-
2
-
-
0023133725
-
Noonan syndrome
-
Allanson JE (1987) Noonan syndrome. J Med Genet 24: 9-13.
-
(1987)
J Med Genet
, vol.24
, pp. 9-13
-
-
Allanson, J.E.1
-
3
-
-
18344385476
-
Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome
-
Tartaglia M, Mehler EL, Goldberg R, Zampino G, Brunner HG, Kremer H, van der Burgt I, Crosby AH, Ion A, Jeffery S, Kalidas K, Patton MA, Kucherlapati RS, Gelb BD (2001) Mutations in PTPN11, encoding the protein tyrosine phosphatase SHP-2, cause Noonan syndrome. Nat Genet 29: 465-468.
-
(2001)
Nat Genet
, vol.29
, 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 Burgt, 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
-
4
-
-
18344370436
-
PTPN11 Mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity
-
Tartaglia M, Kalidas K, Shaw A, Song X, Musat DL, van Der Burgt I, Brunner HG, Bertola DR, Crosby A, Ion A, Kucherlapati RS, Jeffery S, Patton MA, Gelb BD (2002) PTPN11 Mutations in Noonan syndrome: Molecular spectrum, genotype-phenotype correlation, and phenotypic heterogeneity. Am J Hum Genet 70: 1555-1563.
-
(2002)
Am J Hum Genet
, vol.70
, pp. 1555-1563
-
-
Tartaglia, M.1
Kalidas, K.2
Shaw, A.3
Song, X.4
Musat, D.L.5
Van Der Burgt, I.6
Brunner, H.G.7
Bertola, D.R.8
Crosby, A.9
Ion, A.10
Kucherlapati, R.S.11
Jeffery, S.12
Patton, M.A.13
Gelb, B.D.14
-
5
-
-
18544388673
-
PTPN11 (protein-tyrosine phosphatase, non-receptor-type 11) mutations in seven Japanese patients with Noonan syndrome
-
Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Mastuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T (2002) PTPN11 (protein-tyrosine phosphatase, non-receptor-type 11) mutations in seven Japanese patients with Noonan syndrome. J Clin Endocrinol Metab 87: 3529-3533.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 3529-3533
-
-
Kosaki, K.1
Suzuki, T.2
Muroya, K.3
Hasegawa, T.4
Sato, S.5
Mastuo, N.6
Kosaki, R.7
Nagai, T.8
Hasegawa, Y.9
Ogata, T.10
-
6
-
-
0033604644
-
Shp-2 tyrosine phosphatase: Signaling one cell or many
-
Feng G (1999) Shp-2 tyrosine phosphatase: Signaling one cell or many. Exp Cell Res 253: 47-54.
-
(1999)
Exp Cell Res
, vol.253
, pp. 47-54
-
-
Feng, G.1
-
7
-
-
0023229575
-
Lymphedema in Noonan syndrome: Clues to pathogenesis and prenatal diagnosis and review of the literature
-
Witt DR, Hoyme HE, Zonana J, Manchester DK, Fryns JP, Stevenson JG, Curry CJ, Hall JG (1987) Lymphedema in Noonan syndrome: clues to pathogenesis and prenatal diagnosis and review of the literature. Am J Med Genet 7: 841-856.
-
(1987)
Am J Med Genet
, vol.7
, pp. 841-856
-
-
Witt, D.R.1
Hoyme, H.E.2
Zonana, J.3
Manchester, D.K.4
Fryns, J.P.5
Stevenson, J.G.6
Curry, C.J.7
Hall, J.G.8
-
9
-
-
0033305653
-
Skeletal features and growth patterns in 14 patients with haplo-insufficiency 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 (1999) Skeletal features and growth patterns in 14 patients with haplo-insufficiency of SHOX: implications for the development of Turner syndrome. J Clin Endocrinol Metab 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
-
10
-
-
0035185582
-
Turner syndrome and Xp deletions: Clinical and molecular studies in 47 patients
-
Ogata T, Muroya K, Matsuo N, Shinohara O, Yorifuji T, Nishi Y, Hasegawa Y, Horikawa R, Tachibana K (2001) Turner syndrome and Xp deletions: clinical and molecular studies in 47 patients. J Clin Endocrinol Metab 86: 5498-5508.
-
(2001)
J Clin Endocrinol Metab
, vol.86
, pp. 5498-5508
-
-
Ogata, T.1
Muroya, K.2
Matsuo, N.3
Shinohara, O.4
Yorifuji, T.5
Nishi, Y.6
Hasegawa, Y.7
Horikawa, R.8
Tachibana, K.9
-
11
-
-
0034931841
-
Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX
-
Ogata T, Onigata K, Hotsubo T, Matsuo N, Rappold GA (2001) Growth hormone and gonadotropin-releasing hormone analog therapy in haploinsufficiency of SHOX. Endocr J 48: 317-322.
-
(2001)
Endocr J
, vol.48
, pp. 317-322
-
-
Ogata, T.1
Onigata, K.2
Hotsubo, T.3
Matsuo, N.4
Rappold, G.A.5
-
12
-
-
0036963697
-
SHOX nullizygosity and haplo-insufficiency in a Japanese family: Implication for the development of Turner skeletal features
-
Ogata T, Muroya K, Sasaki G, Nishimura G, Kitoh H, Hattori T (2002) SHOX nullizygosity and haplo-insufficiency in a Japanese family: implication for the development of Turner skeletal features. J Clin Endocrinol Metab 87: 1390-1394.
-
(2002)
J Clin Endocrinol Metab
, vol.87
, pp. 1390-1394
-
-
Ogata, T.1
Muroya, K.2
Sasaki, G.3
Nishimura, G.4
Kitoh, H.5
Hattori, T.6
-
13
-
-
0027368288
-
Cardiologic abnormalities in Noonan syndrome: Phenotypic diagnosis and echocardiographic assessment of 118 patients
-
Burch M, Sharland M, Shineboume E, Smith G, Patton M, McKenna W (1993) Cardiologic abnormalities in Noonan syndrome: phenotypic diagnosis and echocardiographic assessment of 118 patients. J Am Coll Cardiol 22: 1189-1192.
-
(1993)
J Am Coll Cardiol
, vol.22
, pp. 1189-1192
-
-
Burch, M.1
Sharland, M.2
Shineboume, E.3
Smith, G.4
Patton, M.5
McKenna, W.6
-
14
-
-
0029021639
-
Turner syndrome and female sex chromosome aberrations: Deduction of the principal factors involved in the development of clinical features
-
Ogata T, Matsuo N (1995) Turner syndrome and female sex chromosome aberrations: deduction of the principal factors involved in the development of clinical features. Hum Genet 95: 607-629.
-
(1995)
Hum Genet
, vol.95
, pp. 607-629
-
-
Ogata, T.1
Matsuo, N.2
-
15
-
-
0023881942
-
Coarctation of the aorta in Turner syndrome: A pathologic study of fetuses with nuchal cystic hygroma, hydrops fetalis, and female genitalia
-
Larco RV, Jones KL, Benirschke K (1988) Coarctation of the aorta in Turner syndrome: a pathologic study of fetuses with nuchal cystic hygroma, hydrops fetalis, and female genitalia. Pediatrics 81: 445-451.
-
(1988)
Pediatrics
, vol.81
, pp. 445-451
-
-
Larco, R.V.1
Jones, K.L.2
Benirschke, K.3
-
17
-
-
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 (2000) The short stature homeobox gene SHOX is involved in skeletal abnormalities in Turner syndrome. Hum Mol Genet 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
-
18
-
-
0036305102
-
SHOX haploinsufficiency: Lessons from clinical studies
-
Ogata T (2002) SHOX haploinsufficiency: lessons from clinical studies. Curr Opin Endocrinol Diabetes 9: 13-20.
-
(2002)
Curr Opin Endocrinol Diabetes
, vol.9
, pp. 13-20
-
-
Ogata, T.1
-
19
-
-
0002301166
-
Primary ovarian failure
-
Kaplan SA (ed). WB Saunders, Philadelphia
-
Lippe BM (1990) Primary ovarian failure. In: Kaplan SA (ed) Clinical Pediatric Endocrinology. WB Saunders, Philadelphia, 325-366.
-
(1990)
Clinical Pediatric Endocrinology
, pp. 325-366
-
-
Lippe, B.M.1
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