-
1
-
-
0030877094
-
PHOG, a candidate gene for involvement in the short stature of turner syndrome
-
Ellison JW, Wardak Z, Young MF, Gehron Robey P, Laig-Webster M, Chiong W: PHOG, a candidate gene for involvement in the short stature of turner syndrome. Hum Mol Genet 1997; 6: 1341-1347.
-
(1997)
Hum Mol Genet
, vol.6
, pp. 1341-1347
-
-
Ellison, J.W.1
Wardak, Z.2
Young, M.F.3
Gehron Robey, P.4
Laig-Webster, M.5
Chiong, W.6
-
2
-
-
0030940217
-
Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome
-
Rao E, Weiss B, Fukami M, Rump A, Niesler B, Mertz A, Muroya K, Binder G, Kirsch S, Winkelmann M, Nordsiek G, Heinrich U, Breuning MH, Ranke MB, Rosenthal A, Ogata T, Rappold GA: Pseudoautosomal deletions encompassing a novel homeobox gene cause growth failure in idiopathic short stature and Turner syndrome. Nat Genet 1997; 16: 54-63.
-
(1997)
Nat Genet
, vol.16
, pp. 54-63
-
-
Rao, E.1
Weiss, B.2
Fukami, M.3
Rump, A.4
Niesler, B.5
Mertz, A.6
Muroya, K.7
Binder, G.8
Kirsch, S.9
Winkelmann, M.10
Nordsiek, G.11
Heinrich, U.12
Breuning, M.H.13
Ranke, M.B.14
Rosenthal, A.15
Ogata, T.16
Rappold, G.A.17
-
3
-
-
17144464108
-
The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome
-
Clement-Jones M, Schiller S, Rao E, Blaschke RJ, Zuniga A, Zeller R, Robson SC, Binder G, Glass I, Strachan T, Lindsay S, Rappold GA: The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 2000; 9: 695-702.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 695-702
-
-
Clement-Jones, M.1
Schiller, S.2
Rao, E.3
Blaschke, R.J.4
Zuniga, A.5
Zeller, R.6
Robson, S.C.7
Binder, G.8
Glass, I.9
Strachan, T.10
Lindsay, S.11
Rappold, G.A.12
-
4
-
-
26844470927
-
The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: Contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome
-
Ross JL, Kowal K, Quigley CA, Blum WF, Cutler GB Jr, Crowe B, Hovanes K, Elder FF, Zinn AR: The phenotype of short stature homeobox gene (SHOX) deficiency in childhood: Contrasting children with Leri-Weill dyschondrosteosis and Turner syndrome. J Pediatr 2005; 147: 499-507.
-
(2005)
J Pediatr
, vol.147
, pp. 499-507
-
-
Ross, J.L.1
Kowal, K.2
Quigley, C.A.3
Blum, W.F.4
Cutler Jr., G.B.5
Crowe, B.6
Hovanes, K.7
Elder, F.F.8
Zinn, A.R.9
-
5
-
-
0018250689
-
Disproportionate growth of the lower extremities. A major determinant of short stature in Turner's syndrome
-
Neufeld ND, Lippe BM, Kaplan SA: Disproportionate growth of the lower extremities. A major determinant of short stature in Turner's syndrome. Am J Dis Child 1978; 132: 296-298.
-
(1978)
Am J Dis Child
, vol.132
, pp. 296-298
-
-
Neufeld, N.D.1
Lippe, B.M.2
Kaplan, S.A.3
-
6
-
-
0027198394
-
Body proportions in individuals with Turner syndrome The Dutch growth hormone working group
-
Rongen-Westerlaken C, Rikken B, Vastrick P, Jeuken AH, de Lange MY, Wit JM, van der Tweel L, Van den Brande JL: Body proportions in individuals with Turner syndrome. The Dutch growth hormone working group. Eur J Pediatr 1993; 152: 813-817.
-
(1993)
Eur J Pediatr
, vol.152
, pp. 813-817
-
-
Rongen-Westerlaken, C.1
Rikken, B.2
Vastrick, P.3
Jeuken, A.H.4
De Lange, M.Y.5
Wit, J.M.6
Van Der Tweel, L.7
Van Den Brande, J.L.8
-
7
-
-
0030782767
-
Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome
-
Gravholt CH, Weis Naeraa R: Reference values for body proportions and body composition in adult women with Ullrich-Turner syndrome. Am J Med Genet 1997; 72: 403-408.
-
(1997)
Am J Med Genet
, vol.72
, pp. 403-408
-
-
Gravholt, C.H.1
Weis Naeraa, R.2
-
8
-
-
33646445236
-
Body proportions in a group of Brazilian patients with Turner syndrome
-
Baldin AD, Armani MC, Morcillo AM, Lemos-Marini SH, Baptista MT, Maciel-Guerra AT, Guerra-Junior G: Body proportions in a group of Brazilian patients with Turner syndrome. Arq Bras Endocrinol Metabol 2005; 49: 529-535.
-
(2005)
Arq Bras Endocrinol Metabol
, vol.49
, pp. 529-535
-
-
Baldin, A.D.1
Armani, M.C.2
Morcillo, A.M.3
Lemos-Marini, S.H.4
Baptista, M.T.5
Maciel-Guerra, A.T.6
Guerra-Junior, G.7
-
9
-
-
78650410581
-
Short stature caused by isolated SHOX gene haploinsufficiency: Update on the diagnosis and treatment
-
Jorge AA, Funari MF, Nishi MY, Mendonca BB: Short stature caused by isolated SHOX gene haploinsufficiency: Update on the diagnosis and treatment. Pediatr Endocrinol Rev 2010; 8: 79-85.
-
(2010)
Pediatr Endocrinol Rev
, vol.8
, pp. 79-85
-
-
Jorge, A.A.1
Funari, M.F.2
Nishi, M.Y.3
Mendonca, B.B.4
-
10
-
-
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: Phenotypes associated with SHOX deficiency. J Clin Endocrinol Metab 2001; 86: 5674-5680.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5674-5680
-
-
Ross, J.L.1
Scott Jr., 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
-
11
-
-
0242351788
-
Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in schoolage children with unexplained short stature
-
Binder G, Ranke MB, Martin DD: Auxology is a valuable instrument for the clinical diagnosis of SHOX haploinsufficiency in schoolage children with unexplained short stature. J Clin Endocrinol Metab 2003; 88: 4891-4896.
-
(2003)
J Clin Endocrinol Metab
, vol.88
, pp. 4891-4896
-
-
Binder, G.1
Ranke, M.B.2
Martin, D.D.3
-
12
-
-
34248379653
-
Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency
-
Rappold G, Blum WF, Shavrikova EP, Crowe BJ, Roeth R, Quigley CA, Ross JL, Niesler B: Genotypes and phenotypes in children with short stature: Clinical indicators of SHOX haploinsufficiency. J Med Genet 2007; 44: 306-313.
-
(2007)
J Med Genet
, vol.44
, pp. 306-313
-
-
Rappold, G.1
Blum, W.F.2
Shavrikova, E.P.3
Crowe, B.J.4
Roeth, R.5
Quigley, C.A.6
Ross, J.L.7
Niesler, B.8
-
13
-
-
33845662367
-
SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: Frequency and phenotypic variability
-
Jorge AA, Souza SC, Nishi MY, Billerbeck AE, Liborio DC, Kim CA, Arnhold IJ, Mendonca BB: SHOX mutations in idiopathic short stature and Leri-Weill dyschondrosteosis: Frequency and phenotypic variability. Clin Endocrinol (Oxf) 2007; 66: 130-135.
-
(2007)
Clin Endocrinol (Oxf)
, vol.66
, pp. 130-135
-
-
Jorge, A.A.1
Souza, S.C.2
Nishi, M.Y.3
Billerbeck, A.E.4
Liborio, D.C.5
Kim, C.A.6
Arnhold, I.J.7
Mendonca, B.B.8
-
14
-
-
81455158397
-
SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis
-
Hirschfeldova K, Solc R, Baxova A, Zapletalova J, Kebrdlova V, Gaillyova R, Prasilova S, Soukalova J, Mihalova R, Lnenicka P, Florianova M, Stekrova J: SHOX gene defects and selected dysmorphic signs in patients of idiopathic short stature and Leri-Weill dyschondrosteosis. Gene 2012; 491: 123-127.
-
(2012)
Gene
, vol.491
, pp. 123-127
-
-
Hirschfeldova, K.1
Solc, R.2
Baxova, A.3
Zapletalova, J.4
Kebrdlova, V.5
Gaillyova, R.6
Prasilova, S.7
Soukalova, J.8
Mihalova, R.9
Lnenicka, P.10
Florianova, M.11
Stekrova, J.12
-
15
-
-
84877127002
-
Phenotypic characterization of patients with deletions in the 3 ′ flanking SHOX region
-
Kant SG, Broekman SJ, de Wit CC, Bos M, Scheltinga SA, Bakker E, Oostdijk W, van der Kamp HJ, van Zwet EW, van der Hout AH, Wit JM, Losekoot M: Phenotypic characterization of patients with deletions in the 3 ′ -flanking SHOX region. PeerJ 2013; 1:e35.
-
(2013)
PeerJ
, vol.1
-
-
Kant, S.G.1
Broekman, S.J.2
De Wit, C.C.3
Bos, M.4
Scheltinga, S.A.5
Bakker, E.6
Oostdijk, W.7
Van Der Kamp, H.J.8
Van Zwet, E.W.9
Van Der Hout, A.H.10
Wit, J.M.11
Losekoot, M.12
-
16
-
-
23144440203
-
Nationwide age references for sitting height, leg length, and sitting height/ height ratio, and their diagnostic value for disproportionate growth disorders
-
Fredriks AM, van Buuren S, van Heel WJ, Dijkman-Neerincx RH, Verloove-Vanhorick SP, Wit JM: Nationwide age references for sitting height, leg length, and sitting height/ height ratio, and their diagnostic value for disproportionate growth disorders. Arch Dis Child 2005; 90: 807-812.
-
(2005)
Arch Dis Child
, vol.90
, pp. 807-812
-
-
Fredriks, A.M.1
Van Buuren, S.2
Van Heel, W.J.3
Dijkman-Neerincx, R.H.4
Verloove-Vanhorick, S.P.5
Wit, J.M.6
-
17
-
-
0034621779
-
CDC growth charts: United States
-
Kuczmarski RJ, Ogden CL, Grummer-Strawn LM, Flegal KM, Guo SS, Wei R, Mei Z, Curtin LR, Roche AF, Johnson CL: CDC growth charts: United States. Adv Data 2000; 314: 1-27.
-
(2000)
Adv Data
, vol.314
, pp. 1-27
-
-
Kuczmarski, R.J.1
Ogden, C.L.2
Grummer-Strawn, L.M.3
Flegal, K.M.4
Guo, S.S.5
Wei, R.6
Mei, Z.7
Curtin, L.R.8
Roche, A.F.9
Johnson, C.L.10
-
18
-
-
77951571806
-
Comparison between the growth of Brazilian children and adolescents and the reference growth charts: Data from a Brazilian project
-
Silva DA, Pelegrini A, Petroski EL, Gaya AC: Comparison between the growth of Brazilian children and adolescents and the reference growth charts: Data from a Brazilian project. J Pediatr (Rio J) 2010; 86: 115-120.
-
(2010)
J Pediatr (Rio J)
, vol.86
, pp. 115-120
-
-
Silva, D.A.1
Pelegrini, A.2
Petroski, E.L.3
Gaya, A.C.4
-
19
-
-
77956937780
-
Usefulness of MLPA in the detection of SHOX deletions
-
Funari MF, Jorge AA, Souza SC, Billerbeck AE, Arnhold IJ, Mendonca BB, Nishi MY: Usefulness of MLPA in the detection of SHOX deletions. Eur J Med Genet 2010; 53: 234-238.
-
(2010)
Eur J Med Genet
, vol.53
, pp. 234-238
-
-
Funari, M.F.1
Jorge, A.A.2
Souza, S.C.3
Billerbeck, A.E.4
Arnhold, I.J.5
Mendonca, B.B.6
Nishi, M.Y.7
-
20
-
-
77957947562
-
Hundreds of variants clustered in genomic loci and biological pathways affect human height
-
Lango Allen H, Estrada K, Lettre G, Berndt SI, Weedon MN, Rivadeneira F, Willer CJ, Jackson AU, Vedantam S, Raychaudhuri S, Ferreira T, Wood AR, Weyant RJ, Segre AV, Speliotes EK, Wheeler E, Soranzo N, Park JH, Yang J, Gudbjartsson D, Heard-Costa NL, Randall JC, Qi L, Vernon Smith A, Magi R, Pastinen T, Liang L, Heid IM, Luan J, Thorleifsson G, Winkler TW, Goddard ME, Sin Lo K, Palmer C, Workalemahu T, Aulchenko YS, Johansson A, Zillikens MC, Feitosa MF, Esko T, Johnson T, Ketkar S, Kraft P, Mangino M, Prokopenko I, Absher D, Albrecht E, Ernst F, Glazer NL, Hayward C, Hottenga JJ, Jacobs KB, Knowles JW, Kutalik Z, Monda KL, Hirschhorn JN: Hundreds of variants clustered in genomic loci and biological pathways affect human height. Nature 2010; 467: 832-838.
-
(2010)
Nature
, vol.467
, pp. 832-838
-
-
Lango Allen, H.1
Estrada, K.2
Lettre, G.3
Berndt, S.I.4
Weedon, M.N.5
Rivadeneira, F.6
Willer, C.J.7
Jackson, A.U.8
Vedantam, S.9
Raychaudhuri, S.10
Ferreira, T.11
Wood, A.R.12
Weyant, R.J.13
Segre, A.V.14
Speliotes, E.K.15
Wheeler, E.16
Soranzo, N.17
Park, J.H.18
Yang, J.19
Gudbjartsson, D.20
Heard-Costa, N.L.21
Randall, J.C.22
Qi, L.23
Vernon Smith, A.24
Magi, R.25
Pastinen, T.26
Liang, L.27
Heid, I.M.28
Luan, J.29
Thorleifsson, G.30
Winkler, T.W.31
Goddard, M.E.32
Sin Lo, K.33
Palmer, C.34
Workalemahu, T.35
Aulchenko, Y.S.36
Johansson, A.37
Zillikens, M.C.38
Feitosa, M.F.39
Esko, T.40
Johnson, T.41
Ketkar, S.42
Kraft, P.43
Mangino, M.44
Prokopenko, I.45
Absher, D.46
Albrecht, E.47
Ernst, F.48
Glazer, N.L.49
Hayward, C.50
Hottenga, J.J.51
Jacobs, K.B.52
Knowles, J.W.53
Kutalik, Z.54
Monda, K.L.55
Hirschhorn, J.N.56
more..
-
21
-
-
0031747158
-
Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis
-
Shears DJ, Vassal HJ, Goodman FR, Palmer RW, Reardon W, Superti-Furga A, Scambler PJ, Winter RM: Mutation and deletion of the pseudoautosomal gene SHOX cause Leri-Weill dyschondrosteosis. Nat Genet 1998; 19: 70-73.
-
(1998)
Nat Genet
, vol.19
, pp. 70-73
-
-
Shears, D.J.1
Vassal, H.J.2
Goodman, F.R.3
Palmer, R.W.4
Reardon, W.5
Superti-Furga, A.6
Scambler, P.J.7
Winter, R.M.8
-
22
-
-
17344363774
-
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome)
-
Belin V, Cusin V, Viot G, Girlich D, Toutain A, Moncla A, Vekemans M, Le Merrer M, Munnich A, Cormier-Daire V: SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet 1998; 19: 67-69.
-
(1998)
Nat Genet
, vol.19
, pp. 67-69
-
-
Belin, V.1
Cusin, V.2
Viot, G.3
Girlich, D.4
Toutain, A.5
Moncla, A.6
Vekemans, M.7
Le Merrer, M.8
Munnich, A.9
Cormier-Daire, V.10
-
23
-
-
0036963699
-
Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature
-
Rappold GA, Fukami M, Niesler B, Schiller S, Zumkeller W, Bettendorf M, Heinrich U, Vlachopapadoupoulou E, Reinehr T, Onigata K, Ogata T: Deletions of the homeobox gene SHOX (short stature homeobox) are an important cause of growth failure in children with short stature. J Clin Endocrinol Metab 2002; 87: 1402-1406.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1402-1406
-
-
Rappold, G.A.1
Fukami, M.2
Niesler, B.3
Schiller, S.4
Zumkeller, W.5
Bettendorf, M.6
Heinrich, U.7
Vlachopapadoupoulou, E.8
Reinehr, T.9
Onigata, K.10
Ogata, T.11
-
24
-
-
35448939203
-
Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature
-
author reply e91
-
Jorge AA, Arnhold IJ: Anthropometric evaluation of children with SHOX mutations can be used as indication for genetic studies in children of short stature. J Med Genet 2007; 44:e90, author reply e91.
-
(2007)
J Med Genet
, vol.44
-
-
Jorge, A.A.1
Arnhold, I.J.2
-
25
-
-
0033305653
-
Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of turner syndrome
-
Kosho T, Muroya K, Nagai T, Fujimoto M, Yokoya S, Sakamoto H, Hirano T, Terasaki H, Ohashi H, Nishimura G, Sato S, Matsuo N, Ogata T: Skeletal features and growth patterns in 14 patients with haploinsufficiency of SHOX: Implications for the development of turner syndrome. J Clin Endocrinol Metab 1999; 84: 4613-4621.
-
(1999)
J Clin Endocrinol Metab
, vol.84
, pp. 4613-4621
-
-
Kosho, T.1
Muroya, K.2
Nagai, T.3
Fujimoto, M.4
Yokoya, S.5
Sakamoto, H.6
Hirano, T.7
Terasaki, H.8
Ohashi, H.9
Nishimura, G.10
Sato, S.11
Matsuo, N.12
Ogata, T.13
-
26
-
-
2442641275
-
Statural growth in 31 Japanese patients with SHOX haploinsufficiency: Support for a disadvantageous effect of gonadal estrogens
-
Fukami M, Nishi Y, Hasegawa Y, Miyoshi Y, Okabe T, Haga N, Nagai T, Tanaka T, Ogata T: Statural growth in 31 Japanese patients with SHOX haploinsufficiency: Support for a disadvantageous effect of gonadal estrogens. Endocr J 2004; 51: 197-200.
-
(2004)
Endocr J
, vol.51
, pp. 197-200
-
-
Fukami, M.1
Nishi, Y.2
Hasegawa, Y.3
Miyoshi, Y.4
Okabe, T.5
Haga, N.6
Nagai, T.7
Tanaka, T.8
Ogata, T.9
-
27
-
-
59749086990
-
Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome
-
Blum WF, Cao D, Hesse V, Fricke-Otto S, Ross JL, Jones C, Quigley CA, Binder G: Height gains in response to growth hormone treatment to final height are similar in patients with SHOX deficiency and Turner syndrome. Horm Res 2009; 71: 167-172.
-
(2009)
Horm Res
, vol.71
, pp. 167-172
-
-
Blum, W.F.1
Cao, D.2
Hesse, V.3
Fricke-Otto, S.4
Ross, J.L.5
Jones, C.6
Quigley, C.A.7
Binder, G.8
-
28
-
-
75149185822
-
Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency
-
Scalco RC, Melo SS, Pugliese-Pires PN, Funari MF, Nishi MY, Arnhold IJ, Mendonca BB, Jorge AA: Effectiveness of the combined recombinant human growth hormone and gonadotropin-releasing hormone analog therapy in pubertal patients with short stature due to SHOX deficiency. J Clin Endocrinol Metab 2010; 95: 328-332.
-
(2010)
J Clin Endocrinol Metab
, vol.95
, pp. 328-332
-
-
Scalco, R.C.1
Melo, S.S.2
Pugliese-Pires, P.N.3
Funari, M.F.4
Nishi, M.Y.5
Arnhold, I.J.6
Mendonca, B.B.7
Jorge, A.A.8
|