-
1
-
-
0242351788
-
Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature
-
Binder G, Ranke MB, Martin DD. 2003. Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in school-age children with unexplained short stature. J Clin Endocrinol Metab 88:4891-4896.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4891-4896
-
-
Binder, G.1
Ranke, M.B.2
Martin, D.D.3
-
2
-
-
84921445011
-
Kabuki syndrome: Clinical and molecular diagnosis in the first year of life
-
Dentici ML, Di Pede A, Lepri FR, Gnazzo M, Lombardi MH, Auriti C, Petrocchi S, Pisaneschi E, Bellacchio E, Capolino R, Braguglia A, Angioni A, Dotta A, Digilio MC, Dallapiccola B. 2015. Kabuki syndrome: Clinical and molecular diagnosis in the first year of life. Arch Dis Child 100:158-164.
-
(2015)
Arch Dis Child
, vol.100
, pp. 158-164
-
-
Dentici, M.L.1
Di Pede, A.2
Lepri, F.R.3
Gnazzo, M.4
Lombardi, M.H.5
Auriti, C.6
Petrocchi, S.7
Pisaneschi, E.8
Bellacchio, E.9
Capolino, R.10
Braguglia, A.11
Angioni, A.12
Dotta, A.13
Digilio, M.C.14
Dallapiccola, B.15
-
3
-
-
0035874017
-
Congenital heart defects in Kabuki syndrome
-
Digilio MC, Marino B, Toscano A, Giannotti A, Dallapiccola B. 2001. Congenital heart defects in Kabuki syndrome. Am J Med Genet 100:269-274.
-
(2001)
Am J Med Genet
, vol.100
, pp. 269-274
-
-
Digilio, M.C.1
Marino, B.2
Toscano, A.3
Giannotti, A.4
Dallapiccola, B.5
-
5
-
-
0346749736
-
Skeletal dysplasia, growth hormone treatment and body proportion: Comparison with other syndromic and non-syndromic short children
-
Hagenäs L, Hertel T. 2003. Skeletal dysplasia, growth hormone treatment and body proportion: Comparison with other syndromic and non-syndromic short children. Horm Res 60:65-70.
-
(2003)
Horm Res
, vol.60
, pp. 65-70
-
-
Hagenäs, L.1
Hertel, T.2
-
6
-
-
84855833698
-
Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome
-
Lederer D, Grisart B, Digilio MC, Benoit V, Crespin M, Ghariani SC, Maystadt I, Dallapiccola B, Verellen-Dumoulin C. 2012. Deletion of KDM6A, a histone demethylase interacting with MLL2, in three patients with Kabuki syndrome. Am J Hum Genet 90:119-124.
-
(2012)
Am J Hum Genet
, vol.90
, pp. 119-124
-
-
Lederer, D.1
Grisart, B.2
Digilio, M.C.3
Benoit, V.4
Crespin, M.5
Ghariani, S.C.6
Maystadt, I.7
Dallapiccola, B.8
Verellen-Dumoulin, C.9
-
7
-
-
84893127903
-
The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis
-
Malaquias AC, Scalco RC, Fontenele EGP, Costalonga EF, Baldin AD, Braz AF, Funari MFA, Nishi MY, Guerra-Junior G, Mendonca BB, Arnhold IJP, Jorge AAL. 2013. The sitting height/height ratio for age in healthy and short individuals and its potential role in selecting short children for SHOX analysis. Horm Res Paediatr 80:449-456.
-
(2013)
Horm Res Paediatr
, vol.80
, pp. 449-456
-
-
Malaquias, A.C.1
Scalco, R.C.2
Fontenele, E.G.P.3
Costalonga, E.F.4
Baldin, A.D.5
Braz, A.F.6
Funari, M.F.A.7
Nishi, M.Y.8
Guerra-Junior, G.9
Mendonca, B.B.10
Arnhold, I.J.P.11
Jorge, A.A.L.12
-
8
-
-
0032876873
-
Kabuki syndrome: Description of dental findings in eight patients
-
Mhanni AA, Cross HG, Chudley AE. 1999. Kabuki syndrome: Description of dental findings in eight patients. Clin Genet 56:154-157.
-
(1999)
Clin Genet
, vol.56
, pp. 154-157
-
-
Mhanni, A.A.1
Cross, H.G.2
Chudley, A.E.3
-
9
-
-
77956642100
-
Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
-
Ng SB, Bigham AW, Buckingham KJ, Hannibal MC, McMillin MJ, Gildersleeve HI, Beck AE, Tabor HK, Cooper GM, Mefford HC, Lee C, Turner EH, Smith JD, Rieder MJ, Yoshiura K, Matsumoto N, Ohta T, Niikawa N, Nickerson DA, Bamshad MJ, Shendure J. 2010. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nat Genet 42:790-793.
-
(2010)
Nat Genet
, vol.42
, pp. 790-793
-
-
Ng, S.B.1
Bigham, A.W.2
Buckingham, K.J.3
Hannibal, M.C.4
McMillin, M.J.5
Gildersleeve, H.I.6
Beck, A.E.7
Tabor, H.K.8
Cooper, G.M.9
Mefford, H.C.10
Lee, C.11
Turner, E.H.12
Smith, J.D.13
Rieder, M.J.14
Yoshiura, K.15
Matsumoto, N.16
Ohta, T.17
Niikawa, N.18
Nickerson, D.A.19
Bamshad, M.J.20
Shendure, J.21
more..
-
10
-
-
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. 1981. Kabuki make-up syndrome: A syndrome of mental retardation, unusual facies, large and protruding ears, and postnatal growth deficiency. J Pediatr 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
-
12
-
-
18044379322
-
Phenotypes Associated with SHOX Deficiency
-
Ross JL, Scott C Jr, Marttila P, Kowal K, Nass A, Papenhausen P, Abboudi J, Osterman L, Kushner H, Carter P, Ezaki M, Elder F, Wei F, Chen H, Zinn AR. 2001. Phenotypes Associated with SHOX Deficiency. J Clin Endocrinol Metab 86:5674-5680.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5674-5680
-
-
Ross, J.L.1
Scott, C.2
Marttila, P.3
Kowal, K.4
Nass, A.5
Papenhausen, P.6
Abboudi, J.7
Osterman, L.8
Kushner, H.9
Carter, P.10
Ezaki, M.11
Elder, F.12
Wei, F.13
Chen, H.14
Zinn, A.R.15
-
13
-
-
0033305248
-
Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial
-
Sas TC, Gerver WJ, de Bruin R, Stijnen T, de Muinck Keizer-Schrama SM, Cole TJ, van Teunenbroek A, Drop SL. 1999. Body proportions during long-term growth hormone treatment in girls with Turner syndrome participating in a randomized dose-response trial. J Clin Endocrinol Metab 84:4622-4628.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4622-4628
-
-
Sas, T.C.1
Gerver, W.J.2
de Bruin, R.3
Stijnen, T.4
de Muinck Keizer-Schrama, S.M.5
Cole, T.J.6
van Teunenbroek, A.7
Drop, S.L.8
-
14
-
-
11344267597
-
Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management
-
Schrander-Stumpel CT, Spruyt L, Curfs LM, Defloor T, Schrander JJ. 2005. Kabuki syndrome: Clinical data in 20 patients, literature review, and further guidelines for preventive management. Amer J Med Genet A 132A:234-243.
-
(2005)
Amer J Med Genet
, vol.132A
, pp. 234-243
-
-
Schrander-Stumpel, C.T.1
Spruyt, L.2
Curfs, L.M.3
Defloor, T.4
Schrander, J.J.5
-
15
-
-
0037100032
-
Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation
-
Shotelersuk V, Punyashthiti R, Srivuthana S, Wacharasindhu S. 2002. Kabuki syndrome: Report of six Thai children and further phenotypic and genetic delineation. Amer J Med Genet 110:384-390.
-
(2002)
Amer J Med Genet
, vol.110
, pp. 384-390
-
-
Shotelersuk, V.1
Punyashthiti, R.2
Srivuthana, S.3
Wacharasindhu, S.4
-
16
-
-
0032167812
-
Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management
-
Wilson GN. 1998. Thirteen cases of Niikawa-Kuroki syndrome: Report and review with emphasis on medical complications and preventive management. Amer J Med Genet 79:112-120.
-
(1998)
Amer J Med Genet
, vol.79
, pp. 112-120
-
-
Wilson, G.N.1
|