Format
Sort by
Items per page

Send to

Choose Destination

Links from PubMed

Items: 1 to 20 of 99

1.

A 9-year-old male with a duplication of chromosome 3p25.3p26.2: clinical report and gene expression analysis.

Bittel DC, Kibiryeva N, Dasouki M, Knoll JH, Butler MG.

Am J Med Genet A. 2006 Mar 15;140(6):573-9.

2.

The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria.

Gunay-Aygun M, Schwartz S, Heeger S, O'Riordan MA, Cassidy SB.

Pediatrics. 2001 Nov;108(5):E92.

PMID:
11694676
3.

Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific fish.

Engelen JJ, Loots WJ, Albrechts JC, Schrander-Stumpel CT, Dirckx R, Smeets HJ, Hamers AJ, Geraedts JP.

Genet Couns. 1999;10(2):123-32. Review.

PMID:
10422004
4.

Whole genome microarray analysis of gene expression in Prader-Willi syndrome.

Bittel DC, Kibiryeva N, Sell SM, Strong TV, Butler MG.

Am J Med Genet A. 2007 Mar 1;143A(5):430-42.

5.

Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology.

Bittel DC, Butler MG.

Expert Rev Mol Med. 2005 Jul 25;7(14):1-20. Review.

PMID:
16038620
6.

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
7.

De novo interstitial duplication of the 15q11.2-q14 PWS/AS region of maternal origin: Clinical description, array CGH analysis, and review of the literature.

Kitsiou-Tzeli S, Tzetis M, Sofocleous C, Vrettou C, Xaidara A, Giannikou K, Pampanos A, Mavrou A, Kanavakis E.

Am J Med Genet A. 2010 Aug;152A(8):1925-32. doi: 10.1002/ajmg.a.33447.

PMID:
20575009
8.

Genomic analysis of the chromosome 15q11-q13 Prader-Willi syndrome region and characterization of transcripts for GOLGA8E and WHCD1L1 from the proximal breakpoint region.

Jiang YH, Wauki K, Liu Q, Bressler J, Pan Y, Kashork CD, Shaffer LG, Beaudet AL.

BMC Genomics. 2008 Jan 28;9:50. doi: 10.1186/1471-2164-9-50.

10.
11.

Molecular markers for diagnosis of Prader-Willi syndrome in thai patients by fish.

Wiriyaukaradecha S, Patmasiriwat P, Wasant P, Tantiniti P.

Southeast Asian J Trop Med Public Health. 2003 Dec;34(4):881-6.

PMID:
15115105
12.

Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes.

Borelina D, Engel N, Esperante S, Ferreiro V, Ferrer M, Torrado M, Goldschmidt E, Francipane L, Szijan I.

J Biochem Mol Biol. 2004 Sep 30;37(5):522-6.

PMID:
15479613
13.

Highest accuracy of combined consensus clinical criteria and SNRPN gene molecular markers in diagnosis of Prader-Willi syndrome in Thai patients.

Promkan M, Teingtat S, Stheinkijkarnchai A, Wasant P, Patmasiriwat P.

Clin Chem Lab Med. 2007;45(8):972-80.

PMID:
17867985
14.

FISH detection of chromosome 15 deletions in Prader-Willi and Angelman syndromes.

Teshima I, Chadwick D, Chitayat D, Kobayashi J, Ray P, Shuman C, Siegel-Bartelt J, Strasberg P, Weksberg R.

Am J Med Genet. 1996 Mar 29;62(3):217-23. Erratum in: Am J Med Genet 1996 Aug 23;64(3):527.

PMID:
8882776
15.

3p25.3 microdeletion of GABA transporters SLC6A1 and SLC6A11 results in intellectual disability, epilepsy and stereotypic behavior.

Dikow N, Maas B, Karch S, Granzow M, Janssen JW, Jauch A, Hinderhofer K, Sutter C, Schubert-Bast S, Anderlid BM, Dallapiccola B, Van der Aa N, Moog U.

Am J Med Genet A. 2014 Dec;164A(12):3061-8. doi: 10.1002/ajmg.a.36761. Epub 2014 Sep 24.

PMID:
25256099
16.

Analysis of imprinted genes in subjects with Prader-Willi syndrome and chromosome 15 abnormalities.

Muralidhar B, Marney A, Butler MG.

Genet Med. 1999 May-Jun;1(4):141-5.

PMID:
11258349
17.

Molecular genetic diagnostics of Prader-Willi Syndrome: a validation of linkage analysis for the Chinese population.

Li H, Meng S, Chen Z, Li H, Du M, Ma H, Wei H, Duan H, Zheng H, Wenren Q, Song X.

J Genet Genomics. 2007 Oct;34(10):885-91.

PMID:
17945167
18.

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
19.
20.

Clinical features and molecular genetic analysis of a boy with Prader-Willi syndrome caused by an imprinting defect.

Schulze A, Hansen C, Baekgaard P, Blichfeldt S, Petersen MB, Tommerup N, Brøndum-Nielsen K.

Acta Paediatr. 1997 Aug;86(8):906-10.

PMID:
9307178

Supplemental Content

Support Center