-
1
-
-
0034011324
-
Kabuki syndrome and diaphragmatic defects: A frequent association in non-asian patients? [4]
-
DOI 10.1002/(SICI)1096-8628(20000313)91:2<164::AID
-
Donadio A, Garavelli L, Banchini G, et al. Kabuki syndrome and diaphragmatic defects: a frequent association in non-Asian patients? Am J Med Genet 2000; 91: 164-5. [CrossRef] [Medline] [Web of Science] (Pubitemid 30133659)
-
(2000)
American Journal of Medical Genetics
, vol.91
, Issue.2
, pp. 164-165
-
-
Donadio, A.1
Garavelli, L.2
Banchini, G.3
Neri, G.4
-
2
-
-
2442536886
-
Growth, behavior, and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome
-
White SM, Thompson EM, Kidd A, et al. Growth, behavior and clinical findings in 27 patients with Kabuki (Niikawa-Kuroki) syndrome. Am J Med Genet A 2004; 127: 118-27. Search Google Scholar (Pubitemid 38649951)
-
(2004)
American Journal of Medical Genetics
, vol.127 A
, Issue.2
, pp. 118-127
-
-
White, S.M.1
Thompson, E.M.2
Kidd, A.3
Savarirayan, R.4
Turner, A.5
Amor, D.6
Delatycki, M.B.7
Fahey, M.8
Baxendale, A.9
White, S.10
Haan, E.11
Gibson, K.12
Halliday, J.L.13
Bankier, A.14
-
3
-
-
14044272145
-
Kabuki syndrome: A review
-
DOI 10.1111/j.1399-0004.2004.00348.x
-
Adam MP, Hudgins L. Kabuki syndrome: a review. Clin Genet 2005; 67: 209-19. [CrossRef] [Medline] [Web of Science] (Pubitemid 40277901)
-
(2005)
Clinical Genetics
, vol.67
, Issue.3
, pp. 209-219
-
-
Adam, M.P.1
Hudgins, L.2
-
4
-
-
11344267597
-
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management
-
DOI 10.1002/ajmg.a.30331
-
Schrander-Stumpel CT, Spruyt L, Curfs LM, et al. Kabuki syndrome: Clinical data in 20 patients, literature review and further guidelines for preventive management. Am J Med Genet A 2005; 132: 234-43. Search Google Scholar (Pubitemid 40076222)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.3
, pp. 234-243
-
-
Schrander-Stumpel, C.Th.R.M.1
Spruyt, L.2
Curfs, L.M.G.3
Defloor, T.4
Schrander, J.J.P.5
-
5
-
-
19944428186
-
Further delineation of Kabuki syndrome in 48 well-defined new individuals
-
DOI 10.1002/ajmg.a.30340
-
Armstrong L, Abd El Moneim A, Aleck K, et al. Further delineation of Kabuki syndrome in 48 well-defined new individuals. Am J Med Genet A 2005; 132: 265-72. Search Google Scholar (Pubitemid 40076228)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.3
, pp. 265-272
-
-
Armstrong, L.1
El, M.A.A.2
Aleck, K.3
Aughton, D.J.4
Baumann, C.5
Braddock, S.R.6
Gillessen-Kaesbach, G.7
Graham Jr., J.M.8
Grebe, T.A.9
Gripp, K.W.10
Hall, B.D.11
Hennekam, R.12
Hunter, A.13
Keppler-Noreuil, K.14
Lacombe, D.15
Lin, A.E.16
Ming, J.E.17
Kokitsu-Nakata, N.M.18
Nikkel, S.M.19
Philip, N.20
Raas-Rothschild, A.21
Sommer, A.22
Verloes, A.23
Walter, C.24
Wieczorek, D.25
Williams, M.S.26
Zackai, E.27
Allanson, J.E.28
more..
-
6
-
-
0036009942
-
Kabuki syndrome: A review study of three hundred patients
-
Wessels MW, Brooks AS, Hoogeboom J, et al. Kabuki Syndrome: a review study of three hundred patients. Clin Dysmorphol 2002; 11: 95-102. [CrossRef] [Medline] [Web of Science] (Pubitemid 34297923)
-
(2002)
Clinical Dysmorphology
, vol.11
, Issue.2
, pp. 95-102
-
-
Wessels, M.W.1
Brooks, A.S.2
Hoogeboom, J.3
Niermeijer, M.F.4
Willems, P.J.5
-
7
-
-
0023696864
-
Kabuki make-up (Niikawa-Kuroki) syndrome: A study of 62 patients
-
DOI 10.1002/ajmg.1320310312
-
Niikawa N, Kuroki Y, Kajii T, et al. Kabuki make-up (Niikawa-Kuroki) syndrome: a study of 62 patients. Am J Med Genet 1988; 31: 565-89. [CrossRef] [Medline] [Web of Science] (Pubitemid 18264330)
-
(1988)
American Journal of Medical Genetics
, vol.31
, Issue.3
, pp. 565-589
-
-
Niikawa, N.1
Kuroki, Y.2
Kajii, T.3
Matsuura, N.4
Ishikiriyama, S.5
Tonoki, H.6
Ishikawa, N.7
Yamada, Y.8
Fujita, M.9
Umemoto, H.10
Iwama, Y.11
Kondoh, I.12
Fukushima, Y.13
Nako, Y.14
Matsui, I.15
Urakami, T.16
Aritaki, S.17
Hara, M.18
Suzuki, Y.19
-
8
-
-
0028261004
-
The Kabuki (Niikawa-Kuroki) syndrome: Further delineation of the phenotype in 29 non-Japanese patients
-
DOI 10.1007/s004310050170
-
Schrander-Stumpel C, Meinecke P, Wilson G, et al. The Kabuki (Niikawa-Kuroki) syndrome: further delineation of the phenotype in 29 non-Japanese patients. Eur J Pediatr 1994; 153: 438-45. [Medline] [Web of Science] (Pubitemid 24183783)
-
(1994)
European Journal of Pediatrics
, vol.153
, Issue.6
, pp. 438-445
-
-
Schrander-Stumpel, C.1
Meinecke, P.2
Wilson, G.3
Gillessen-Kaesbach, G.4
Tinschert, S.5
Konig, R.6
Philip, N.7
Rizzo, R.8
Schrander, J.9
Pfeiffer, L.10
Maat-Kievit, A.11
Van Der, B.I.12
Van Essen, T.13
Latta, E.14
Hillig, U.15
Verloes, A.16
Journel, H.17
Fryns, J.P.18
-
9
-
-
0030696117
-
Ectodermal abnormalities in Kabuki syndrome
-
DOI 10.1002/(SICI)1096-8628(19971219)73:3<263::AID
-
Lerone M, Priolo M, Naselli A, et al. Ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 1997; 73: 263-6. [CrossRef] [Medline] [Web of Science] (Pubitemid 27509899)
-
(1997)
American Journal of Medical Genetics
, vol.73
, Issue.3
, pp. 263-266
-
-
Lerone, M.1
Priolo, M.2
Naselli, A.3
Vignolo, M.4
Romeo, G.5
Silengo, M.C.6
-
10
-
-
0034640653
-
Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome
-
[CrossRef] [Medline] [Web of Science]
-
Courtens W, Rassart A, Stene JJ, Vamos E. Further evidence for autosomal dominant inheritance and ectodermal abnormalities in Kabuki syndrome. Am J Med Genet 2000; 93: 244-9. [CrossRef] [Medline] [Web of Science]
-
(2000)
Am J Med Genet
, vol.93
, pp. 244-249
-
-
Courtens, W.1
Rassart, A.2
Stene, J.J.3
Vamos, E.4
-
11
-
-
0024450684
-
Autosomal dominant inheritance of the Kabuki make-up (Niiwaka-Kuroki) syndrome
-
Halal F, Gledhill R, Dudkiewicz A. Autosomal dominant inheritance of the Kabuki make-up (Niikawa-Kuroki) syndrome. Am J Med Genet 1989; 33: 376-81. [CrossRef] [Medline] [Web of Science] (Pubitemid 19216880)
-
(1989)
American Journal of Medical Genetics
, vol.33
, Issue.3
, pp. 376-381
-
-
Halal, F.1
Gledhill, R.2
Dudkiewicz, A.3
-
12
-
-
0028903780
-
Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: Ten new observations
-
[CrossRef] [Medline] [Web of Science]
-
Ilyina H, Lurie I, Naumtchik I, et al. Kabuki make-up (Niikawa-Kuroki) syndrome in the Byelorussian register of congenital malformations: ten new observations. Am J Med Genet 1995; 56: 127-31. [CrossRef] [Medline] [Web of Science]
-
(1995)
Am J Med Genet
, vol.56
, pp. 127-131
-
-
Ilyina, H.1
Lurie, I.2
Naumtchik, I.3
-
13
-
-
0037100032
-
Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation
-
DOI 10.1002/ajmg.10474
-
Shotelersuk V, Punyashthiti R, Srivuthana S, et al. Kabuki syndrome: report of six Thai children and further phenotypic and genetic delineation. Am J Med Genet 2002; 110: 384-90. [CrossRef] [Medline] [Web of Science] (Pubitemid 34701055)
-
(2002)
American Journal of Medical Genetics
, vol.110
, Issue.4
, pp. 384-390
-
-
Shotelersuk, V.1
Punyashthiti, R.2
Srivuthana, S.3
Wacharasindhu, S.4
-
14
-
-
0030592939
-
Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome
-
[CrossRef] [Medline] [Web of Science]
-
Silengo M, Lerone M, Seri M, et al. Inheritance of Niikawa-Kuroki (Kabuki makeup) syndrome. Am J Med Genet 1996; 66: 368. [CrossRef] [Medline] [Web of Science]
-
(1996)
Am J Med Genet
, vol.66
, pp. 368
-
-
Silengo, M.1
Lerone, M.2
Seri, M.3
-
15
-
-
0027156771
-
Three patients with ring (X) chromosomes and a severe phenotype
-
Dennis NR, Collins AL, Crolla JA, et al. Three patients with ring (X) chromosomes and a severe phenotype. J Med Genet 1993; 30: 482-6. [Abstract/FREE Full text] (Pubitemid 23197267)
-
(1993)
Journal of Medical Genetics
, vol.30
, Issue.6
, pp. 482-486
-
-
Dennis, N.R.1
Collins, A.L.2
Crolla, J.A.3
Cockwell, A.E.4
Fisher, A.M.5
Jacobs, P.A.6
-
16
-
-
0030995928
-
Ring chromosome X in a child with manifestations of Kabuki syndrome
-
DOI 10.1002/(SICI)1096-8628(19970502)70:1<37::AID-
-
McGinniss MJ, Brown DH, Burke LW, et al. Ring chromosome X in a child with manifestations of Kabuki syndrome. Am J Med Genet 1997; 70: 37-42. [CrossRef] [Medline] [Web of Science] (Pubitemid 27183874)
-
(1997)
American Journal of Medical Genetics
, vol.70
, Issue.1
, pp. 37-42
-
-
McGinniss, M.J.1
Brown, D.H.2
Burke, L.W.3
Mascarello, J.T.4
Jones, M.C.5
-
17
-
-
0028139279
-
Kabuki make-up and Turner syndromes in the same patient
-
Wellesley DG, Slaney S. Kabuki make-up and Turner syndromes in the same patient. Clin Dysmorphol 1994; 3: 297-300. [Medline] (Pubitemid 24360778)
-
(1994)
Clinical Dysmorphology
, vol.3
, Issue.4
, pp. 297-300
-
-
Wellesley, D.G.1
Slaney, S.2
-
18
-
-
0031840088
-
Interstitial dup(1p) with findings of Kabuki make-up syndrome
-
DOI 10.1002/(SICI)1096-8628(19980616)78:1<55::AID
-
Lo IF, Cheung LY, Ng AY, et al. Interstitial Dup(1p) with findings of Kabuki make-up syndrome. Am J Med Genet 1998; 78: 55-7. [CrossRef] [Medline] [Web of Science] (Pubitemid 28249121)
-
(1998)
American Journal of Medical Genetics
, vol.78
, Issue.1
, pp. 55-57
-
-
Lo, I.F.M.1
Cheung, L.Y.K.2
Ng, A.Y.Y.3
Lam, S.T.S.4
-
19
-
-
0027942608
-
Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4 [2]
-
DOI 10.1002/ajmg.1320530219
-
Fryns JP, Van den Berghe H, Schrander-Stumpel C. Kabuki (Niikawa-Kuroki) syndrome and paracentric inversion of the short arm of chromosome 4. Am J Med Genet 1994; 53: 204-5. [CrossRef] [Medline] [Web of Science] (Pubitemid 24335908)
-
(1994)
American Journal of Medical Genetics
, vol.53
, Issue.2
, pp. 204-205
-
-
Fryns, J.-P.1
Van Den, B.H.2
Schrander-Stumpel, C.3
-
20
-
-
0027250529
-
Partial 6q monosomy/partial 12q trisomy in a child with features of Kabuki make-up syndrome
-
Jardine PE, Burvill-Holmes LC, Schutt WH, et al. Partial 6q monosomy /partial 12q trisomy in a child with features of Kabuki make-up syndrome. Clin Dysmorphol 1993; 2: 269-73. [Medline] (Pubitemid 23240641)
-
(1993)
Clinical Dysmorphology
, vol.2
, Issue.3
, pp. 269-273
-
-
Jardine, P.E.1
Burvill-Holmes, L.C.2
Schutt, W.H.3
Lunt, P.W.4
-
21
-
-
0028848240
-
Kabuki make-up (Niikawa-Kuroki) syndrome in fiv e Spanish children
-
[CrossRef] [Medline] [Web of Science]
-
Galan-Gomez E, Cardesa-Garcia JJ, Campo-Sampedro FM, et al. Kabuki make-up (Niikawa-Kuroki) syndrome in fiv e Spanish children. Am J Med Genet 1995; 59: 276-82. [CrossRef] [Medline] [Web of Science]
-
(1995)
Am J Med Genet
, vol.59
, pp. 276-282
-
-
Galan-Gomez, E.1
Cardesa-Garcia, J.J.2
Campo-Sampedro, F.M.3
-
22
-
-
0028943017
-
Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13
-
[Abstract/FREE Full text]
-
Lynch SA, Ashcroft KA, Zwolinski S, et al. Kabuki syndrome-like features in monozygotic twin boys with a pseudodicentric chromosome 13. J Med Genet 1995; 32: 227-30. [Abstract/FREE Full text]
-
(1995)
J Med Genet
, vol.32
, pp. 227-230
-
-
Lynch, S.A.1
Ashcroft, K.A.2
Zwolinski, S.3
-
23
-
-
0029858527
-
Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2
-
[CrossRef] [Medline] [Web of Science]
-
Li M, Zackai EH, Niikawa N, et al. Kabuki syndrome is not caused by a microdeletion in the DiGeorge/velocardiofacial chromosomal region within 22q 11.2. Am J Med Genet 1996; 65: 101-3. [CrossRef] [Medline] [Web of Science]
-
(1996)
Am J Med Genet
, vol.65
, pp. 101-103
-
-
Li, M.1
Zackai, E.H.2
Niikawa, N.3
-
24
-
-
0032848882
-
Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41
-
DOI 10.1002/(SICI)1096-8628(19990917)86:3<285::AID
-
Makita Y, Yamada K, Miyamoto A, et al. Kabuki make-up syndrome is not caused by microdeletion close to the van der Woude syndrome critical region at 1q32-q41. Am J Med Genet 1999; 86: 285-8. [CrossRef] [Medline] [Web of Science] (Pubitemid 29465879)
-
(1999)
American Journal of Medical Genetics
, vol.86
, Issue.3
, pp. 285-288
-
-
Makita, Y.1
Yamada, K.2
Miyamoto, A.3
Okuno, A.4
Niikawa, N.5
-
25
-
-
33645560349
-
No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome
-
[Medline]
-
Bottani A, Pardo B, Bouchardy I, et al. No major contribution of the TGFBR1- and TGFBR2-mediated pathway to Kabuki syndrome. Am J Med Genet A 2006; 140: 903-5. [Medline]
-
(2006)
Am J Med Genet A
, vol.140
, pp. 903-905
-
-
Bottani, A.1
Pardo, B.2
Bouchardy, I.3
-
26
-
-
0344308337
-
Unmasking Kabuki syndrome: Chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH
-
DOI 10.1046/j.1399-0004.2003.00189.x
-
Milunsky JM, Huang XL. Unmasking Kabuki syndrome: chromosome 8p22-8p23.1 duplication revealed by comparative genomic hybridization and BAC-FISH. Clin Genet 2003; 64: 509-16. [CrossRef] [Medline] [Web of Science] (Pubitemid 37493122)
-
(2003)
Clinical Genetics
, vol.64
, Issue.6
, pp. 509-516
-
-
Milunsky, J.M.1
Huang, X.L.2
-
27
-
-
4444235676
-
On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS [2]
-
DOI 10.1002/ajmg.a.30137
-
Miyake N, Harada N, Shimokawa O, et al. On the reported 8p22-p23.1 duplication in Kabuki make-up syndrome (KMS) and its absence in patients with typical KMS. Am J Med Genet A 2004; 128: 170-2. Search Google Scholar (Pubitemid 39162941)
-
(2004)
American Journal of Medical Genetics
, vol.128 A
, Issue.2
, pp. 170-172
-
-
Miyake, N.1
Harada, N.2
Shimokawa, O.3
Ohashi, H.4
Kurosawa, K.5
Matsumoto, T.6
Fukushima, Y.7
Nagai, T.8
Shotelersuk, V.9
Yoshiura, K.-I.10
Ohta, T.11
Kishino, T.12
Niikawa, N.13
Matsumoto, N.14
-
28
-
-
11344286781
-
Kabuki syndrome is not caused by an 8p duplication: A cytogenetic study in 20 patients
-
DOI 10.1002/ajmg.a.30457
-
Engelen JJ, Loneus WH, Vaes-Peeters G, et al. Kabuki syndrome is not caused by an 8p duplication: a cytogenetic study in 20 patients. Am J Med Genet A 2005; 132: 276-7. Search Google Scholar (Pubitemid 40076230)
-
(2005)
American Journal of Medical Genetics
, vol.132 A
, Issue.3
, pp. 276-277
-
-
Engelen, J.J.M.1
Loneus, W.H.2
Vaes-Peeters, G.3
Schrander-Stumpel, C.T.R.M.4
-
29
-
-
13244288045
-
Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome
-
DOI 10.1136/jmg.2004.024372
-
Hoffman JD, Zhang Y, Greshock J, et al. Array based CGH and FISH fail to confirm duplication of 8p22-p23.1 in association with Kabuki syndrome. J Med Genet 2005; 42: 49-53. [Abstract/FREE Full text] (Pubitemid 40187121)
-
(2005)
Journal of Medical Genetics
, vol.42
, Issue.1
, pp. 49-53
-
-
Hoffman, J.D.1
Zhang, Y.2
Greshock, J.3
Ciprero, K.L.4
Emanuel, B.S.5
Zackai, E.H.6
Weber, B.L.7
Ming, J.E.8
-
30
-
-
21044433130
-
Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) syndrome
-
DOI 10.1038/sj.ejhg.5201383
-
Sanlaville D, Genevieve D, Bernardin C, et al. Failure to detect an 8p22-8p23.1 duplication in patients with Kabuki (Niikawa-Kuroki) sy ndrome. Eur J Hum Genet 2005; 13: 690-3. [CrossRef ] [Medline] [Web of Science] (Pubitemid 40691412)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.5
, pp. 690-693
-
-
Sanlaville, D.1
Genevieve, D.2
Bernardin, C.3
Amiel, J.4
Baumann, C.5
De Blois, M.-C.6
Cormier-Daire, V.7
Gerard, B.8
Gerard, M.9
Le, M.M.10
Parent, P.11
Prieur, F.12
Prieur, M.13
Raoul, O.14
Toutain, A.15
Verloes, A.16
Viot, G.17
Romana, S.18
Munnich, A.19
Lyonnet, S.20
Vekemans, M.21
Turleau, C.22
more..
-
31
-
-
13544261742
-
Genome-wide screening using array-CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome
-
DOI 10.1038/sj.ejhg.5201309
-
Schoumans J, Nordgren A, Ruivenkamp C, et al. Genome-wide screening using array -CGH does not reveal microdeletions/microduplications in children with Kabuki syndrome. Eur J Hum Genet 2005; 13: 260-3. [CrossRef] [Medline] [Web of Science] (Pubitemid 40220573)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.2
, pp. 260-263
-
-
Schoumans, J.1
Nordgren, A.2
Ruivenkamp, C.3
Brondum-Nielsen, K.4
Teh, B.T.5
Anneren, G.6
Holmberg, E.7
Nordenskjold, M.8
Anderlid, B.-M.9
-
32
-
-
20544436897
-
Kabuki syndrome: New ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort
-
DOI 10.1038/sj.ejhg.5201377
-
Turner C, Lachlan K, Amerasinghe N, et al. Kabuki syndrome: new ocular findings but no evidence of 8p22-p23.1 duplications in a clinically defined cohort. Eur J Hum Genet 2005; 13: 716-20. [CrossRef] [Medline] [Web of Science] (Pubitemid 40846843)
-
(2005)
European Journal of Human Genetics
, vol.13
, Issue.6
, pp. 716-720
-
-
Turner, C.L.S.1
Lachlan, K.2
Amerasinghe, N.3
Hodgkins, P.4
Maloney, V.5
Barber, J.6
Temple, I.K.7
-
33
-
-
33746360519
-
BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome
-
[CrossRef] [Medline]
-
Kimberley KW, Morris CA, Hobart HH. BAC-FISH refutes report of an 8p22-8p23.1 inversion or duplication in 8 patients with Kabuki syndrome. BMC Med Genet 2006; 7: 46. [CrossRef] [Medline]
-
(2006)
BMC Med Genet
, vol.7
, pp. 46
-
-
Kimberley, K.W.1
Morris, C.A.2
Hobart, H.H.3
-
34
-
-
33747054494
-
Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: A new series of 140 patients and review of published reports
-
DOI 10.1136/jmg.2005.039453
-
Menten B, Maas N, Thienpont B, et al. Emerging patterns of cryptic chromosomal imbalance in patients with idiopathic mental retardation and multiple congenital anomalies: a new series of 140 patients and review of published reports. J Med Genet 2006; 43: 625-33. [Abstract/FREE Full text] (Pubitemid 44214899)
-
(2006)
Journal of Medical Genetics
, vol.43
, Issue.8
, pp. 625-633
-
-
Menten, B.1
Maas, N.2
Thienpont, B.3
Buysse, K.4
Vandesompele, J.5
Melotte, C.6
De Ravel, T.7
Van Vooren, S.8
Balikova, I.9
Backx, L.10
Janssens, S.11
De Paepe, A.12
De Moor, B.13
Moreau, Y.14
Marynen, P.15
Fryns, J.-P.16
Mortier, G.17
Devriendt, K.18
Speleman, F.19
Vermeesch, J.R.20
more..
-
35
-
-
1042299124
-
Belgian population data for 15 STR loci (AmpFlSTR SGM Plus and AmpFlSTR profiler PCR amplification kit)
-
DOI 10.1016/j.forsciint.2003.11.007
-
Decorte R, Engelen M, Larno L, et al. Belgian population data for 15 STR loci (AmpFlSTR SGM Plus and AmpFlSTR profiler PCR amplification kit). Forensic Sci Int 2004; 139: 211-13. [CrossRef] [Medline] [Web of Science] (Pubitemid 38201125)
-
(2004)
Forensic Science International
, vol.139
, Issue.2-3
, pp. 211-213
-
-
Decorte, R.1
Engelen, M.2
Larno, L.3
Nelissen, K.4
Gilissen, A.5
Cassiman, J.-J.6
-
36
-
-
33644887418
-
Allele frequency data for 19 short tandem repeats (PowerPlex 16 and FFFl) in a Belgian population sample
-
DOI 10.1111/j.1556-4029.2006.00089.x
-
Decorte R, Verhoeven E, Vanhoutte E, et al. Allele frequency data for 19 short tandem repeats (PowerPlex 16 and FFFl) in a Belgian population sample. J Forensic Sci 2006; 51: 436-7. [CrossRef] [Medline] [Web of Science] (Pubitemid 43382100)
-
(2006)
Journal of Forensic Sciences
, vol.51
, Issue.2
, pp. 436-437
-
-
Decorte, R.1
Verhoeven, E.2
Vanhoutte, E.3
Knaepen, K.4
Cassiman, J.-J.5
-
37
-
-
0036801881
-
DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG)
-
DOI 10.1038/sj.ejhg.5200858
-
Schollen E, Martens K, Geuzens E, et al. DHPLC analysis as a platform for molecular diagnosis of congenital disorders of glycosylation (CDG). Eur J Hum Genet 2002; 10: 643-8. [CrossRef] [Medline] [Web of Science] (Pubitemid 35277297)
-
(2002)
European Journal of Human Genetics
, vol.10
, Issue.10
, pp. 643-648
-
-
Schollen, E.1
Martens, K.2
Geuzens, E.3
Matthijs, G.4
-
38
-
-
20044362567
-
Molecular karyotyping: Array CGH quality criteria for constitutional genetic diagnosis
-
DOI 10.1369/jhc.4A6436.2005
-
Vermeesch JR, Melotte C, Froyen G, et al. Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem 2005; 53: 413-22. [Abstract/FREE Full text] (Pubitemid 40344086)
-
(2005)
Journal of Histochemistry and Cytochemistry
, vol.53
, Issue.3
, pp. 413-422
-
-
Vermeesch, J.R.1
Melotte, C.2
Froyen, G.3
Van Vooren, S.4
Dutta, B.5
Maas, N.6
Vermeulen, S.7
Menten, B.8
Speleman, F.9
De Moor, B.10
Van Hummelen, P.11
Marynen, P.12
Fryns, J.-P.13
Devriendt, K.14
-
39
-
-
0027968068
-
CLUSTAL W: Improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice
-
Thompson JD, Higgins DG, Gibson TJ. CLUSTAL W: improving the sensitivity of progressive multiple sequence alignment through sequence weighting, position-specific gap penalties and weight matrix choice. Nucleic Acids Res 1994; 22: 4673-80. [Abstract/FREE Full text] (Pubitemid 24354800)
-
(1994)
Nucleic Acids Research
, vol.22
, Issue.22
, pp. 4673-4680
-
-
Thompson, J.D.1
Higgins, D.G.2
Gibson, T.J.3
-
40
-
-
33751329250
-
Global variation in copy number in the human genome
-
DOI 10.1038/nature05329, PII NATURE05329
-
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006; 444: 444-54. [CrossRef] [Medline] (Pubitemid 44809057)
-
(2006)
Nature
, vol.444
, Issue.7118
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
Feuk, L.4
Perry, G.H.5
Andrews, T.D.6
Fiegler, H.7
Shapero, M.H.8
Carson, A.R.9
Chen, W.10
Cho, E.K.11
Dallaire, S.12
Freeman, J.L.13
Gonzalez, J.R.14
Gratacos, M.15
Huang, J.16
Kalaitzopoulos, D.17
Komura, D.18
MacDonald, J.R.19
Marshall, C.R.20
Mei, R.21
Montgomery, L.22
Nishimura, K.23
Okamura, K.24
Shen, F.25
Somerville, M.J.26
Tchinda, J.27
Valsesia, A.28
Woodwark, C.29
Yang, F.30
Zhang, J.31
Zerjal, T.32
Zhang, J.33
Armengol, L.34
Conrad, D.F.35
Estivill, X.36
Tyler-Smith, C.37
Carter, N.P.38
Aburatani, H.39
Lee, C.40
Jones, K.W.41
Scherer, S.W.42
Hurles, M.E.43
more..
-
41
-
-
33846531959
-
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
DOI 10.1093/hmg/ddl436
-
Simon-Sanchez J, Scholz S, Fung HC, et al. Genome-wide SNP assay reveals structural genomic variation, extended homozy gosity and cell-line induced alterations in normal indiv iduals. Hum Mol Genet 2007; 16: 1-14. [Abstract/FREE Full text] (Pubitemid 46152540)
-
(2007)
Human Molecular Genetics
, vol.16
, Issue.1
, pp. 1-14
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.-C.3
Matarin, M.4
Hernandez, D.5
Gibbs, J.R.6
Britton, A.7
De Vrieze, F.W.8
Peckham, E.9
Gwinn-Hardy, K.10
Crawley, A.11
Keen, J.C.12
Nash, J.13
Borgaonkar, D.14
Hardy, J.15
Singleton, A.16
-
42
-
-
0029022770
-
Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP
-
[CrossRef] [Medline]
-
Petrij F, Giles RH, Dauwerse HG, et al. Rubinstein-Taybi syndrome caused by mutations in the transcriptional coactivator CBP. Nature 1995; 376: 348-51. [CrossRef] [Medline]
-
(1995)
Nature
, vol.376
, pp. 348-351
-
-
Petrij, F.1
Giles, R.H.2
Dauwerse, H.G.3
-
43
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
DOI 10.1038/ng772
-
Tartaglia M, Mehler EL, Goldberg R, et al. Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 2001; 29: 465-8. [CrossRef] [Medline] [Web of Science] (Pubitemid 34326699)
-
(2001)
Nature Genetics
, vol.29
, Issue.4
, pp. 465-468
-
-
Tartaglia, M.1
Mehler, E.L.2
Goldberg, R.3
Zampino, G.4
Brunner, H.G.5
Kremer, H.6
Van Der, B.I.7
Crosby, A.H.8
Ion, A.9
Jeffery, S.10
Kalidas, K.11
Patton, M.A.12
Kucherlapati, R.S.13
Gelb, B.D.14
-
44
-
-
16544384819
-
SEMA3E mutation in a patient with CHARGE syndrome
-
[FREE Full text]
-
Lalani SR, Safiullah AM, Molinari LM, et al. SEMA3E mutation in a patient with CHARGE syndrome. J Med Genet 2004; 41: e94. [FREE Full text]
-
(2004)
J Med Genet
, vol.41
-
-
Lalani, S.R.1
Safiullah, A.M.2
Molinari, L.M.3
-
45
-
-
20144386935
-
Genetic heterogeneity in Rubinstein-Taybi syndrome: Mutations in both the CBP and EP300 genes cause disease
-
DOI 10.1086/429130
-
Roelfsema JH, White SJ, Ariyurek Y, et al. Genetic heterogeneity in Rubinstein-Taybi syndrome: mutations in both the CBP and EP300 genes cause disease. Am J Hum Genet 2005; 76: 572-80. [CrossRef] [Medline] [Web of Science] (Pubitemid 40432165)
-
(2005)
American Journal of Human Genetics
, vol.76
, Issue.4
, pp. 572-580
-
-
Roelfsema, J.H.1
White, S.J.2
Ariyurek, Y.3
Bartholdi, D.4
Niedrist, D.5
Papadia, F.6
Bacino, C.A.7
Den, D.J.T.8
Van Ommen, G.-J.B.9
Breuning, M.H.10
Hennekam, R.C.11
Peters, D.J.M.12
-
46
-
-
33644622238
-
Germline KRAS mutations cause Noonan syndrome
-
[CrossRef] [Medline] [Web of Science]
-
Schubbert S, Zenker M, Rowe SL, et al. Germline KRAS mutations cause Noonan syndrome. Nat Genet 2006; 38: 331-6. [CrossRef] [Medline] [Web of Science]
-
(2006)
Nat Genet
, vol.38
, pp. 331-336
-
-
Schubbert, S.1
Zenker, M.2
Rowe, S.L.3
-
47
-
-
33845870910
-
Sending out an SOS
-
DOI 10.1038/ng0107-8, PII NG01078
-
Shannon K, Bollag G. Sending out an SOS. Nat Genet 2007; 39: 8-9. [CrossRef] [Medline] [Web of Science] (Pubitemid 46026493)
-
(2007)
Nature Genetics
, vol.39
, Issue.1
, pp. 8-9
-
-
Shannon, K.1
Bollag, G.2
-
49
-
-
0035863669
-
Craniofacial and dental characteristics of Kabuki syndrome
-
DOI 10.1002/1096-8628(20010115)98:2<185::AID-AJMG1
-
Matsune K, Shimizu T, Tohma T, et al. Craniofacial and dental characteristics of Kabuki syndrome. Am J Med Genet 2001; 98: 185-90. [CrossRef] [Medline] [Web of Science] (Pubitemid 32051808)
-
(2001)
American Journal of Medical Genetics
, vol.98
, Issue.2
, pp. 185-190
-
-
Matsune, K.1
Shimizu, T.2
Tohma, T.3
Asada, Y.4
Ohashi, H.5
Maeda, T.6
-
50
-
-
1842430537
-
Ecto-ADP-ribosyltransferases (ARTs): Emerging actors in cell communication and signaling
-
DOI 10.2174/0929867043455611
-
Seman M, Adriouch S, Haag F, et al. Ecto-ADP-ribosyltransferases (ARTs): emerging actors in cell communication and signaling. Curr Med Chem 2004; 11: 857-72. [CrossRef] [Medline] [Web of Science] (Pubitemid 38425920)
-
(2004)
Current Medicinal Chemistry
, vol.11
, Issue.7
, pp. 857-872
-
-
Seman, M.1
Adriouch, S.2
Haag, F.3
Koch-Nolte, F.4
-
51
-
-
3343007088
-
Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature
-
Genevieve D, Amiel J, Viot G, et al. Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A 2004; 129: 64-8. Search Google Scholar (Pubitemid 38989046)
-
(2004)
American Journal of Medical Genetics
, vol.129 A
, Issue.1
, pp. 64-68
-
-
Genevieve, D.1
Amiel, J.2
Viot, G.3
Le, M.M.4
Sanlaville, D.5
Urtizberea, A.6
Gerard, M.7
Munnich, A.8
Cormier-Daire, V.9
Lyonnet, S.10
-
52
-
-
33645128921
-
Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development
-
[Abstract/FREE Full text]
-
Sanlaville D, Etchevers HC, Gonzales M, et al. Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development. J Med Genet 2006; 43: 211-17. [Abstract/FREE Full text]
-
(2006)
J Med Genet
, vol.43
, pp. 211-217
-
-
Sanlaville, D.1
Etchevers, H.C.2
Gonzales, M.3
-
53
-
-
21244444665
-
The macro domain is an ADP-ribose binding module
-
DOI 10.1038/sj.emboj.7600664
-
Karras GI, Kustatscher G, Buhecha HR, et al. The macro domain is an ADP-ribose binding module. EMBO J 2005; 24: 1911-20. [CrossRef] [Medline] [Web of Science] (Pubitemid 40896163)
-
(2005)
EMBO Journal
, vol.24
, Issue.11
, pp. 1911-1920
-
-
Karras, G.I.1
Kustatscher, G.2
Buhecha, H.R.3
Allen, M.D.4
Pugieux, C.5
Sait, F.6
Bycroft, M.7
Ladurner, A.G.8
|