-
1
-
-
0019837311
-
A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation
-
Kuroki Y, Suzuki Y, Chyo H, Hata A. A new malformation syndrome of long palpebral fissures, large ears, depressed nasal tip, and skeletal anomalies associated with postnatal dwarfism and mental retardation. J Pediatr 1981: 99: 570–573.
-
(1981)
J Pediatr
, vol.99
, pp. 570-573
-
-
Kuroki, Y.1
Suzuki, Y.2
Chyo, H.3
Hata, A.4
-
2
-
-
0019850335
-
Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency
-
Niikawa N, Matsuura N, Fukushima Y, Ohsawa T, Kajii T. Kabuki make-up syndrome: a syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 1981: 99: 565–569.
-
(1981)
J Pediatr
, vol.99
, pp. 565-569
-
-
Niikawa, N.1
Matsuura, N.2
Fukushima, Y.3
Ohsawa, T.4
Kajii, T.5
-
3
-
-
84881670308
-
MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study
-
Makrythanasis P, van Bon B, Steehouwer M et al. MLL2 mutation detection in 86 patients with Kabuki syndrome: a genotype-phenotype study. Clin Genet 2013: 84: 539–545.
-
(2013)
Clin Genet
, vol.84
, pp. 539-545
-
-
Makrythanasis, P.1
van Bon, B.2
Steehouwer, M.3
-
4
-
-
79959532375
-
Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome
-
Hannibal MC, Buckingham KJ, Ng SB et al. Spectrum of MLL2 (ALR) mutations in 110 cases of Kabuki syndrome. Am J Med Genet A 2011: 155A: 1511–1516.
-
(2011)
Am J Med Genet A
, vol.155
, pp. 1511-1516
-
-
Hannibal, M.C.1
Buckingham, K.J.2
Ng, S.B.3
-
5
-
-
84864152058
-
Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome
-
Kokitsu-Nakata NM, Petrin AL, Heard JP et al. Analysis of MLL2 gene in the first Brazilian family with Kabuki syndrome. Am J Med Genet A 2012: 158A: 2003–2008.
-
(2012)
Am J Med Genet A
, vol.158
, pp. 2003-2008
-
-
Kokitsu-Nakata, N.M.1
Petrin, A.L.2
Heard, J.P.3
-
6
-
-
84898923785
-
A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A
-
Lederer D, Shears D, Benoit V, Verellen-Dumoulin C, Maystadt I. A three generation X-linked family with Kabuki syndrome phenotype and a frameshift mutation in KDM6A. Am J Med Genet A 2014: 164A: 1289–1292.
-
(2014)
Am J Med Genet A
, vol.164
, pp. 1289-1292
-
-
Lederer, D.1
Shears, D.2
Benoit, V.3
Verellen-Dumoulin, C.4
Maystadt, I.5
-
7
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 2010: 42: 790–793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
-
8
-
-
79551505871
-
MLL2 mutation spectrum in 45 patients with Kabuki syndrome
-
Paulussen ADC, Stegmann APA, Blok MJ et al. MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat 2011: 32: E2018–E2025.
-
(2011)
Hum Mutat
, vol.32
, pp. E2018-E2025
-
-
Paulussen, A.D.C.1
Stegmann, A.P.A.2
Blok, M.J.3
-
9
-
-
84858342744
-
How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum
-
Banka S, Veeramachaneni R, Reardon W et al. How genetically heterogeneous is Kabuki syndrome?: MLL2 testing in 116 patients, review and analyses of mutation and phenotypic spectrum. Eur J Hum Genet 2012: 20: 381–388.
-
(2012)
Eur J Hum Genet
, vol.20
, pp. 381-388
-
-
Banka, S.1
Veeramachaneni, R.2
Reardon, W.3
-
10
-
-
79958047953
-
Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients
-
Micale L, Augello B, Fusco C et al. Mutation spectrum of MLL2 in a cohort of Kabuki syndrome patients. Orphanet J Rare Dis 2011: 6: 38.
-
(2011)
Orphanet J Rare Dis
, vol.6
, pp. 38
-
-
Micale, L.1
Augello, B.2
Fusco, C.3
-
11
-
-
84881667094
-
MLL2 and KDM6A mutations in patients with Kabuki syndrome
-
Miyake N, Koshimizu E, Okamoto N et al. MLL2 and KDM6A mutations in patients with Kabuki syndrome. Am J Med Genet A 2013: 161: 2234–2243.
-
(2013)
Am J Med Genet A
, vol.161
, pp. 2234-2243
-
-
Miyake, N.1
Koshimizu, E.2
Okamoto, N.3
-
12
-
-
84882849258
-
Clinical and molecular spectrum of renal malformations in Kabuki syndrome
-
Courcet J-B, Faivre L, Michot C et al. Clinical and molecular spectrum of renal malformations in Kabuki syndrome. J Pediatr 2013: 163: 742–746.
-
(2013)
J Pediatr
, vol.163
, pp. 742-746
-
-
Courcet, J.-B.1
Faivre, L.2
Michot, C.3
-
14
-
-
84902074147
-
Molecular analysis, pathogenic mechanisms, and read through therapy on a large cohort of Kabuki syndrome patients
-
Micale L, Augello B, Maffeo C et al. Molecular analysis, pathogenic mechanisms, and read through therapy on a large cohort of Kabuki syndrome patients. Hum Mutat 2014: 35 (7): 841–850.
-
(2014)
Hum Mutat
, vol.35
, Issue.7
, pp. 841-850
-
-
Micale, L.1
Augello, B.2
Maffeo, C.3
-
15
-
-
82555194140
-
A mutation screen in patients with Kabuki syndrome
-
Li Y, Bögershausen N, Alanay Y et al. A mutation screen in patients with Kabuki syndrome. Hum Genet 2011: 130: 715–724.
-
(2011)
Hum Genet
, vol.130
, pp. 715-724
-
-
Li, Y.1
Bögershausen, N.2
Alanay, Y.3
-
16
-
-
84874020927
-
MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome
-
Banka S, Howard E, Bunstone S et al. MLL2 mosaic mutations and intragenic deletion-duplications in patients with Kabuki syndrome. Clin Genet 2013: 83: 467–471.
-
(2013)
Clin Genet
, vol.83
, pp. 467-471
-
-
Banka, S.1
Howard, E.2
Bunstone, S.3
-
17
-
-
84922733435
-
Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2)
-
Banka S, Lederer D, Benoit V et al. Novel KDM6A (UTX) mutations and a clinical and molecular review of the X-linked Kabuki syndrome (KS2). Clin Genet 2015: 87 (3): 252–258. DOI: 10.1111/cge.12363.
-
(2015)
Clin Genet
, vol.87
, Issue.3
, pp. 252-258
-
-
Banka, S.1
Lederer, D.2
Benoit, V.3
-
18
-
-
84855833698
-
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
-
Lederer D, Grisart B, Digilio MC et al. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 2012: 90: 119–124.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 119-124
-
-
Lederer, D.1
Grisart, B.2
Digilio, M.C.3
-
19
-
-
67649520260
-
Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome
-
Kuniba H, Yoshiura K, Kondoh T et al. Molecular karyotyping in 17 patients and mutation screening in 41 patients with Kabuki syndrome. J Hum Genet 2009: 54: 304–309.
-
(2009)
J Hum Genet
, vol.54
, pp. 304-309
-
-
Kuniba, H.1
Yoshiura, K.2
Kondoh, T.3
-
20
-
-
84867898120
-
Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome
-
Priolo M, Micale L, Augello B et al. Absence of deletion and duplication of MLL2 and KDM6A genes in a large cohort of patients with Kabuki syndrome. Mol Genet Metab 2012: 107: 627–629.
-
(2012)
Mol Genet Metab
, vol.107
, pp. 627-629
-
-
Priolo, M.1
Micale, L.2
Augello, B.3
-
21
-
-
0037090887
-
ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation
-
Bienvenu T, Poirier K, Friocourt G et al. ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet 2002: 11: 981–991.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 981-991
-
-
Bienvenu, T.1
Poirier, K.2
Friocourt, G.3
-
23
-
-
0032819848
-
A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation
-
Carrie A, Jun L, Bienvenu T et al. A new member of the IL-1 receptor family highly expressed in hippocampus and involved in X-linked mental retardation. Nat Genet 1999: 23: 25–31.
-
(1999)
Nat Genet
, vol.23
, pp. 25-31
-
-
Carrie, A.1
Jun, L.2
Bienvenu, T.3
-
24
-
-
79251512326
-
Intragenic deletions of IL1RAPL1: report of two cases and review of the literature
-
Behnecke A, Hinderhofer K, Bartsch O et al. Intragenic deletions of IL1RAPL1: report of two cases and review of the literature. Am J Med Genet A 2011: 155A (2): 372–379. DOI: 10.1002/ajmg.a.33656.
-
(2011)
Am J Med Genet A
, vol.155
, Issue.2
, pp. 372-379
-
-
Behnecke, A.1
Hinderhofer, K.2
Bartsch, O.3
-
25
-
-
0026764256
-
Dystrophinopathy in isolated cases of myopathy in females
-
Hoffman EP, Arahata K, Minetti C, Bonilla E, Rowland LP. Dystrophinopathy in isolated cases of myopathy in females. Neurology 1992: 42 (5): 967–975.
-
(1992)
Neurology
, vol.42
, Issue.5
, pp. 967-975
-
-
Hoffman, E.P.1
Arahata, K.2
Minetti, C.3
Bonilla, E.4
Rowland, L.P.5
-
26
-
-
84930413242
-
Xp21 deletion in female patients with intellectual disability: two new cases and a review of the literature
-
Heide S, Afenjar A, Edery P et al. Xp21 deletion in female patients with intellectual disability: two new cases and a review of the literature. Eur J Med Genet 2015: 58 (6–7): 341–345. DOI: 10.1016/j.ejmg.2015.04.003.
-
(2015)
Eur J Med Genet
, vol.58
, Issue.6-7
, pp. 341-345
-
-
Heide, S.1
Afenjar, A.2
Edery, P.3
-
27
-
-
0023676470
-
Partial gene duplication in Duchenne and Becker muscular dystrophies
-
Hu X, Burghes AHM, Ra PN, Thompson MW, Murphy EG, Worton RG. Partial gene duplication in Duchenne and Becker muscular dystrophies. J Med Genet 1988: 25: 369–376.
-
(1988)
J Med Genet
, vol.25
, pp. 369-376
-
-
Hu, X.1
Burghes, A.H.M.2
Ra, P.N.3
Thompson, M.W.4
Murphy, E.G.5
Worton, R.G.6
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