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Items: 1 to 20 of 162

1.

Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26.3 in a boy with Prader-Willi like features and hypotonia.

Ben-Abdallah-Bouhjar I, Hannachi H, Labalme A, Gmidène A, Mougou S, Soyah N, Gribaa M, Sanlaville D, Elghezal H, Saad A.

Eur J Med Genet. 2012 Aug-Sep;55(8-9):461-5. doi: 10.1016/j.ejmg.2012.04.011. Epub 2012 Jun 7.

PMID:
22683462
2.

Array CGH characterization of an unbalanced X-autosome translocation associated with Xq27.2-qter deletion, 11q24.3-qter duplication and Xq22.3-q27.1 duplication in a girl with primary amenorrhea and mental retardation.

Chen CP, Lin SP, Chern SR, Kuo YL, Wu PS, Chen YT, Lee MS, Wang W.

Gene. 2014 Feb 1;535(1):88-92. doi: 10.1016/j.gene.2013.11.026. Epub 2013 Nov 23.

PMID:
24279999
3.

Functional disomy of the Xq28 chromosome region.

Sanlaville D, Prieur M, de Blois MC, Genevieve D, Lapierre JM, Ozilou C, Picq M, Gosset P, Morichon-Delvallez N, Munnich A, Cormier-Daire V, Baujat G, Romana S, Vekemans M, Turleau C.

Eur J Hum Genet. 2005 May;13(5):579-85. Review.

4.

Distal Xq duplication and functional Xq disomy.

Sanlaville D, Schluth-Bolard C, Turleau C.

Orphanet J Rare Dis. 2009 Feb 20;4:4. doi: 10.1186/1750-1172-4-4. Review.

5.

Spread of X-chromosome inactivation into chromosome 15 is associated with Prader-Willi syndrome phenotype in a boy with a t(X;15)(p21.1;q11.2) translocation.

Sakazume S, Ohashi H, Sasaki Y, Harada N, Nakanishi K, Sato H, Emi M, Endoh K, Sohma R, Kido Y, Nagai T, Kubota T.

Hum Genet. 2012 Jan;131(1):121-30. doi: 10.1007/s00439-011-1051-4. Epub 2011 Jul 7.

PMID:
21735174
6.

Cryptic x; autosome translocation in a boy--delineation of the phenotype.

Jezela-Stanek A, Ciara E, Juszczak M, Pelc M, Materna-Kiryluk A, Krajewska-Walasek M.

Pediatr Neurol. 2011 Mar;44(3):221-4. doi: 10.1016/j.pediatrneurol.2010.10.007.

PMID:
21310340
7.

Prader-Willi syndrome resulting from an unbalanced translocation: characterization by array comparative genomic hybridization.

Klein OD, Cotter PD, Albertson DG, Pinkel D, Tidyman WE, Moore MW, Rauen KA.

Clin Genet. 2004 Jun;65(6):477-82.

PMID:
15151506
8.

Inherited duplication of Xq27.2-->qter: phenocopy of infantile Prader-Willi syndrome.

Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD.

Clin Dysmorphol. 2001 Apr;10(2):141-4.

PMID:
11310995
9.

Prader-Willi-like phenotype: investigation of 1p36 deletion in 41 patients with delayed psychomotor development, hypotonia, obesity and/or hyperphagia, learning disabilities and behavioral problems.

D'Angelo CS, Da Paz JA, Kim CA, Bertola DR, Castro CI, Varela MC, Koiffmann CP.

Eur J Med Genet. 2006 Nov-Dec;49(6):451-60. Epub 2006 Mar 10.

PMID:
16564757
10.

Prader-Willi syndrome phenocopy due to duplication of Xq21.1-q21.31, with array CGH of the critical region.

Gabbett MT, Peters GB, Carmichael JM, Darmanian AP, Collins FA.

Clin Genet. 2008 Apr;73(4):353-9. doi: 10.1111/j.1399-0004.2007.00960.x. Epub 2008 Feb 13.

PMID:
18279435
11.

A Y/15 translocation in a 45,X male with Prader-Willi syndrome.

Puvabanditsin S, Garrow E, Razi S, Mohar AG, Tadros JJ, Phattraprayoon N, Patel P.

Genet Couns. 2007;18(4):417-21.

PMID:
18286823
12.

A 47, XXY patient and Xq21.31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization.

Pramyothin P, Pithukpakorn M, Arakaki RF.

Endocrine. 2010 Jun;37(3):379-82. doi: 10.1007/s12020-010-9330-8. Epub 2010 Apr 9.

PMID:
20960156
13.

A case of an atypically large proximal 15q deletion as cause for Prader-Willi syndrome arising from a de novo unbalanced translocation.

Hickey SE, Thrush DL, Walters-Sen L, Reshmi SC, Astbury C, Gastier-Foster JM, Atkin J.

Eur J Med Genet. 2013 Sep;56(9):510-4. doi: 10.1016/j.ejmg.2013.05.010. Epub 2013 Jul 13.

PMID:
23856564
14.

The neonatal presentation of Prader-Willi syndrome revisited.

Miller SP, Riley P, Shevell MI.

J Pediatr. 1999 Feb;134(2):226-8.

PMID:
9931534
15.

An interstitial 15q11-q14 deletion: expanded Prader-Willi syndrome phenotype.

Butler MG, Bittel DC, Kibiryeva N, Cooley LD, Yu S.

Am J Med Genet A. 2010 Feb;152A(2):404-8. doi: 10.1002/ajmg.a.33197. Erratum in: Am J Med Genet A. 2010 May;152A(5):1331-2.

16.

Phenotype-genotype correlation of a patient with a "balanced" translocation 9;15 and cryptic 9q34 duplication and 15q21q25 deletion.

Papadopoulou E, Sismani C, Christodoulou C, Ioannides M, Kalmanti M, Patsalis P.

Am J Med Genet A. 2010 Jun;152A(6):1515-22. doi: 10.1002/ajmg.a.33302.

PMID:
20503328
17.

Subtelomeric 6.7 Mb trisomy 10p and 5.6 Mb monosomy 21q detected by FISH and array-CGH in three related patients.

Szabó GP, Knegt AC, Ujfalusi A, Balogh E, Szabó T, Oláh É.

Am J Med Genet A. 2012 Apr;158A(4):869-76. doi: 10.1002/ajmg.a.35236. Epub 2012 Mar 9.

PMID:
22407767
18.

9 Mb familial duplication in chromosome band Xp22.2-22.13 associated with mental retardation, hypotonia and developmental delay, scoliosis, cardiovascular problems and mild dysmorphic facial features.

Sismani C, Anastasiadou V, Kousoulidou L, Parkel S, Koumbaris G, Zilina O, Bashiardes S, Spanou E, Kurg A, Patsalis PC.

Eur J Med Genet. 2011 Sep-Oct;54(5):e510-5. doi: 10.1016/j.ejmg.2011.05.006. Epub 2011 Jun 17.

PMID:
21684358
19.

Deletion of chromosome 15pter-->q11.2 due to t(Y;15) in a boy with Prader-Willi syndrome.

Qumsiyeh MB, Dalton JD, Gordon PL, Wilroy RS, Tharapel AT.

Am J Med Genet. 1992 Jan 1;42(1):109-11.

PMID:
1308348
20.

'Expanded' Prader-Willi syndrome in a boy with an unusual 15q chromosome deletion.

Pauli RM, Meisner LF, Szmanda RJ.

Am J Dis Child. 1983 Nov;137(11):1087-9.

PMID:
6637912
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