet Cytogenet. 2008 Apr 15;182(2):140-3. doi: 10.1016/j.cancergencyto.2008.01.012.

PMID:
18406878
5.

Specific extra chromosomes occur in a modal number dependent pattern in pediatric acute lymphoblastic leukemia.

Heerema NA, Raimondi SC, Anderson JR, Biegel J, Camitta BM, Cooley LD, Gaynon PS, Hirsch B, Magenis RE, McGavran L, Patil S, Pettenati MJ, Pullen J, Rao K, Roulston D, Schneider NR, Shuster JJ, Sanger W, Sutcliffe MJ, van Tuinen P, Watson MS, Carroll AJ.

Genes Chromosomes Cancer. 2007 Jul;46(7):684-93.

6.

Chondromyxoid fibroma of the nasal cavity with an interstitial insertion between chromosomes 6 and 19.

Smith CA, Magenis RE, Himoe E, Smith C, Mansoor A.

Cancer Genet Cytogenet. 2006 Dec;171(2):97-100.

PMID:
17116486
7.

Sexual maldevelopment and sex reversal, chromosomal causes.

Magenis RE.

J Assoc Genet Technol. 2006;32(3):72-82.

PMID:
17060692
8.

RAI1 point mutations, CAG repeat variation, and SNP analysis in non-deletion Smith-Magenis syndrome.

Bi W, Saifi GM, Girirajan S, Shi X, Szomju B, Firth H, Magenis RE, Potocki L, Elsea SH, Lupski JR.

Am J Med Genet A. 2006 Nov 15;140(22):2454-63.

PMID:
17041942
9.

Angelman syndrome 2005: updated consensus for diagnostic criteria.

Williams CA, Beaudet AL, Clayton-Smith J, Knoll JH, Kyllerman M, Laan LA, Magenis RE, Moncla A, Schinzel AA, Summers JA, Wagstaff J.

Am J Med Genet A. 2006 Mar 1;140(5):413-8.

PMID:
16470747
10.

Overview of Smith-Magenis syndrome.

Smith AC, Magenis RE, Elsea SH.

J Assoc Genet Technol. 2005;31(4):163-7.

PMID:
16354942
11.

Meiotic exchange event within the stalk region of an inverted chromosome 22 results in a recombinant chromosome with duplication of the distal long arm.

Boyd LJ, Livingston JS, Brown MG, Lawce HJ, Gilhooly JT, Wildin RS, Linck LM, Magenis RE, Pillers DA.

Am J Med Genet A. 2005 Nov 1;138(4):355-60.

PMID:
16177985
12.

Mosaicism of proximal 15q duplication/deletion resulting in Prader-Willi syndrome with normal methylation.

Boyd L, Brown MG, Kelson S, Lawce H, Shuttleworth S, Unsworth N, Magenis RE.

Am J Med Genet A. 2005 Oct 1;138A(2):181-4. No abstract available.

PMID:
16100727
13.

Y chromosome heterochromatin of differing lengths in two cell populations of the same individual.

Akkari Y, Lawce H, Kelson S, Smith C, Davis C, Boyd L, Magenis RE, Olson S.

Prenat Diagn. 2005 Apr;25(4):304-6.

PMID:
15849801
14.

Myxoinflammatory fibroblastic sarcoma with complex supernumerary ring chromosomes composed of chromosome 3 segments.

Mansoor A, Fidda N, Himoe E, Payne M, Lawce H, Magenis RE.

Cancer Genet Cytogenet. 2004 Jul 1;152(1):61-5.

PMID:
15193443
15.

Demonstration of Philadelphia chromosome negative abnormal clones in patients with chronic myelogenous leukemia during major cytogenetic responses induced by imatinib mesylate.

O'Dwyer ME, Gatter KM, Loriaux M, Druker BJ, Olson SB, Magenis RE, Lawce H, Mauro MJ, Maziarz RT, Braziel RM.

Leukemia. 2003 Mar;17(3):481-7.

PMID:
12646934
16.

Hematopathologic and cytogenetic findings in imatinib mesylate-treated chronic myelogenous leukemia patients: 14 months' experience.

Braziel RM, Launder TM, Druker BJ, Olson SB, Magenis RE, Mauro MJ, Sawyers CL, Paquette RL, O'Dwyer ME.

Blood. 2002 Jul 15;100(2):435-41.

PMID:
12091333
17.

SNRPN methylation patterns in germ cell tumors as a reflection of primordial germ cell development.

Bussey KJ, Lawce HJ, Himoe E, Shu XO, Heerema NA, Perlman EJ, Olson SB, Magenis RE.

Genes Chromosomes Cancer. 2001 Dec;32(4):342-52.

PMID:
11746975
18.

Amphetamine, 3,4-methylenedioxymethamphetamine, lysergic acid diethylamide, and metabolites of the catecholamine neurotransmitters are agonists of a rat trace amine receptor.

Bunzow JR, Sonders MS, Arttamangkul S, Harrison LM, Zhang G, Quigley DI, Darland T, Suchland KL, Pasumamula S, Kennedy JL, Olson SB, Magenis RE, Amara SG, Grandy DK.

Mol Pharmacol. 2001 Dec;60(6):1181-8.

PMID:
11723224
19.

Interstitial duplication of the short arm of chromosome 1 in a newborn with congenital heart disease and multiple malformations.

Warden CR, Pillers DA, Rice MJ, Wildes J, Livingston JS, Clark BA, Gilhooly JT, Magenis RE.

Am J Med Genet. 2001 Jun 15;101(2):100-5.

PMID:
11391651
20.

Chromosomes 1 and 12 abnormalities in pediatric germ cell tumors by interphase fluorescence in situ hybridization.

Bussey KJ, Lawce HJ, Himoe E, Shu XO, Suijkerbuijk RF, Olson SB, Magenis RE.

Cancer Genet Cytogenet. 2001 Mar;125(2):112-8.

PMID:
11369053
21.

Trisomy 20 mosaicism in two unrelated girls with skin hypopigmentation and normal intellectual development.

Baty BJ, Olson SB, Magenis RE, Carey JC.

Am J Med Genet. 2001 Mar 15;99(3):210-6. Review.

PMID:
11241492
22.

Chromosome abnormalities of eighty-one pediatric germ cell tumors: sex-, age-, site-, and histopathology-related differences--a Children's Cancer Group study.

Bussey KJ, Lawce HJ, Olson SB, Arthur DC, Kalousek DK, Krailo M, Giller R, Heifetz S, Womer R, Magenis RE.

Genes Chromosomes Cancer. 1999 Jun;25(2):134-46.

PMID:
10337997
23.

Clinical outcomes of four patients with microdeletion in the long arm of chromosome 2.

McMilin KD, Reiss JA, Brown MG, Black MH, Buckmaster DA, Durum CT, Gunter KA, Lawce HJ, Berry TL, Lamb OA, Olson CL, Weeks FF, Yoshitomi MJ, Jacky PB, Olson SB, Magenis RE.

Am J Med Genet. 1998 Jun 16;78(1):36-43.

PMID:
9637421
24.

DNA cross-linker-induced G2/M arrest in group C Fanconi anemia lymphoblasts reflects normal checkpoint function.

Heinrich MC, Hoatlin ME, Zigler AJ, Silvey KV, Bakke AC, Keeble WW, Zhi Y, Reifsteck CA, Grompe M, Brown MG, Magenis RE, Olson SB, Bagby GC.

Blood. 1998 Jan 1;91(1):275-87.

PMID:
9414295
25.

Definition of the critical interval for Smith-Magenis syndrome.

Elsea SH, Purandare SM, Adell RA, Juyal RC, Davis JG, Finucane B, Magenis RE, Patel PI.

Cytogenet Cell Genet. 1997;79(3-4):276-81. Erratum in: Cytogenet Cell Genet 1998;81(1):67.

PMID:
9605871
26.

Neural tube defects and deletions of 22q11.

Nickel RE, Magenis RE.

Am J Med Genet. 1996 Dec 2;66(1):25-7.

PMID:
8957506
27.

Complex translocation [7;22] identified in an epithelioid hemangioendothelioma.

Boudousquie AC, Lawce HJ, Sherman R, Olson S, Magenis RE, Corless CL.

Cancer Genet Cytogenet. 1996 Dec;92(2):116-21.

PMID:
8976367
28.

Duplication of the PMP22 gene in 17p partial trisomy patients with Charcot-Marie-Tooth type-1 neuropathy.

Roa BB, Greenberg F, Gunaratne P, Sauer CM, Lubinsky MS, Kozma C, Meck JM, Magenis RE, Shaffer LG, Lupski JR.

Hum Genet. 1996 May;97(5):642-9.

PMID:
8655146
29.

The impact of imprinting: Prader-Willi syndrome resulting from chromosome translocation, recombination, and nondisjunction.

Toth-Fejel S, Olson S, Gunter K, Quan F, Wolford J, Popovich BW, Magenis RE.

Am J Hum Genet. 1996 May;58(5):1008-16.

30.

Interstitial deletions of the short arm of chromosome 4 in patients with a similar combination of multiple minor anomalies and mental retardation.

White DM, Pillers DA, Reiss JA, Brown MG, Magenis RE.

Am J Med Genet. 1995 Jul 17;57(4):588-97.

PMID:
7573135
31.

Trisomy 11: an association with stem/progenitor cell immunophenotype.

Slovak ML, Traweek ST, Willman CL, Head DR, Kopecky KJ, Magenis RE, Appelbaum FR, Forman SJ.

Br J Haematol. 1995 Jun;90(2):266-73.

PMID:
7794746
32.

An atypical case of fragile X syndrome caused by a deletion that includes the FMR1 gene.

Quan F, Zonana J, Gunter K, Peterson KL, Magenis RE, Popovich BW.

Am J Hum Genet. 1995 May;56(5):1042-51.

33.

Angelman syndrome: consensus for diagnostic criteria. Angelman Syndrome Foundation.

Williams CA, Angelman H, Clayton-Smith J, Driscoll DJ, Hendrickson JE, Knoll JH, Magenis RE, Schinzel A, Wagstaff J, Whidden EM, et al.

Am J Med Genet. 1995 Mar 27;56(2):237-8. No abstract available.

PMID:
7625452
34.

Prenatal diagnosis of chromosome 15 abnormalities in the Prader-Willi/Angelman syndrome region by traditional and molecular cytogenetics.

Toth-Fejel S, Magenis RE, Leff S, Brown MG, Comegys B, Lawce H, Berry T, Kesner D, Webb MJ, Olson S.

Am J Med Genet. 1995 Feb 13;55(4):444-52.

PMID:
7762584
35.

Velo-cardio-facial syndrome and DiGeorge sequence with meningomyelocele and deletions of the 22q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.

Am J Med Genet. 1994 Oct 1;52(4):445-9.

PMID:
7747757
36.

Mapping of the ACTH, MSH, and neural (MC3 and MC4) melanocortin receptors in the mouse and human.

Magenis RE, Smith L, Nadeau JH, Johnson KR, Mountjoy KG, Cone RD.

Mamm Genome. 1994 Aug;5(8):503-8.

PMID:
7949735
37.

Repression of Fanconi anemia gene (FACC) expression inhibits growth of hematopoietic progenitor cells.

Segal GM, Magenis RE, Brown M, Keeble W, Smith TD, Heinrich MC, Bagby GC Jr.

J Clin Invest. 1994 Aug;94(2):846-52.

38.

Velo-cardio-facial and DiGeorge syndromes with meningomyelocele and deletions of the 22Q11 region.

Nickel RE, Pillers DA, Merkens M, Magenis RE, Driscoll DA, Emanuel BS, Zonana J.

Eur J Pediatr Surg. 1993 Dec;3 Suppl 1:27-8. No abstract available.

PMID:
8130147
39.

The human gene for apurinic/apyrimidinic endonuclease (HAP1): sequence and localization to chromosome 14 band q12.

Zhao B, Grandy DK, Hagerup JM, Magenis RE, Smith L, Chauhan BC, Henner WD.

Nucleic Acids Res. 1992 Aug 11;20(15):4097-8. No abstract available.

40.

Chromosomal localization of three human D5 dopamine receptor genes.

Grandy DK, Allen LJ, Zhang Y, Magenis RE, Civelli O.

Genomics. 1992 Aug;13(4):968-73.

PMID:
1387108
41.

Molecular analysis of the Smith-Magenis syndrome: a possible contiguous-gene syndrome associated with del(17)(p11.2).

Greenberg F, Guzzetta V, Montes de Oca-Luna R, Magenis RE, Smith AC, Richter SF, Kondo I, Dobyns WB, Patel PI, Lupski JR.

Am J Hum Genet. 1991 Dec;49(6):1207-18.

42.

Localization of the fibrillin (FBN) gene to chromosome 15, band q21.1.

Magenis RE, Maslen CL, Smith L, Allen L, Sakai LY.

Genomics. 1991 Oct;11(2):346-51.

PMID:
1769651
43.

Dinucleotide repeat polymorphism at the D9S55 locus.

Sharma V, Brown D, Smith L, Magenis RE, Litt M.

Nucleic Acids Res. 1991 Jul 25;19(14):4023. No abstract available.

44.

Dinucleotide repeat polymorphism at the D14S43 locus.

Sharma V, Smith L, Allen L, Magenis RE, Litt M.

Nucleic Acids Res. 1991 Apr 11;19(7):1722. No abstract available.

45.

Dinucleotide repeat polymorphism at the D21S172 locus.

Sharma V, Allen L, Magenis RE, Litt M.

Nucleic Acids Res. 1991 Mar 11;19(5):1169. No abstract available.

46.

A dinucleotide repeat polymorphism at the D1S116 locus.

Sharma V, Allen L, Magenis RE, Litt M.

Nucleic Acids Res. 1991 Mar 11;19(5):1169. No abstract available.

47.

Intrachromosomal location of the telomeric repeat (TTAGGG)n.

Weber B, Allen L, Magenis RE, Goodfellow PJ, Smith L, Hayden MR.

Mamm Genome. 1991;1(4):211-6.

PMID:
1794050
48.

A low-copy repeat located in subtelomeric regions of 14 different human chromosomal termini.

Weber B, Allen L, Magenis RE, Hayden MR.

Cytogenet Cell Genet. 1991;57(4):179-83.

PMID:
1743071
49.

A human D1 dopamine receptor gene is located on chromosome 5 at q35.1 and identifies an EcoRI RFLP.

Grandy DK, Zhou QY, Allen L, Litt R, Magenis RE, Civelli O, Litt M.

Am J Hum Genet. 1990 Nov;47(5):828-34.

50.

Rearrangement of chromosome 15 in the region q11.2----q12 in an individual with obesity syndrome and her normal mother.

Shohat M, Shohat T, Rimoin DL, Mohandas T, Heckenlively J, Magenis RE, Davidson MB, Korenberg JR.

Am J Med Genet. 1990 Oct;37(2):173-7. Review.

PMID:
2248282

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