SCOPUS 정보 검색 플랫폼

Volumn 100, Issue 1, 2001, Pages 85-86

Prader-Willi syndrome due to maternal uniparental disomy of chromosome 15 in a boy with a balanced 3;21 translocation

(8) Bassett, Lori L a Michaelis, Ron C a Geiger, Mary Holland b Tarleton, Jack b Lynn Moore, C a Knops, Judith F b Carroll, Andrew J a Proud, Virginia K b

a GREENWOOD GENETIC CENTER (United States)

b University of Alabama at Birmingham (United States)

Author keywords

[No Author keywords available]

Indexed keywords

CASE REPORT; CAUCASIAN; CHROMOSOME 15; CHROMOSOME PAIRING; CHROMOSOME TRANSLOCATION 3; DEVELOPMENTAL DISORDER; HUMAN; HUMAN CELL; LETTER; MALE; NONDISJUNCTION; OBESITY; PHENOTYPE; PRADER WILLI SYNDROME; PRESCHOOL CHILD; PRIORITY JOURNAL; UNIPARENTAL DISOMY;

CHROMOSOME ABERRATIONS; CHROMOSOMES, HUMAN, PAIR 15; CHROMOSOMES, HUMAN, PAIR 21; CHROMOSOMES, HUMAN, PAIR 3; FAMILY HEALTH; HUMANS; INFANT; MALE; MICROSATELLITE REPEATS; PRADER-WILLI SYNDROME; TRANSLOCATION, GENETIC;

EID: 0035871925 PISSN: 01487299 EISSN: None Source Type: Journal
DOI: 10.1002/ajmg.1184 Document Type: Letter

Times cited : (1)

References (12)

1
- 0028939902
- Inherited microdeletions in the Angelman and Prader-Willi syndrome define an imprinting centre on human chromosome 15
- (1995) Nat Genet , vol.9 , pp. 395-400
- Buiting, K.¹ Saitoh, S.² Gross, S.³ Dittrich, B.⁴ Schwartz, S.⁵ Nicholls, R.D.⁶ Horsthemke, B.⁷

2
- 0025181455
- Prader-Willi syndrome: Current understanding of cause and diagnosis
- (1990) Am J Med Genet , vol.35 , pp. 319-332
- Butler, M.G.¹

3
- 0032858626
- Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
- (1999) Am J Ment Retard , vol.4 , pp. 67-77
- Dykens, E.M.¹ Cassidy, S.B.² King, B.H.³

4
- 0018939994
- A new genetic concept: Uniparental disomy and its potential effect, isodisomy
- (1980) Am J Med Genet , vol.6 , pp. 137-143
- Engel, E.¹

5
- 0027980355
- In and around SNRPN
- (1994) Nat Genet , vol.8 , pp. 5-7
- Lalande, M.¹

6
- 0032837374
- Towards a molecular understanding of Prader-Willi and Angelman syndromes
- (1999) Hum Mol Genet , vol.8 , pp. 1867-1873
- Mann, M.R.W.¹ Bartolomei, M.S.²

7
- 0026647855
- The frequency of uniparental disomy in Prader-Willi syndrome: Implications for molecular diagnosis
- (1992) New Eng J Med , vol.326 , pp. 1599-1607
- Mascari, M.J.¹ Gottlied, W.² Rogan, P.K.³ Butler, M.G.⁴ Waller, D.A.⁵ Armour, J.A.⁶ Jeffreys, A.J.⁷ Ladda, R.L.⁸ Nichollas, R.D.⁹

8
- 0026353331
- Molecular, cytogenetic, and clinical investigations of Prader-Willi syndrome patients
- (1991) Am J Hum Genet , vol.49 , pp. 1219-1234
- Robinson, W.P.¹ Bottani, A.² Yagang, X.³ Balakrishman, J.⁴ Binkert, E.⁵ Machler, M.⁶ Prader, A.⁷ Schinzel, A.⁸

9
- 0029658702
- Cytogenetic and age-dependent risk factors associated with maternal uniparental disomy 15
- (1996) Prenat Diagnl , vol.16 , pp. 837-844
- Robinson, W.P.¹ Langlois, S.² Gillessen-Kaesbach, G.³ Horsthemke, B.⁴ Michaelis, R.C.⁵ Abelovich, S.⁶ Lerer, I.⁷ Schuffenhauer, S.⁸ Christian, S.⁹ Ledbetter, D.H.¹⁰ Schinzel, A.¹¹

10
- 0033977837
- Intellectual characteristics of Prader-Willi syndrome: Comparison of genetic subtypes
- (2000) J Intellect Disabil Res , vol.44 , pp. 25-30
- Roof, E.¹ Stone, W.² MacLean, W.³ Feurer, I.D.⁴ Thompson, T.⁵ Butler, M.G.⁶

11
- 0028133293
- Deletions of a differentially methylated CpG island at the SNRPN gene define a putative imprinting control region
- (1994) Nat Genet , vol.8 , pp. 52-58
- Sutcliffe, J.S.¹ Nakao, M.² Christian, S.³ Orstavik, K.H.⁴ Tommerup, N.⁵ Ledbetter, D.H.⁶ Beaudet, A.L.⁷

12
- 0023955134
- Editorial: Uniparental disomy: A rare consequence of the high rate of aneuploidy in human gametes
- (1988) Am J Hum Genet , vol.42 , pp. 215-216
- Warburton, D.¹

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