-
1
-
-
0036889099
-
Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation
-
Alliende A, Curotto B, Santa Maria L, Cortés F, Aracena M. 2002. Prader-Willi syndrome due to 15q11-q13 deletion in a girl with an inherited (13;14) Robertsonian translocation. Am J Med Genet 113:307-308.
-
(2002)
Am J Med Genet
, vol.113
, pp. 307-308
-
-
Alliende, A.1
Curotto, B.2
Santa Maria, L.3
Cortés, F.4
Aracena, M.5
-
2
-
-
0029867499
-
Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG Joint Test and Technology Transfer Committee
-
American Society of Human Genetics/American College of Medical Genetics: Test and Technology Transfer Committee. 1996. Diagnostic testing for Prader-Willi and Angelman syndromes: Report of the ASHG/ACMG Joint Test and Technology Transfer Committee. Am J Hum Genet 58:1085-1088.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1085-1088
-
-
-
3
-
-
0033531969
-
Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype
-
Berends MJW, Hordijk R, Scheffer H, Oosterwijk JC, Halley DJJ, Sorgedrager N. 1999. Two cases of maternal uniparental disomy 14 with a phenotype overlapping with the Prader-Willi phenotype. Am J Med Genet 84:76-79.
-
(1999)
Am J Med Genet
, vol.84
, pp. 76-79
-
-
Berends, M.J.W.1
Hordijk, R.2
Scheffer, H.3
Oosterwijk, J.C.4
Halley, D.J.J.5
Sorgedrager, N.6
-
5
-
-
0031551477
-
Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15-A coincidence?
-
Butler MG, Hedges LK, Rogan PK, Seip JR, Cassidy SB, Moeschler JB. 1997. Klinefelter and trisomy X syndromes in patients with Prader-Willi syndrome and uniparental maternal disomy of chromosome 15-A coincidence? Am J Med Genet 72:111-114.
-
(1997)
Am J Med Genet
, vol.72
, pp. 111-114
-
-
Butler, M.G.1
Hedges, L.K.2
Rogan, P.K.3
Seip, J.R.4
Cassidy, S.B.5
Moeschler, J.B.6
-
6
-
-
0042053458
-
Prader-Willi syndrome
-
Cassidy SB, Allanson JE, editors. New York: Wiley-Liss
-
Cassidy SB. 2001. Prader-Willi Syndrome. In: Cassidy SB, Allanson JE, editors. Management of genetic disorders. New York: Wiley-Liss. p 301-322.
-
(2001)
Management of Genetic Disorders
, pp. 301-322
-
-
Cassidy, S.B.1
-
7
-
-
0030761243
-
Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome
-
Conroy JM, Grebe TA, Becker LA, Tsuchiya K, Nicholls RD, Buiting K, Horsthemke B, Cassidy SB, Schwartz S. 1997. Balanced translocation 46,XY,t(2;15)(q37.2;q11.2) associated with atypical Prader-Willi syndrome. Am J Hum Genet 61:388-394.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 388-394
-
-
Conroy, J.M.1
Grebe, T.A.2
Becker, L.A.3
Tsuchiya, K.4
Nicholls, R.D.5
Buiting, K.6
Horsthemke, B.7
Cassidy, S.B.8
Schwartz, S.9
-
8
-
-
0021193641
-
Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion
-
De France HF, Beemer FA, Ippel PF. 1984. Duplication in chromosome 15q in a boy with the Prader-Willi syndrome; further cytogenetic confusion. Clin Genet 26:379-382.
-
(1984)
Clin Genet
, vol.26
, pp. 379-382
-
-
De France, H.F.1
Beemer, F.A.2
Ippel, P.F.3
-
9
-
-
0027946237
-
The Prader-Willi-like phenotype in Fragile X patients: A designation facilitating clinical (and molecular) differential diagnosis
-
De Vries BBA, Niermeijer MF. 1994. The Prader-Willi-like phenotype in Fragile X patients: A designation facilitating clinical (and molecular) differential diagnosis. J Med Genet (L) 31:820.
-
(1994)
J Med Genet (L)
, vol.31
, pp. 820
-
-
De Vries, B.B.A.1
Niermeijer, M.F.2
-
10
-
-
0027282296
-
Clinical and molecular studies in fragile X patients with Prader-Willi-like phenotype
-
De Vries BBA, Fryns J-P, Butler MG, Canziani F, Wesby-van-Swaay E, van Hemel JO, Oostra BA, Halley DJJ, Niermeijer MF. 1993. Clinical and molecular studies in fragile X patients with Prader-Willi-like phenotype. J Med Genet 30:761-766.
-
(1993)
J Med Genet
, vol.30
, pp. 761-766
-
-
De Vries, B.B.A.1
Fryns, J.-P.2
Butler, M.G.3
Canziani, F.4
Wesby-van-Swaay, E.5
Van Hemel, J.O.6
Oostra, B.A.7
Halley, D.J.J.8
Niermeijer, M.F.9
-
11
-
-
0032782548
-
Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific FISH
-
Engelen JJM, Loots WJG, Albrechts JCM, Schrander-Stumpel CTRM, Dirckx R, Smeets HJM, Hamers AJH, Geraedts JPM. 1999. Duplication within chromosome region 15q11-q13 in a patient with similarities to Prader-Willi syndrome confirmed by region-specific and band-specific FISH. Genet Couns 10:123-132.
-
(1999)
Genet Couns
, vol.10
, pp. 123-132
-
-
Engelen, J.J.M.1
Loots, W.J.G.2
Albrechts, J.C.M.3
Schrander-Stumpel, C.T.R.M.4
Dirckx, R.5
Smeets, H.J.M.6
Hamers, A.J.H.7
Geraedts, J.P.M.8
-
12
-
-
0029874866
-
Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndrome using IAC clone 273A2 (D15S10)
-
Erdel M, Schuffenhauer S, Buchholz B, Barth-Witte U, Kochl S, Utermann B, Duba HC, Utermann G. 1996. Routine screening for microdeletions by FISH in 77 patients suspected of having Prader-Willi or Angelman syndrome using IAC clone 273A2 (D15S10). Med Genet 97:784-793.
-
(1996)
Med Genet
, vol.97
, pp. 784-793
-
-
Erdel, M.1
Schuffenhauer, S.2
Buchholz, B.3
Barth-Witte, U.4
Kochl, S.5
Utermann, B.6
Duba, H.C.7
Utermann, G.8
-
13
-
-
0030958923
-
Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia
-
Eugster EA, Berry SA, Hirsch B. 1997. Mosaicism for deletion 1p36.33 in a patient with obesity and hyperphagia. Am J Med Genet 70:409-412.
-
(1997)
Am J Med Genet
, vol.70
, pp. 409-412
-
-
Eugster, E.A.1
Berry, S.A.2
Hirsch, B.3
-
14
-
-
0020520491
-
Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment
-
Fraccaro M, Zuffardi O, Bühler E, Schinzel A, Simoni G, Witkowski R, Bonifaci E, Caufin D, Cignacco G, Delendi N, Gargantini L, Losanowa T, Marca L, Ullrich E, Vigi V. 1983. Deficiency, transposition, and duplication of one 15q region may be alternatively associated with Prader-Willi (or a similar) syndrome. Analysis of seven cases after varying ascertainment. Hum Genet 64:388-394.
-
(1983)
Hum Genet
, vol.64
, pp. 388-394
-
-
Fraccaro, M.1
Zuffardi, O.2
Bühler, E.3
Schinzel, A.4
Simoni, G.5
Witkowski, R.6
Bonifaci, E.7
Caufin, D.8
Cignacco, G.9
Delendi, N.10
Gargantini, L.11
Losanowa, T.12
Marca, L.13
Ullrich, E.14
Vigi, V.15
-
16
-
-
0028345788
-
Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype
-
Gillessen-Kaesbach G, Horsthemke B. 1994. Clinical and molecular studies in fragile X patients with a Prader-Willi-like phenotype. J Med Genet 31:260-261.
-
(1994)
J Med Genet
, vol.31
, pp. 260-261
-
-
Gillessen-Kaesbach, G.1
Horsthemke, B.2
-
17
-
-
0028900374
-
DNA methylation based testing of 450 patients suspected of having Prader-Willi syndrome
-
Gillessen-Kaesbach G, Gross S, Kaya-Westerloh S, Passarge E, Horsthemke B. 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
Horsthemke, B.5
-
18
-
-
0032831340
-
A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect
-
Gillessen-Kaesbach G, Demuth S, Thiele H, Theile U, Lich C, Horsthemke B. 1999. A previously unrecognised phenotype characterised by obesity, muscular hypotonia, and ability to speak in patients with Angelman syndrome caused by an imprinting defect. Eur J Hum Genet 7:638-644.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 638-644
-
-
Gillessen-Kaesbach, G.1
Demuth, S.2
Thiele, H.3
Theile, U.4
Lich, C.5
Horsthemke, B.6
-
20
-
-
0031772358
-
Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families
-
Goodman BK, Shaffer LG, Rutberg J, Leppert M, Harum K, Gagos S, Ray JH, Bialer MG, Zhou X, Pletcher BA, Shapira SK, Geraghty MT. 1998. Inherited duplication Xq27-qter at Xp22.3 in severely affected males: Molecular cytogenetic evaluation and clinical description in three unrelated families. Am J Med Genet 80:377-384.
-
(1998)
Am J Med Genet
, vol.80
, pp. 377-384
-
-
Goodman, B.K.1
Shaffer, L.G.2
Rutberg, J.3
Leppert, M.4
Harum, K.5
Gagos, S.6
Ray, J.H.7
Bialer, M.G.8
Zhou, X.9
Pletcher, B.A.10
Shapira, S.K.11
Geraghty, M.T.12
-
21
-
-
0035515362
-
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. 2001. The changing purpose of Prader-Willi syndrome clinical diagnostic criteria and proposed revised criteria. Pediatr 108:p-e92.
-
(2001)
Pediatr
, vol.108
-
-
Gunay-Aygun, M.1
Schwartz, S.2
Heeger, S.3
O'Riordan, M.A.4
Cassidy, S.B.5
-
22
-
-
0037101849
-
Infantile hypotonia as a presentation of Rett syndrome
-
Heilstedt HA, Shahbazian MD, Lee B. 2002. Infantile hypotonia as a presentation of Rett syndrome. Am J Med Genet 111:238-242.
-
(2002)
Am J Med Genet
, vol.111
, pp. 238-242
-
-
Heilstedt, H.A.1
Shahbazian, M.D.2
Lee, B.3
-
23
-
-
0023488562
-
Apparent Prader-Willi phenotype in a woman with ring chromosome 9
-
Hess RO, Meisner LF. 1987. Apparent Prader-Willi phenotype in a woman with ring chromosome 9. Am J Med Genet (Suppl) 3:133-138.
-
(1987)
Am J Med Genet
, vol.3
, Issue.SUPPL.
, pp. 133-138
-
-
Hess, R.O.1
Meisner, L.F.2
-
24
-
-
0027476242
-
Prader-Willi syndrome: Consensus diagnostic criteria
-
Holm VA, Cassidy SB, Butler MG, Hanchett JM, Greenswag LR, Whitman BY, Greenberg F. 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
Greenswag, L.R.5
Whitman, B.Y.6
Greenberg, F.7
-
26
-
-
0032850551
-
Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype
-
Hordijk R, Wierenga H, Scheffer H, Leegte B, Hofstra RMW, Stolte-Dijkstra I. 1999. Maternal uniparental disomy for chromosome 14 in a boy with a normal karyotype. J Med Genet 36:782-785.
-
(1999)
J Med Genet
, vol.36
, pp. 782-785
-
-
Hordijk, R.1
Wierenga, H.2
Scheffer, H.3
Leegte, B.4
Hofstra, R.M.W.5
Stolte-Dijkstra, I.6
-
27
-
-
0023230003
-
Prader-Willi syndrome in two siblings: One with normal karyotype, one with a terminal deletion of distal Xq
-
Ishikawa T, Kanayama M, Wada Y. 1987. Prader-Willi syndrome in two siblings: One with normal karyotype, one with a terminal deletion of distal Xq. Clin Genet 32:295-299.
-
(1987)
Clin Genet
, vol.32
, pp. 295-299
-
-
Ishikawa, T.1
Kanayama, M.2
Wada, Y.3
-
28
-
-
0036557829
-
De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity, and gynaecomastia
-
Kleefstra T, Yntema HG, Oudakker AR, Romein T, Sistermans E, Nillessen W, van Bokhoven H, de Vries BBA, Hamel BCJ. 2002. De novo MECP2 frameshift mutation in a boy with moderate mental retardation, obesity, and gynaecomastia. Clin Genet 61:359-362.
-
(2002)
Clin Genet
, vol.61
, pp. 359-362
-
-
Kleefstra, T.1
Yntema, H.G.2
Oudakker, A.R.3
Romein, T.4
Sistermans, E.5
Nillessen, W.6
Van Bokhoven, H.7
De Vries, B.B.A.8
Hamel, B.C.J.9
-
29
-
-
0019018069
-
Chromosomal abnormality in Prader-Willi syndrome
-
Kousseff BG. 1980. Chromosomal abnormality in Prader-Willi syndrome. Clin Genet 17:364-366.
-
(1980)
Clin Genet
, vol.17
, pp. 364-366
-
-
Kousseff, B.G.1
-
30
-
-
0035086382
-
Inherited duplication of Xq27.2? qter: Phenocopy of infantile Prader-Willi syndrome
-
Lammer EJ, Punglia DR, Fuchs AE, Rowe AG, Cotter PD. 2001. Inherited duplication of Xq27.2? qter: Phenocopy of infantile Prader-Willi syndrome. Clin Dysmorphol 10:141-144.
-
(2001)
Clin Dysmorphol
, vol.10
, pp. 141-144
-
-
Lammer, E.J.1
Punglia, D.R.2
Fuchs, A.E.3
Rowe, A.G.4
Cotter, P.D.5
-
31
-
-
0019377986
-
Deletions of chromosome 15 as a cause of the Prader-Willi syndrome
-
Ledbetter DH, Riccardi VM, Airhart SD, Strobel RJ, Keenan BS, Crawford JD. 1981. Deletions of chromosome 15 as a cause of the Prader-Willi syndrome. N Engl J Med 304:325-329.
-
(1981)
N Engl J Med
, vol.304
, pp. 325-329
-
-
Ledbetter, D.H.1
Riccardi, V.M.2
Airhart, S.D.3
Strobel, R.J.4
Keenan, B.S.5
Crawford, J.D.6
-
32
-
-
0032706412
-
Unusual phenotype in partial trisomy 14
-
Lemire EG, Cardwell S. 1999. Unusual phenotype in partial trisomy 14. Am J Med Genet 87:294-296.
-
(1999)
Am J Med Genet
, vol.87
, pp. 294-296
-
-
Lemire, E.G.1
Cardwell, S.2
-
33
-
-
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, 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
-
34
-
-
0018291022
-
Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases
-
Michaelsen KF, Lundsteen C, Hansen FJ. 1979. Prader-Willi syndrome and chromosomal mosaicism 46,XY/47,XY,+mar in two cases. Clin Genet 16:147-150.
-
(1979)
Clin Genet
, vol.16
, pp. 147-150
-
-
Michaelsen, K.F.1
Lundsteen, C.2
Hansen, F.J.3
-
35
-
-
0031725955
-
Prader-Willi-Like syndrome in a patient with an Xq23q25 duplication
-
Monaghan KG, Van Dyke DL, Feldman GL. 1998. Prader-Willi-Like syndrome in a patient with an Xq23q25 duplication. Am J Med Genet 80:227-231.
-
(1998)
Am J Med Genet
, vol.80
, pp. 227-231
-
-
Monaghan, K.G.1
Van Dyke, D.L.2
Feldman, G.L.3
-
36
-
-
0029590226
-
Sporadic occurrence of non-deletion Prader-Willi syndrome in two cases: A female with maternal uniparental disomy and a male with complex chromosomal rearrangement
-
Murthy SK, al-Nassar KE, Verghese L. 1995. Sporadic occurrence of non-deletion Prader-Willi syndrome in two cases: A female with maternal uniparental disomy and a male with complex chromosomal rearrangement. Nutrition 11(Suppl 5):650-652.
-
(1995)
Nutrition
, vol.11
, Issue.SUPPL. 5
, pp. 650-652
-
-
Murthy, S.K.1
Al-Nassar, K.E.2
Verghese, L.3
-
37
-
-
0023640088
-
Duplication of proximal 15q as a cause of Prader-Willi syndrome
-
Pettigrew AL, Gollin SM, Greenberg F, Riccardi VM, Ledbetter DH. 1987. Duplication of proximal 15q as a cause of Prader-Willi syndrome. Am J Med Genet 28:791-802.
-
(1987)
Am J Med Genet
, vol.28
, pp. 791-802
-
-
Pettigrew, A.L.1
Gollin, S.M.2
Greenberg, F.3
Riccardi, V.M.4
Ledbetter, D.H.5
-
38
-
-
0036523933
-
Characterisation of interstitial duplications and triplications of chromosome 15q11-q13
-
Roberts SE, Dennis NR, Browne CE, Willatt L, Woods CG, Cross I, Jacobs PA, Thomas NS. 2002. Characterisation of interstitial duplications and triplications of chromosome 15q11-q13. Hum Genet 110:227-234.
-
(2002)
Hum Genet
, vol.110
, pp. 227-234
-
-
Roberts, S.E.1
Dennis, N.R.2
Browne, C.E.3
Willatt, L.4
Woods, C.G.5
Cross, I.6
Jacobs, P.A.7
Thomas, N.S.8
-
39
-
-
0028194918
-
Prader-Willi-like phenotype in fragile X syndrome
-
Schrander-Stumpel C, Gerver W-J, Meyer H, Engelen J, Mulder H, Fryns J-P. 1994. Prader-Willi-like phenotype in fragile X syndrome. Clin Genet 45:175-180.
-
(1994)
Clin Genet
, vol.45
, pp. 175-180
-
-
Schrander-Stumpel, C.1
Gerver, W.-J.2
Meyer, H.3
Engelen, J.4
Mulder, H.5
Fryns, J.-P.6
-
40
-
-
0029816702
-
Interstitial 6q deletion and Prader-Willi-like phenotype
-
Stein CK, Stred SE, Thomson LL, Smith FC, Hoo JJ. 1996. Interstitial 6q deletion and Prader-Willi-like phenotype. Clin Genet 49:306-310.
-
(1996)
Clin Genet
, vol.49
, pp. 306-310
-
-
Stein, C.K.1
Stred, S.E.2
Thomson, L.L.3
Smith, F.C.4
Hoo, J.J.5
-
41
-
-
0031726172
-
Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndrome
-
Stratakis CA. 1998. Prader-Willi syndrome phenotype in X chromosome anomalies: Evidence for a distinct syndrome. Am J Med Genet 80:294-295.
-
(1998)
Am J Med Genet
, vol.80
, pp. 294-295
-
-
Stratakis, C.A.1
-
42
-
-
0032567914
-
Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes
-
Tümer Z, Wolff D, Silahtaroglu AN, Ørum A, Brøndum-Nielsen K. 1998a. Characterization of a supernumerary small marker X chromosome in two females with similar phenotypes. Am J Med Genet 76:45-50.
-
(1998)
Am J Med Genet
, vol.76
, pp. 45-50
-
-
Tümer, Z.1
Wolff, D.2
Silahtaroglu, A.N.3
Ørum, A.4
Brøndum-Nielsen, K.5
-
43
-
-
0031756650
-
Prader-Willi-Like phenotype and the proximal long arm of the X chromosome
-
Tümer Z, Tommerup N, Binkert F, Back E, Brøndum-Nielsen K. 1998b. Prader-Willi-Like phenotype and the proximal long arm of the X chromosome. Am J Med Genet 80:300-301.
-
(1998)
Am J Med Genet
, vol.80
, pp. 300-301
-
-
Tümer, Z.1
Tommerup, N.2
Binkert, F.3
Back, E.4
Brøndum-Nielsen, K.5
-
45
-
-
0030593844
-
Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood
-
Wevrick R, Francke U. 1996. Diagnostic test for the Prader-Willi syndrome by SNRPN expression in blood. Lancet 348:1068-1069.
-
(1996)
Lancet
, vol.348
, pp. 1068-1069
-
-
Wevrick, R.1
Francke, U.2
-
46
-
-
0021015074
-
Prader-Willi syndrome associated with inversion of chromosome 15
-
Winsor EJ, Welch JP. 1983. Prader-Willi syndrome associated with inversion of chromosome 15. Clin Genet 24:456-461.
-
(1983)
Clin Genet
, vol.24
, pp. 456-461
-
-
Winsor, E.J.1
Welch, J.P.2
-
47
-
-
0027930212
-
A variety of genetic mechanisms are associated with the Prader-Willi syndrome
-
Woodage T, Deng Z-M, Prasad M, Smart R, Lindeman R, Christian SL, Ledbetter DH, Robson L, Smith A, Trent RJ. 1994. A variety of genetic mechanisms are associated with the Prader-Willi syndrome. Am J Med Genet 54:219-226.
-
(1994)
Am J Med Genet
, vol.54
, pp. 219-226
-
-
Woodage, T.1
Deng, Z.-M.2
Prasad, M.3
Smart, R.4
Lindeman, R.5
Christian, S.L.6
Ledbetter, D.H.7
Robson, L.8
Smith, A.9
Trent, R.J.10
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