-
2
-
-
10744230718
-
The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females
-
Kubota T, Wakui K, Nakamura T, Ohashi H, Watanabe Y, Yoshino M, Kida T, Okamoto N, Matsumura M, Muroya K, Ogata T, Goto Y, Fukushima Y. The proportion of cells with functional X disomy is associated with the severity of mental retardation in mosaic ring X Turner syndrome females. Cytogenet Genome Res 2002; 99: 276-284.
-
(2002)
Cytogenet Genome Res
, vol.99
, pp. 276-284
-
-
Kubota, T.1
Wakui, K.2
Nakamura, T.3
Ohashi, H.4
Watanabe, Y.5
Yoshino, M.6
Kida, T.7
Okamoto, N.8
Matsumura, M.9
Muroya, K.10
Ogata, T.11
Goto, Y.12
Fukushima, Y.13
-
3
-
-
0034601124
-
Severe phenotypes associated with inactive ring X chromosomes
-
Migeon BR, Ausems M, Giltay J, Hasley-Royster C, Kazi E, Lydon TJ, Engelen JJ, Raymond GV. Severe phenotypes associated with inactive ring X chromosomes. Am J Med Genet 2000; 93: 52-57.
-
(2000)
Am J Med Genet
, vol.93
, pp. 52-57
-
-
Migeon, B.R.1
Ausems, M.2
Giltay, J.3
Hasley-Royster, C.4
Kazi, E.5
Lydon, T.J.6
Engelen, J.J.7
Raymond, G.V.8
-
4
-
-
0029026562
-
Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation
-
Jani MM, Torchia BS, Pai GS, Migeon BR. Molecular characterization of tiny ring X chromosomes from females with functional X chromosome disomy and lack of cis X inactivation. Genomics 1995; 27: 182-188.
-
(1995)
Genomics
, vol.27
, pp. 182-188
-
-
Jani, M.M.1
Torchia, B.S.2
Pai, G.S.3
Migeon, B.R.4
-
5
-
-
0027133244
-
Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes
-
Migeon BR, Luo S, Stasiowski BA, Jani M, Axelman J, Van Dyke DL, Weiss L, Jacobs PA, Yang-Feng TL, Wiley JE. Deficient transcription of XIST from tiny ring X chromosomes in females with severe phenotypes. Proc Natl Acad Sci USA 1993; 90: 12025-12029.
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 12025-12029
-
-
Migeon, B.R.1
Luo, S.2
Stasiowski, B.A.3
Jani, M.4
Axelman, J.5
Van Dyke, D.L.6
Weiss, L.7
Jacobs, P.A.8
Yang-Feng, T.L.9
Wiley, J.E.10
-
7
-
-
0025825014
-
Insulin resistance: An early metabolic defect of Turner's syndrome
-
Caprio S, Boulware S, Diamond M, Sherwin RS, Carpenter TO, Rubin K, Amiel S, Press M, Tamborlane WV. Insulin resistance: an early metabolic defect of Turner's syndrome. J Clin Endocrinol Metab. 1991; 72: 832-836.
-
(1991)
J Clin Endocrinol Metab.
, vol.72
, pp. 832-836
-
-
Caprio, S.1
Boulware, S.2
Diamond, M.3
Sherwin, R.S.4
Carpenter, T.O.5
Rubin, K.6
Amiel, S.7
Press, M.8
Tamborlane, W.V.9
-
8
-
-
0018778975
-
Turner's syndrome and carbohydrate metabolism. I. Impaired insulin secretion after tolbutamide and glucagon stimulation tests: Evidence of insulin deficiency
-
AvRuskin TW, Crigler JF Jr, Soeldner JS. Turner's syndrome and carbohydrate metabolism. I. Impaired insulin secretion after tolbutamide and glucagon stimulation tests: evidence of insulin deficiency. Am J Med Sci 1979; 277: 145-152.
-
(1979)
Am J Med Sci
, vol.277
, pp. 145-152
-
-
AvRuskin, T.W.1
Crigler Jr., J.F.2
Soeldner, J.S.3
-
9
-
-
3242710140
-
Impaired insulin secretion in the Turner metabolic syndrome
-
Bakalov VK, Cooley MM, Quon MJ, Luo ML, Yanovski JA, Nelson LM, Sullivan G, Bondy CA. Impaired insulin secretion in the Turner metabolic syndrome. J Clin Endocrinol Metab 2004; 89: 3516-3520.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 3516-3520
-
-
Bakalov, V.K.1
Cooley, M.M.2
Quon, M.J.3
Luo, M.L.4
Yanovski, J.A.5
Nelson, L.M.6
Sullivan, G.7
Bondy, C.A.8
-
10
-
-
0032941110
-
Cloning, tissue expression, and chromosomal location of the mouse insulin receptor substrate 4 gene
-
Fantin VR, Lavan BE, Wang Q, Jenkins NA, Gilbert DJ, Copeland NG, Keller SR, Lienhard GE. Cloning, tissue expression, and chromosomal location of the mouse insulin receptor substrate 4 gene. Endocrinology 1999; 140: 1329-1337.
-
(1999)
Endocrinology
, vol.140
, pp. 1329-1337
-
-
Fantin, V.R.1
Lavan, B.E.2
Wang, Q.3
Jenkins, N.A.4
Gilbert, D.J.5
Copeland, N.G.6
Keller, S.R.7
Lienhard, G.E.8
-
11
-
-
0029658241
-
Mutations in the sulphonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews
-
Nestorowicz A, Wilson BA, Schoor KP, Inoue H, Glaser B, Landau H, Stanley CA, Thornton PS, Clement JP 4th, Bryan J, Aguilar-Bryan L, Permutt MA. Mutations in the sulphonylurea receptor gene are associated with familial hyperinsulinism in Ashkenazi Jews. Hum Mol Genet 1996; 5: 1813-1822.
-
(1996)
Hum Mol Genet
, vol.5
, pp. 1813-1822
-
-
Nestorowicz, A.1
Wilson, B.A.2
Schoor, K.P.3
Inoue, H.4
Glaser, B.5
Landau, H.6
Stanley, C.A.7
Thornton, P.S.8
Clement IV, J.P.9
Bryan, J.10
Aguilar-Bryan, L.11
Permutt, M.A.12
-
12
-
-
0029021696
-
Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy
-
Thomas PM, Cote GJ, Wohllk N, Haddad B, Mathew PM, Rabl W, Aguilar-Bryan L, Gagel RF, Bryan J. Mutations in the sulfonylurea receptor gene in familial persistent hyperinsulinemic hypoglycemia of infancy. Science 1995; 268: 426-429.
-
(1995)
Science
, vol.268
, pp. 426-429
-
-
Thomas, P.M.1
Cote, G.J.2
Wohllk, N.3
Haddad, B.4
Mathew, P.M.5
Rabl, W.6
Aguilar-Bryan, L.7
Gagel, R.F.8
Bryan, J.9
-
13
-
-
0037158471
-
Facial appearance in persistent hyperinsulinemic hypoglycemia
-
de Lonlay P, Cormier-Daire V, Amiel J, Touati G, Goldenberg A, Fournet JC, Brunelle F, Nihoul-Fekete C, Rahier J, Junien C, Robert JJ, Saudubray IM. Facial appearance in persistent hyperinsulinemic hypoglycemia. Am J Med Genet 2002; 111: 130-133.
-
(2002)
Am J Med Genet
, vol.111
, pp. 130-133
-
-
de Lonlay, P.1
Cormier-Daire, V.2
Amiel, J.3
Touati, G.4
Goldenberg, A.5
Fournet, J.C.6
Brunelle, F.7
Nihoul-Fekete, C.8
Rahier, J.9
Junien, C.10
Robert, J.J.11
Saudubray, I.M.12
-
14
-
-
4444261981
-
Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13
-
Tamame T, Hori N, Homma H, Yoshida R, Inokuchi M, Kosaki K, Takahashi T, Hasegawa T. Hyperinsulinemic hypoglycemia in a newborn infant with trisomy 13. Am J Med Genet A 2004; 129: 321-322.
-
(2004)
Am J Med Genet A
, vol.129
, pp. 321-322
-
-
Tamame, T.1
Hori, N.2
Homma, H.3
Yoshida, R.4
Inokuchi, M.5
Kosaki, K.6
Takahashi, T.7
Hasegawa, T.8
-
15
-
-
0034090918
-
Hypoglycemia in Beckwith-Wiedemann syndrome
-
DeBaun MR, King AA, White N. Hypoglycemia in Beckwith-Wiedemann syndrome. Semin Perinatol 2000; 24: 164-171.
-
(2000)
Semin Perinatol
, vol.24
, pp. 164-171
-
-
DeBaun, M.R.1
King, A.A.2
White, N.3
-
16
-
-
23044498447
-
Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic β-cell adenosine triphosphate-sensitive potassium channels
-
Hussain K, Cosgrove KE, Shepherd RM, Luharia A, Smith VV, Kassem S, Gregory JW, Sivaprasadarao A, Christesen HT, Jacobsen BB, Brusgaard K, Glaser B, Maher EA, Lindley KJ, Hindmarsh P, Dattani M, Dunne MJ. Hyperinsulinemic hypoglycemia in Beckwith-Wiedemann syndrome due to defects in the function of pancreatic β-cell adenosine triphosphate-sensitive potassium channels. J Clin Endocrinol Metab 2005; 90: 4376-4382.
-
(2005)
J Clin Endocrinol Metab
, vol.90
, pp. 4376-4382
-
-
Hussain, K.1
Cosgrove, K.E.2
Shepherd, R.M.3
Luharia, A.4
Smith, V.V.5
Kassem, S.6
Gregory, J.W.7
Sivaprasadarao, A.8
Christesen, H.T.9
Jacobsen, B.B.10
Brusgaard, K.11
Glaser, B.12
Maher, E.A.13
Lindley, K.J.14
Hindmarsh, P.15
Dattani, M.16
Dunne, M.J.17
-
17
-
-
0035721309
-
Hyperinsulinaemic hypoglycaemia-leading symptom in a patient with congenital disorder of glycosylation la (phosphomannomutase deficiency)
-
Bohles H, Sewell AA, Gebhardt B, Reinecke-Luthge A, Kloppel G, Marquardt T. Hyperinsulinaemic hypoglycaemia-leading symptom in a patient with congenital disorder of glycosylation la (phosphomannomutase deficiency). J Inherit Metab Dis 2001; 24: 858-862.
-
(2001)
J Inherit Metab Dis
, vol.24
, pp. 858-862
-
-
Bohles, H.1
Sewell, A.A.2
Gebhardt, B.3
Reinecke-Luthge, A.4
Kloppel, G.5
Marquardt, T.6
-
18
-
-
0035136834
-
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: A series of 26 cases
-
de Lonlay P, Seta N, Barrot S, Chabrol B, Drouin V, Gabriel BM, Journel H, Kretz M, Laurent J, Le Merrer M, Leroy A, Pedespan D, Sarda P, Villeneuve N, Schmitz J, van Schaftingen E, Matthijs G, Jaeken J, Korner C, Munnich A, Saudubray JM, Cormier-Daire V. A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet 2001; 38: 14-19.
-
(2001)
J Med Genet
, vol.38
, pp. 14-19
-
-
de Lonlay, P.1
Seta, N.2
Barrot, S.3
Chabrol, B.4
Drouin, V.5
Gabriel, B.M.6
Journel, H.7
Kretz, M.8
Laurent, J.9
Le Merrer, M.10
Leroy, A.11
Pedespan, D.12
Sarda, P.13
Villeneuve, N.14
Schmitz, J.15
van Schaftingen, E.16
Matthijs, G.17
Jaeken, J.18
Korner, C.19
Munnich, A.20
Saudubray, J.M.21
Cormier-Daire, V.22
more..
-
19
-
-
0021229493
-
The Perlman syndrome: Familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies
-
Neri G, Martini-Neri ME, Katz BE, Opitz JM. The Perlman syndrome: familial renal dysplasia with Wilms tumor, fetal gigantism and multiple congenital anomalies. Am J Med Genet 1984; 19: 195-207.
-
(1984)
Am J Med Genet
, vol.19
, pp. 195-207
-
-
Neri, G.1
Martini-Neri, M.E.2
Katz, B.E.3
Opitz, J.M.4
-
20
-
-
12144288309
-
Paradoxical NSDI mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome
-
Baujat G, Rio M, Rossignol S, Sanlaville D, Lyonnet S, Le Merrer M, Munnich A, Gicquel C, Cormier-Daire V, Colleaux L. Paradoxical NSDI mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome. Am J Hum Genet 2004; 74: 715-720.
-
(2004)
Am J Hum Genet
, vol.74
, pp. 715-720
-
-
Baujat, G.1
Rio, M.2
Rossignol, S.3
Sanlaville, D.4
Lyonnet, S.5
Le Merrer, M.6
Munnich, A.7
Gicquel, C.8
Cormier-Daire, V.9
Colleaux, L.10
-
21
-
-
0034892682
-
Hyperinsulinism in syndromal disorders
-
Meissner T, Rabl W, Mohnike K, Scholl S, Santer R, Mayatepek E. Hyperinsulinism in syndromal disorders. Acta Paediatr 2001; 90: 856-859.
-
(2001)
Acta Paediatr
, vol.90
, pp. 856-859
-
-
Meissner, T.1
Rabl, W.2
Mohnike, K.3
Scholl, S.4
Santer, R.5
Mayatepek, E.6
-
23
-
-
0032493123
-
Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene
-
Stanley CA, Lieu YK, Hsu BY, Burlina AB, Greenberg CR, Hopwood NJ, Perlman K, Rich BH, Zammarchi E, Poncz M. Hyperinsulinism and hyperammonemia in infants with regulatory mutations of the glutamate dehydrogenase gene. N Engl J Med 1998; 338: 1352-1357.
-
(1998)
N Engl J Med
, vol.338
, pp. 1352-1357
-
-
Stanley, C.A.1
Lieu, Y.K.2
Hsu, B.Y.3
Burlina, A.B.4
Greenberg, C.R.5
Hopwood, N.J.6
Perlman, K.7
Rich, B.H.8
Zammarchi, E.9
Poncz, M.10
-
24
-
-
4544344374
-
Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor
-
Magge SN, Shyng SL, MacMullen C, Steinkrauss L, Ganguly A, Katz LE, Stanley CA. Familial leucine-sensitive hypoglycemia of infancy due to a dominant mutation of the beta-cell sulfonylurea receptor. J Clin Endocrinol Metab 2004; 89: 4450-4456.
-
(2004)
J Clin Endocrinol Metab
, vol.89
, pp. 4450-4456
-
-
Magge, S.N.1
Shyng, S.L.2
MacMullen, C.3
Steinkrauss, L.4
Ganguly, A.5
Katz, L.E.6
Stanley, C.A.7
-
25
-
-
0032913071
-
Action of insulin receptor substrate-3 (IRS-3) and IRS-4 to stimulate translocation of GLUT4 in rat adipose cells
-
Zhou L, Chen H, Xu P, Cong LN, Sciacchitano S, Li Y, Graham D, Jacobs AR, Taylor SI, Quon MJ. Action of insulin receptor substrate-3 (IRS-3) and IRS-4 to stimulate translocation of GLUT4 in rat adipose cells. Mol Endocrinol 1999; 13: 505-514.
-
(1999)
Mol Endocrinol
, vol.13
, pp. 505-514
-
-
Zhou, L.1
Chen, H.2
Xu, P.3
Cong, L.N.4
Sciacchitano, S.5
Li, Y.6
Graham, D.7
Jacobs, A.R.8
Taylor, S.I.9
Quon, M.J.10
-
26
-
-
13344261391
-
Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome
-
Pilia G, Hughes-Benzie RM, MacKenzie A, Baybayan P, Chen EY, Huber R, Neri G, Cao A, Forabosco A, Schlessinger D. Mutations in GPC3, a glypican gene, cause the Simpson-Golabi-Behmel overgrowth syndrome. Nat Genet 1996; 12: 241-247.
-
(1996)
Nat Genet
, vol.12
, pp. 241-247
-
-
Pilia, G.1
Hughes-Benzie, R.M.2
MacKenzie, A.3
Baybayan, P.4
Chen, E.Y.5
Huber, R.6
Neri, G.7
Cao, A.8
Forabosco, A.9
Schlessinger, D.10
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