-
1
-
-
84864117330
-
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, Gmidene A, et al. (2012). Chromosomal microarray analysis of functional Xq27-qter disomy and deletion 3p26. 3 in a boy with Prader-Willi like features and hypotonia. Eur. J. Med. Genet. 55: 461-465.
-
(2012)
Eur. J. Med. Genet
, vol.55
, pp. 461-465
-
-
Ben-Abdallah-Bouhjar, I.1
Hannachi, H.2
Labalme, A.3
Gmidene, A.4
-
2
-
-
31044455614
-
Prader-Willi syndrome: Clinical genetics, cytogenetics and molecular biology
-
Bittel DC and Butler MG (2005). Prader-Willi syndrome: clinical genetics, cytogenetics and molecular biology. Expert Rev. Mol. Med. 7: 1-20.
-
(2005)
Expert Rev. Mol. Med
, vol.7
, pp. 1-20
-
-
Bittel, D.C.1
Butler, M.G.2
-
3
-
-
16644378531
-
Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes
-
Borelina D, Engel N, Esperante S, Ferreiro V, et al. (2004). Combined cytogenetic and molecular analyses for the diagnosis of Prader-Willi/Angelman syndromes. J. Biochem. Mol. Biol. 37: 522-526.
-
(2004)
J. Biochem. Mol. Biol
, vol.37
, pp. 522-526
-
-
Borelina, D.1
Engel, N.2
Esperante, S.3
Ferreiro, V.4
-
4
-
-
0025181455
-
Prader-Willi syndrome: Current understanding of cause and diagnosis
-
Butler MG (1990). Prader-Willi syndrome: current understanding of cause and diagnosis. Am. J. Med. Genet. 35: 319-332.
-
(1990)
Am. J. Med. Genet
, vol.35
, pp. 319-332
-
-
Butler, M.G.1
-
5
-
-
0030726998
-
Prader-Willi syndrome
-
Cassidy SB (1997). Prader-Willi syndrome. J. Med. Genet. 34: 917-923.
-
(1997)
J. Med. Genet
, vol.34
, pp. 917-923
-
-
Cassidy, S.B.1
-
7
-
-
84874201852
-
Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: Report of novel pathogenic copy number variants
-
D'Angelo CS, Kohl I, Varela MC, de Castro CI, et al. (2013). Obesity with associated developmental delay and/or learning disability in patients exhibiting additional features: report of novel pathogenic copy number variants. Am. J. Med. Genet. A 161A: 479-486.
-
(2013)
Am. J. Med. Genet. A
, vol.161 A
, pp. 479-486
-
-
D'Angelo, C.S.1
Kohl, I.2
Varela, M.C.3
de Castro, C.I.4
-
8
-
-
1842855683
-
A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect
-
De Molfetta GA, Felix TM, Riegel M, Ferraz VE, et al. (2002). A further case of a Prader-Willi syndrome phenotype in a patient with Angelman syndrome molecular defect. Arq. Neuropsiquiatr. 60: 1011-1014.
-
(2002)
Arq. Neuropsiquiatr
, vol.60
, pp. 1011-1014
-
-
De Molfetta, G.A.1
Felix, T.M.2
Riegel, M.3
Ferraz, V.E.4
-
9
-
-
84896543472
-
Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes
-
Doi: 10. 1038/ejhg. 2013. 189
-
Doco-Fenzy M, Leroy C, Schneider A, Petit F, et al. (2013). Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes. Eur. J. Hum. Genet. Doi: 10. 1038/ejhg. 2013. 189.
-
(2013)
Eur. J. Hum. Genet
-
-
Doco-Fenzy, M.1
Leroy, C.2
Schneider, A.3
Petit, F.4
-
10
-
-
0041822111
-
De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome
-
Florez L, Anderson M and Lacassie Y (2003). De novo paracentric inversion (X)(q26q28) with features mimicking Prader-Willi syndrome. Am. J. Med. Genet. A 121A: 60-64.
-
(2003)
Am. J. Med. Genet. A
, vol.121 A
, pp. 60-64
-
-
Florez, L.1
Anderson, M.2
Lacassie, Y.3
-
11
-
-
62349132896
-
Síndrome de Prader-Willi em lactentes hipotônicos
-
Fridman C, Kok F and Koiffmann CP (2000). Síndrome de Prader-Willi em lactentes hipotônicos. J. Pediatr. 76: 246-250.
-
(2000)
J. Pediatr
, vol.76
, pp. 246-250
-
-
Fridman, C.1
Kok, F.2
Koiffmann, C.P.3
-
12
-
-
40749099871
-
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, et al. (2008). Prader-Willi syndrome phenocopy due to duplication of Xq21. 1-q21. 31, with array CGH of the critical region. Clin. Genet. 73: 353-359.
-
(2008)
Clin. Genet
, vol.73
, pp. 353-359
-
-
Gabbett, M.T.1
Peters, G.B.2
Carmichael, J.M.3
Darmanian, A.P.4
-
14
-
-
0028900374
-
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome
-
Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, et al. (1995). DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome. J. Med. Genet. 32: 88-92.
-
(1995)
J. Med. Genet
, vol.32
, pp. 88-92
-
-
Gillessen-Kaesbach, G.1
Gross, S.2
Kaya-Westerloh, S.3
Passarge, E.4
-
15
-
-
1042267409
-
Prader-Willi syndrome: Advances in genetics, pathophysiology and treatment
-
Goldstone AP (2004). Prader-Willi syndrome: advances in genetics, pathophysiology and treatment. Trends Endocrinol. Metab. 15: 12-20.
-
(2004)
Trends Endocrinol. Metab
, vol.15
, pp. 12-20
-
-
Goldstone, A.P.1
-
16
-
-
0034016043
-
Profound obesity associated with a balanced translocation that disrupts the SIM1 gene
-
Holder JL Jr, Butte NF and Zinn AR (2000). Profound obesity associated with a balanced translocation that disrupts the SIM1 gene. Hum. Mol. Genet. 9: 101-108.
-
(2000)
Hum. Mol. Genet
, vol.9
, pp. 101-108
-
-
Holder Jr., J.L.1
Butte, N.F.2
Zinn, A.R.3
-
17
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
Holm VA, Cassidy SB, Butler MG, Hanchett JM, et al. (1993). Prader-Willi syndrome: consensus diagnostic criteria. Pediatrics 91: 398-402.
-
(1993)
Pediatrics
, vol.91
, pp. 398-402
-
-
Holm, V.A.1
Cassidy, S.B.2
Butler, M.G.3
Hanchett, J.M.4
-
18
-
-
73949156905
-
Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype
-
Hosoki K, Kagami M, Tanaka T, Kubota M, et al. (2009). Maternal uniparental disomy 14 syndrome demonstrates Prader-Willi syndrome-like phenotype. J. Pediatr. 155: 900-903.
-
(2009)
J. Pediatr
, vol.155
, pp. 900-903
-
-
Hosoki, K.1
Kagami, M.2
Tanaka, T.3
Kubota, M.4
-
19
-
-
84888023304
-
Endocrine phenotype of 6q16. 1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features
-
Izumi K, Housam R, Kapadia C, Stallings VA, et al. (2013). Endocrine phenotype of 6q16. 1-q21 deletion involving SIM1 and Prader-Willi syndrome-like features. Am. J. Med. Genet. A 161A: 3137-3143.
-
(2013)
Am. J. Med. Genet. A
, vol.161 A
, pp. 3137-3143
-
-
Izumi, K.1
Housam, R.2
Kapadia, C.3
Stallings, V.A.4
-
20
-
-
0034122180
-
Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence
-
Lukusa T and Fryns JP (2000). Pure distal monosomy 10q26 in a patient displaying clinical features of Prader-Willi syndrome during infancy and distinct behavioural phenotype in adolescence. Genet. Couns. 11: 119-126.
-
(2000)
Genet. Couns
, vol.11
, pp. 119-126
-
-
Lukusa, T.1
Fryns, J.P.2
-
21
-
-
35948956334
-
Genotype/phenotype correlations in two patients with 12q subtelomere deletions
-
Niyazov DM, Nawaz Z, Justice AN, Toriello HV, et al. (2007). Genotype/phenotype correlations in two patients with 12q subtelomere deletions. Am. J. Med. Genet. A 143A: 2700-2705.
-
(2007)
Am. J. Med. Genet. A
, vol.143 A
, pp. 2700-2705
-
-
Niyazov, D.M.1
Nawaz, Z.2
Justice, A.N.3
Toriello, H.V.4
-
22
-
-
34247233134
-
The Prader-Willi phenotype of fragile X syndrome
-
Nowicki ST, Tassone F, Ono MY, Ferranti J, et al. (2007). The Prader-Willi phenotype of fragile X syndrome. J. Dev. Behav. Pediatr. 28: 133-138.
-
(2007)
J. Dev. Behav. Pediatr
, vol.28
, pp. 133-138
-
-
Nowicki, S.T.1
Tassone, F.2
Ono, M.Y.3
Ferranti, J.4
-
23
-
-
77952098959
-
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 and Arakaki RF (2010). A 47, XXY patient and Xq21. 31 duplication with features of Prader-Willi syndrome: results of array-based comparative genomic hybridization. Endocrine 37: 379-382.
-
(2010)
Endocrine
, vol.37
, pp. 379-382
-
-
Pramyothin, P.1
Pithukpakorn, M.2
Arakaki, R.F.3
-
24
-
-
0037438443
-
Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype
-
Stalker HJ, Keller KL, Gray BA and Zori RT (2003). Concurrence of fragile X syndrome and 47, XYY in an individual with a Prader-Willi-like phenotype. Am. J. Med. Genet. A 116A: 176-178.
-
(2003)
Am. J. Med. Genet. A
, vol.116 A
, pp. 176-178
-
-
Stalker, H.J.1
Keller, K.L.2
Gray, B.A.3
Zori, R.T.4
-
25
-
-
0033044126
-
Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patients
-
State MW, Dykens EM, Rosner B, Martin A, et al. (1999). Obsessive-compulsive symptoms in Prader-Willi and "Prader-Willi-Like" patients. J. Am. Acad. Child Adolesc. Psychiatry 38: 329-334.
-
(1999)
J. Am. Acad. Child Adolesc. Psychiatry
, vol.38
, pp. 329-334
-
-
State, M.W.1
Dykens, E.M.2
Rosner, B.3
Martin, A.4
-
26
-
-
77949416159
-
Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression
-
Tolson KP, Gemelli T, Gautron L, Elmquist JK, et al. (2010). Postnatal Sim1 deficiency causes hyperphagic obesity and reduced Mc4r and oxytocin expression. J. Neurosci. 30: 3803-3812.
-
(2010)
J. Neurosci
, vol.30
, pp. 3803-3812
-
-
Tolson, K.P.1
Gemelli, T.2
Gautron, L.3
Elmquist, J.K.4
-
27
-
-
77955839380
-
1p36 deletion syndrome associated with Prader-Willi-like phenotype
-
Tsuyusaki Y, Yoshihashi H, Furuya N, Adachi M, et al. (2010). 1p36 deletion syndrome associated with Prader-Willi-like phenotype. Pediatr. Int. 52: 547-550.
-
(2010)
Pediatr. Int
, vol.52
, pp. 547-550
-
-
Tsuyusaki, Y.1
Yoshihashi, H.2
Furuya, N.3
Adachi, M.4
-
28
-
-
0036492093
-
Diagnosis of patients with Prader-Willi and Angelman Syndromes: The importance of an overall investigation
-
Varela MC, Fridman C and Koiffmann CP (2002). Diagnosis of patients with Prader-Willi and Angelman Syndromes: the importance of an overall investigation. Genet. Mol. Biol. 25: 7-12.
-
(2002)
Genet. Mol. Biol
, vol.25
, pp. 7-12
-
-
Varela, M.C.1
Fridman, C.2
Koiffmann, C.P.3
|