-
1
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cause and diagnosis
-
BUTTLER MG. Prader-Willi syndrome: Current understanding of cause and diagnosis. Am J Med Genet 1990; 35: 319-32.
-
(1990)
Am J Med Genet
, vol.35
, pp. 319-332
-
-
Buttler, M.G.1
-
2
-
-
0026752006
-
Differentiated recurrence risk estimations in the Prader-Willi síndrome
-
Differentiated recurrence risk estimations in the Prader-Willi síndrome. Clin Genet 1992; 41: 303-8.
-
(1992)
Clin Genet
, vol.41
, pp. 303-308
-
-
-
3
-
-
0028939902
-
Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15
-
BUTTING K, SAITOH S, GROSS S, DITTRICH B, SCHWARTZ S, NICHOLLS RD ET AL. Inherited microdeletions in the Angelman and Prader-Willi syndromes define an imprinting center on human chromosome 15. Nat Genet 1994; 9: 395-400.
-
(1994)
Nat Genet
, vol.9
, pp. 395-400
-
-
Butting, K.1
Saitoh, S.2
Gross, S.3
Dittrich, B.4
Schwartz, S.5
Nicholls, R.D.6
-
4
-
-
0031114837
-
Genetic imprinting: Potential function and mechanisms revealed by the Prader Willi and Angelman syndromes
-
GLENN CC, DRISCOLL DJ, YANG TP, NICHOLLS RD. Genetic imprinting: Potential function and mechanisms revealed by the Prader Willi and Angelman syndromes. Mol Hum Reprod 1997; 3: 321-32.
-
(1997)
Mol Hum Reprod
, vol.3
, pp. 321-332
-
-
Glenn, C.C.1
Driscoll, D.J.2
Yang, T.P.3
Nicholls, R.D.4
-
5
-
-
0024440608
-
Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome
-
NICHOLLS RD, KNOLL JHM, BUTTLER MG, KARAM S, LALANDE M. Genetic imprinting suggested by maternal heterodisomy in non-deletion Prader-Willi syndrome. Nature 1989; 342: 281-5.
-
(1989)
Nature
, vol.342
, pp. 281-285
-
-
Nicholls, R.D.1
Knoll, J.H.M.2
Buttler, M.G.3
Karam, S.4
Lalande, M.5
-
6
-
-
0027474137
-
Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: A review
-
NICHOLLS RD. Genomic imprinting and uniparental disomy in Angelman and Prader-Willi syndrome: A review. Am J Med Genet 1993; 46: 16-25.
-
(1993)
Am J Med Genet
, vol.46
, pp. 16-25
-
-
Nicholls, R.D.1
-
7
-
-
0042053458
-
Prader-Willi syndrome
-
Cassidy S, Allanson J Eds. John Wiley & sons, Inc., Publication, New York
-
CASSIDY S. Prader-Willi syndrome. In: Management of Genetic Syndromes. Cassidy S, Allanson J Eds. John Wiley & sons, Inc., Publication, New York. 2001; 301-22.
-
(2001)
Management of Genetic Syndromes
, pp. 301-322
-
-
Cassidy, S.1
-
8
-
-
0027026716
-
Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region
-
OZCELIK T, LEFF S, ROBINSON W, DONLON T, LALANDE H, SANJINES ET AL. Small nuclear ribonucleoprotein polypeptide N (SNRPN), an expressed gene in the Prader-Willi syndrome critical region. Nat Genet 1992; 2: 265-9.
-
(1992)
Nat Genet
, vol.2
, pp. 265-269
-
-
Ozcelik, T.1
Leff, S.2
Robinson, W.3
Donlon, T.4
Lalande, H.5
Sanjines6
-
9
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
HOLM VA, CASSIDY SB, BUTTLER MG, HANCHETT JM, GREENSWAG LR, WHITMAN BY ET AL. Prader-Willi syndrome: Consensus diagnostic criteria. Pediatrics 1993; 91: 398-402.
-
(1993)
Pediatrics
, vol.91
, pp. 398-402
-
-
Holm, V.A.1
Cassidy, S.B.2
Buttler, M.G.3
Hanchett, J.M.4
Greenswag, L.R.5
Whitman, B.Y.6
-
10
-
-
0035515362
-
The changing purpose of Prader Willi Syndrome clinical diagnostic criteria and proposed revised criteria
-
GUNAY-AGUN M, SCHWARTZ S, HEEGER S, O'RIORDAN MA, CASSIDY S. The changing purpose of Prader Willi Syndrome clinical diagnostic criteria and proposed revised criteria. Pediatrics 2001; 108 (5):E92.
-
(2001)
Pediatrics
, vol.108
, Issue.5
-
-
Gunay-Agun, M.1
Schwartz, S.2
Heeger, S.3
O'Riordan, M.A.4
Cassidy, S.5
-
11
-
-
0036889099
-
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
-
ALLIENDE MA, CUROTTO B, SANTA MARÍA L, ARACENA M, CORTÉS F. Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation. Am J Med Genet 2002; 113: 307-8.
-
(2002)
Am J Med Genet
, vol.113
, pp. 307-308
-
-
Alliende, M.A.1
Curotto, B.2
Santa María, L.3
Aracena, M.4
Cortés, F.5
-
12
-
-
0035318985
-
Diagnóstico Molecular de los Síndromes de Prader Willi y Angelman: Test de metilación, citogenética y FISH
-
SANTA MARÍA L, CUROTTO B, CORTÉS F, ROJAS C, ALLIENDE MA. Diagnóstico Molecular de los Síndromes de Prader Willi y Angelman: test de metilación, citogenética y FISH. Rev Méd Chile 2001; 129: 367-74.
-
(2001)
Rev Méd Chile
, vol.129
, pp. 367-374
-
-
Santa María, L.1
Curotto, B.2
Cortés, F.3
Rojas, C.4
Alliende, M.A.5
-
14
-
-
0032458026
-
Prader-Willi syndrome and psychotic symptoms 2. A preliminary study of prevalence using the Psychopathology Assessment Schedule for Adults with Developmental Disability checklist
-
Prader-Willi syndrome and psychotic symptoms 2. A preliminary study of prevalence using the Psychopathology Assessment Schedule for Adults with Developmental Disability checklist: J Intellect Disabil Res 1998; 42: 451-4.
-
(1998)
J Intellect Disabil Res
, vol.42
, pp. 451-454
-
-
-
15
-
-
0032858626
-
Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy
-
DYKENS EM, LECKMAN JF, CASSIDY SB. Maladaptive behavior differences in Prader-Willi syndrome due to paternal deletion versus maternal uniparental disomy. Am J Ment Retard 1999; 104: 67-77.
-
(1999)
Am J Ment Retard
, vol.104
, pp. 67-77
-
-
Dykens, E.M.1
Leckman, J.F.2
Cassidy, S.B.3
-
17
-
-
0242335646
-
Prader-Willi syndrome: The psychopathological phenotype in uniparental disomy
-
Oct
-
VERHOEVEN WM, TUINIER S, CURFS LM. Prader-Willi syndrome: the psychopathological phenotype in uniparental disomy. J Med Genet 2003 Oct;40(10):e112.
-
(2003)
J Med Genet
, vol.40
, Issue.10
-
-
Verhoeven, W.M.1
Tuinier, S.2
Curfs, L.M.3
-
18
-
-
0027473988
-
Multiplex PCR of three dinucleotide repeats in the Prader Willi/Angelman critical region (15q11-q13): Molecular diagnosis and mechanism of uniparental disomy
-
MUTIRANGURA A, GREENBERG F, BUTLER MG, MALCOLM S, NICHOLLS RD, CHAKRAVARTI A ET AL. Multiplex PCR of three dinucleotide repeats in the Prader Willi/Angelman critical region (15q11-q13): molecular diagnosis and mechanism of uniparental disomy. Hum Mol Genet 1993; 2: 143-51.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 143-151
-
-
Mutirangura, A.1
Greenberg, F.2
Butler, M.G.3
Malcolm, S.4
Nicholls, R.D.5
Chakravarti, A.6
|