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Items: 1 to 20 of 159

1.

1p36 deletion syndrome associated with Prader-Willi-like phenotype.

Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, Osaka H, Yamamoto K, Kurosawa K.

Pediatr Int. 2010 Aug;52(4):547-50. doi: 10.1111/j.1442-200X.2010.03090.x.

PMID:
20113418
2.

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
3.

Epilepsy and neurological findings in 11 individuals with 1p36 deletion syndrome.

Kurosawa K, Kawame H, Okamoto N, Ochiai Y, Akatsuka A, Kobayashi M, Shimohira M, Mizuno S, Wada K, Fukushima Y, Kawawaki H, Yamamoto T, Masuno M, Imaizumi K, Kuroki Y.

Brain Dev. 2005 Aug;27(5):378-82. Epub 2005 Apr 13.

PMID:
16023556
4.

Type II diabetes and impaired glucose tolerance due to severe hyperinsulinism in patients with 1p36 deletion syndrome and a Prader-Willi-like phenotype.

Stagi S, Lapi E, Pantaleo M, Chiarelli F, Seminara S, de Martino M.

BMC Med Genet. 2014 Jan 30;15:16. doi: 10.1186/1471-2350-15-16.

5.

Are Angelman and Prader-Willi syndromes more similar than we thought? Food-related behavior problems in Angelman, Cornelia de Lange, fragile X, Prader-Willi and 1p36 deletion syndromes.

Welham A, Lau J, Moss J, Cullen J, Higgs S, Warren G, Wilde L, Marr A, Cook F, Oliver C.

Am J Med Genet A. 2015 Mar;167A(3):572-8. doi: 10.1002/ajmg.a.36923.

PMID:
25691410
6.

Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndromes using YAC clone 273A2 (D15S10).

Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Köchl S, Utermann B, Duba HC, Utermann G.

Hum Genet. 1996 Jun;97(6):784-93.

PMID:
8641697
7.

Growth patterns of patients with 1p36 deletion syndrome.

Sangu N, Shimojima K, Shimada S, Ando T, Yamamoto T.

Congenit Anom (Kyoto). 2014 May;54(2):82-6. doi: 10.1111/cga.12029.

PMID:
24750553
8.

Monosomy 1p36 - a multifaceted and still enigmatic syndrome: four clinically diverse cases with shared white matter abnormalities.

Õiglane-Shlik E, Puusepp S, Talvik I, Vaher U, Rein R, Tammur P, Reimand T, Teek R, Žilina O, Tomberg T, Õunap K.

Eur J Paediatr Neurol. 2014 May;18(3):338-46. doi: 10.1016/j.ejpn.2014.01.008. Epub 2014 Jan 25.

PMID:
24529875
9.

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.

Further delineation of deletion 1p36 syndrome in 60 patients: a recognizable phenotype and common cause of developmental delay and mental retardation.

Battaglia A, Hoyme HE, Dallapiccola B, Zackai E, Hudgins L, McDonald-McGinn D, Bahi-Buisson N, Romano C, Williams CA, Brailey LL, Zuberi SM, Carey JC.

Pediatrics. 2008 Feb;121(2):404-10. doi: 10.1542/peds.2007-0929. Erratum in: Pediatrics. 2008 May;121(5):1081. Braley, Lisa L [corrected to Brailey, Lisa L].

PMID:
18245432
11.

Severe lysosomal storage disease of liver in del(1)(p36): a new presentation.

Haimi M, Iancu TC, Shaffer LG, Lerner A.

Eur J Med Genet. 2011 May-Jun;54(3):209-13. doi: 10.1016/j.ejmg.2010.11.012. Epub 2010 Dec 9.

PMID:
21145995
12.

Chromosome 1p36 deletions: the clinical phenotype and molecular characterization of a common newly delineated syndrome.

Shapira SK, McCaskill C, Northrup H, Spikes AS, Elder FF, Sutton VR, Korenberg JR, Greenberg F, Shaffer LG.

Am J Hum Genet. 1997 Sep;61(3):642-50.

13.

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
14.

Proximal interstitial 1p36 deletion syndrome: the most proximal 3.5-Mb microdeletion identified on a dysmorphic and mentally retarded patient with inv(3)(p14.1q26.2).

Shimojima K, Páez MT, Kurosawa K, Yamamoto T.

Brain Dev. 2009 Sep;31(8):629-33. doi: 10.1016/j.braindev.2008.08.013. Epub 2008 Oct 5.

PMID:
18835671
15.

Interstitial 6q deletion and Prader-Willi-like phenotype.

Stein CK, Stred SE, Thomson LL, Smith FC, Hoo JJ.

Clin Genet. 1996 Jun;49(6):306-10.

PMID:
8884080
16.

Lack of evidence for monosomy 1p36 in patients with Prader-Willi-like phenotype.

Rodríguez VR, Mazzucato LF, Pina-Neto JM.

Braz J Med Biol Res. 2008 Aug;41(8):681-3.

17.

A 5-year-old white girl with Prader-Willi syndrome and a submicroscopic deletion of chromosome 15q11q13.

Butler MG, Christian SL, Kubota T, Ledbetter DH.

Am J Med Genet. 1996 Oct 16;65(2):137-41.

PMID:
8911606
18.

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.

19.

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.

Varela MC, Simões-Sato AY, Kim CA, Bertola DR, De Castro CI, Koiffmann CP.

Eur J Med Genet. 2006 Jul-Aug;49(4):298-305. Epub 2006 Jan 4.

PMID:
16829351
20.

Molecular diagnosis of Prader-Willi syndrome.

Pangkanon S.

J Med Assoc Thai. 2003 Aug;86 Suppl 3:S510-6.

PMID:
14700141

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