-
3
-
-
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 27:841-856
-
(1987)
Am J Med Genet
, vol.27
, 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
-
4
-
-
0030712155
-
Occurrence of myeloproliferative disorder in patients with Noonan syndrome
-
Bader-Meunier B, Tchernia G, Mielot F, Fontaine JL, Thomas C, Lyonnet S, Lavergne JM, Dommergues JP 1997 Occurrence of myeloproliferative disorder in patients with Noonan syndrome. J Pediatr 130:885-889
-
(1997)
J Pediatr
, vol.130
, pp. 885-889
-
-
Bader-Meunier, B.1
Tchernia, G.2
Mielot, F.3
Fontaine, J.L.4
Thomas, C.5
Lyonnet, S.6
Lavergne, J.M.7
Dommergues, J.P.8
-
5
-
-
0031086478
-
Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome
-
Fukuda M, Horibe K, Miyajima Y, Matsumoto K, Nagashima M 1997 Spontaneous remission of juvenile chronic myelomonocytic leukemia in an infant with Noonan syndrome. J Pediatr Hematol Oncol 19:177-179
-
(1997)
J Pediatr Hematol Oncol
, vol.19
, pp. 177-179
-
-
Fukuda, M.1
Horibe, K.2
Miyajima, Y.3
Matsumoto, K.4
Nagashima, M.5
-
6
-
-
0033504544
-
Juvenile myelomonocytic leukemia and Noonan syndrome
-
Choong K, Freedman MH, Chitayat D, Kelly EN, Taylor G, Zipursky A 1999 Juvenile myelomonocytic leukemia and Noonan syndrome. J Pediatr Hematol Oncol 21:523-527
-
(1999)
J Pediatr Hematol Oncol
, vol.21
, pp. 523-527
-
-
Choong, K.1
Freedman, M.H.2
Chitayat, D.3
Kelly, E.N.4
Taylor, G.5
Zipursky, A.6
-
7
-
-
0036900571
-
Transient abnormal myelopoiesis in Noonan syndrome
-
Silvio F, Carlo L, Elena B, Nicoletta B, Daniela F, Roberto M 2002 Transient abnormal myelopoiesis in Noonan syndrome. J Pediatr Hematol Oncol 24:763-764
-
(2002)
J Pediatr Hematol Oncol
, vol.24
, pp. 763-764
-
-
Silvio, F.1
Carlo, L.2
Elena, B.3
Nicoletta, B.4
Daniela, F.5
Roberto, M.6
-
8
-
-
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
-
9
-
-
0027531954
-
A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains
-
Ahmad S, Banville D, Zhao Z, Fischer EH, Shen SH 1993 A widely expressed human protein-tyrosine phosphatase containing src homology 2 domains. Proc Natl Acad Sci USA 90:2197-2201
-
(1993)
Proc Natl Acad Sci USA
, vol.90
, pp. 2197-2201
-
-
Ahmad, S.1
Banville, D.2
Zhao, Z.3
Fischer, E.H.4
Shen, S.H.5
-
10
-
-
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
-
11
-
-
0032548830
-
Crystal structure of the tyrosine phosphatase SHP-2
-
Hof P, Pluskey S, Dhe-Paganon S, Eck MJ, Shoelson SE 1998 Crystal structure of the tyrosine phosphatase SHP-2. Cell 92:441-450
-
(1998)
Cell
, vol.92
, pp. 441-450
-
-
Hof, P.1
Pluskey, S.2
Dhe-Paganon, S.3
Eck, M.J.4
Shoelson, S.E.5
-
12
-
-
0038278866
-
Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia
-
Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hahlen K, Hasle H, Licht JD, Gelb BD 2003 Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia. Nat Genet 34:148-150
-
(2003)
Nat Genet
, vol.34
, pp. 148-150
-
-
Tartaglia, M.1
Niemeyer, C.M.2
Fragale, A.3
Song, X.4
Buechner, J.5
Jung, A.6
Hahlen, K.7
Hasle, H.8
Licht, J.D.9
Gelb, B.D.10
-
13
-
-
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
-
14
-
-
18544388673
-
PTPN11 (protein-tyrosine phosphatase, nonreceptor-type 11) mutations in seven Japanese patients with Noonan syndrome
-
Kosaki K, Suzuki T, Muroya K, Hasegawa T, Sato S, Matsuo N, Kosaki R, Nagai T, Hasegawa Y, Ogata T 2002 PTPN11 (protein-tyrosine phosphatase, nonreceptor-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
Matsuo, N.6
Kosaki, R.7
Nagai, T.8
Hasegawa, Y.9
Ogata, T.10
-
15
-
-
18644381881
-
PTPN11 mutations in Noonan syndrome type I: Detection of recurrent mutations in exons 3 and 13
-
Maheshwari M, Belmont J, Fernbach S, Ho T, Molinari L, Yakub I, Yu F, Combes A, Towbin J, Craigen WJ, Gibbs R 2002 PTPN11 mutations in Noonan syndrome type I: detection of recurrent mutations in exons 3 and 13. Hum Mut 20:298-304
-
(2002)
Hum Mut
, vol.20
, pp. 298-304
-
-
Maheshwari, M.1
Belmont, J.2
Fernbach, S.3
Ho, T.4
Molinari, L.5
Yakub, I.6
Yu, F.7
Combes, A.8
Towbin, J.9
Craigen, W.J.10
Gibbs, R.11
-
16
-
-
0037300995
-
Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome
-
Musante L, Kehl HG, Majewski F, Meinecke P, Schweiger S, Gillessen-Kaesbach G, Wieczorek D, Hinkel GK, Tinschert S, Hoeltzenbein M, Ropers HH, Kalscheuer VM 2002 Spectrum of mutations in PTPN11 and genotype-phenotype correlation in 96 patients with Noonan syndrome and five patients with cardio-facio-cutaneous syndrome. Eur J Hum Genet 11:201-206
-
(2002)
Eur J Hum Genet
, vol.11
, pp. 201-206
-
-
Musante, L.1
Kehl, H.G.2
Majewski, F.3
Meinecke, P.4
Schweiger, S.5
Gillessen-Kaesbach, G.6
Wieczorek, D.7
Hinkel, G.K.8
Tinschert, S.9
Hoeltzenbein, M.10
Ropers, H.H.11
Kalscheuer, V.M.12
-
17
-
-
0037262040
-
PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning
-
Schollen E, Matthijs G, Gewillig M, Fryns JP, Legius E 2003 PTPN11 mutation in a large family with Noonan syndrome and dizygous twinning. Eur J Hum Genet 11:85-88
-
(2003)
Eur J Hum Genet
, vol.11
, pp. 85-88
-
-
Schollen, E.1
Matthijs, G.2
Gewillig, M.3
Fryns, J.P.4
Legius, E.5
-
18
-
-
0042329925
-
Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes
-
Sarkozy A, Conti E, Seripa D, Digilio MC, Grifone N, Tandoi C, Fazio VM, Di Ciommo V, Marino B, Pizzuti A, Dallapiccola B 2003 Correlation between PTPN11 gene mutations and congenital heart defects in Noonan and LEOPARD syndromes. J Med Genet 40:704-708
-
(2003)
J Med Genet
, vol.40
, pp. 704-708
-
-
Sarkozy, A.1
Conti, E.2
Seripa, D.3
Digilio, M.C.4
Grifone, N.5
Tandoi, C.6
Fazio, V.M.7
Di Ciommo, V.8
Marino, B.9
Pizzuti, A.10
Dallapiccola, B.11
-
19
-
-
3042724659
-
A 3 bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia
-
in press
-
Yoshida R, Miyata M, Nagai T, Yamazaki T, Ogata T, A 3 bp deletion mutation of PTPN11 in an infant with severe Noonan syndrome including hydrops fetalis and juvenile myelomonocytic leukemia. Am J Med Genet, in press
-
Am J Med Genet
-
-
Yoshida, R.1
Miyata, M.2
Nagai, T.3
Yamazaki, T.4
Ogata, T.5
-
20
-
-
0028127042
-
Clinical and molecular studies in a large Dutch family with Noonan syndrome
-
van der Burgt I, Berends E, Lommen E, van Beersum S, Hamel B, Mariman E 1994 Clinical and molecular studies in a large Dutch family with Noonan syndrome. Am J Med Genet 53:187-191
-
(1994)
Am J Med Genet
, vol.53
, pp. 187-191
-
-
Van Der Burgt, I.1
Berends, E.2
Lommen, E.3
Van Beersum, S.4
Hamel, B.5
Mariman, E.6
-
21
-
-
0003145436
-
Longitudinal standards for height and height velocity for Japanese children from birth to maturity
-
Suwa S, Tachibana K, Maesaka H, Tanaka T, Yokoya S 1992 Longitudinal standards for height and height velocity for Japanese children from birth to maturity. Clin Pediatr Endocrinol 1:5-14
-
(1992)
Clin Pediatr Endocrinol
, vol.1
, pp. 5-14
-
-
Suwa, S.1
Tachibana, K.2
Maesaka, H.3
Tanaka, T.4
Yokoya, S.5
-
22
-
-
66249119946
-
Target height and target range for the Japanese: Revisited
-
Sapporo, Japan, Abstract O-32
-
Kagami M, Tanaka T, Ogata T, Target height and target range for the Japanese: revisited. Proc of the 37th Annual Meeting of the Japanese Society for Pediatric Endocrinology, Sapporo, Japan, 2003, p 99 (Abstract O-32)
-
(2003)
Proc of the 37th Annual Meeting of the Japanese Society for Pediatric Endocrinology
, pp. 99
-
-
Kagami, M.1
Tanaka, T.2
Ogata, T.3
-
23
-
-
0037325661
-
A pediatric approach to the WHO classification of myelodys-plastic and myeloproliferative diseases
-
Hasle H, Niemeyer CM, Chessells JM, Baumann I, Bennett JM, Kerndrup G, Head DR 2003 A pediatric approach to the WHO classification of myelodys-plastic and myeloproliferative diseases. Leukemia 17:277-282
-
(2003)
Leukemia
, vol.17
, pp. 277-282
-
-
Hasle, H.1
Niemeyer, C.M.2
Chessells, J.M.3
Baumann, I.4
Bennett, J.M.5
Kerndrup, G.6
Head, D.R.7
-
24
-
-
0000438293
-
Serum LH and FSH levels during GnRH tests and sleep in children
-
in Japanese
-
Ito J, Tanaka T, Horikawa R, Okada Y, Morita S, Koitaji M, Tanae A, Hibi I 1993 Serum LH and FSH levels during GnRH tests and sleep in children. J Jpn Pediatr Soc 97:1789-1796 (in Japanese)
-
(1993)
J Jpn Pediatr Soc
, vol.97
, pp. 1789-1796
-
-
Ito, J.1
Tanaka, T.2
Horikawa, R.3
Okada, Y.4
Morita, S.5
Koitaji, M.6
Tanae, A.7
Hibi, I.8
-
25
-
-
0036074033
-
Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
-
Digilio MC, Conti E, Sarkozy A, Mingarelli R, Dottorini T, Marino B, Pizzuti A, Dallapiccola B 2002 Grouping of multiple-lentigines/LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet 71:389-394
-
(2002)
Am J Hum Genet
, vol.71
, pp. 389-394
-
-
Digilio, M.C.1
Conti, E.2
Sarkozy, A.3
Mingarelli, R.4
Dottorini, T.5
Marino, B.6
Pizzuti, A.7
Dallapiccola, B.8
-
26
-
-
0036340975
-
PTPN11 mutations in LEOPARD syndrome
-
Legius E, Schrander-Stumpel C, Schollen E, Pulles-Heintzberger C, Gewillig M, Fryns JP 2002 PTPN11 mutations in LEOPARD syndrome. J Med Genet 39:571-574
-
(2002)
J Med Genet
, vol.39
, pp. 571-574
-
-
Legius, E.1
Schrander-Stumpel, C.2
Schollen, E.3
Pulles-Heintzberger, C.4
Gewillig, M.5
Fryns, J.P.6
-
27
-
-
0024238928
-
Noonan syndrome: Growth and clinical manifestations in 144 cases
-
Ranke MB, Heidemann P, Knupfer C, Enders H, Schmaltz AA, Bierich JR 1988 Noonan syndrome: growth and clinical manifestations in 144 cases. Eur J Pediatr 148:220-227
-
(1988)
Eur J Pediatr
, vol.148
, pp. 220-227
-
-
Ranke, M.B.1
Heidemann, P.2
Knupfer, C.3
Enders, H.4
Schmaltz, A.A.5
Bierich, J.R.6
-
28
-
-
0014899071
-
Standards for children's height at ages 2-9 years allowing for heights of parents
-
Tanner JM, Goldstein H, Whitehouse RH 1970 Standards for children's height at ages 2-9 years allowing for heights of parents. Arch Dis Child 45:755-762
-
(1970)
Arch Dis Child
, vol.45
, pp. 755-762
-
-
Tanner, J.M.1
Goldstein, H.2
Whitehouse, R.H.3
-
29
-
-
0031150017
-
The role of phosphotyrosine phosphatases in haematopoietic cell signal transduction
-
Frearson JA, Alexander DR 1997 The role of phosphotyrosine phosphatases in haematopoietic cell signal transduction. Bioessays 19:417-427
-
(1997)
Bioessays
, vol.19
, pp. 417-427
-
-
Frearson, J.A.1
Alexander, D.R.2
-
30
-
-
0030843626
-
Juvenile myelomonocytic leukemia
-
Arico M, Biondi A, Pui CH 1997 Juvenile myelomonocytic leukemia. Blood 90:479-488
-
(1997)
Blood
, vol.90
, pp. 479-488
-
-
Arico, M.1
Biondi, A.2
Pui, C.H.3
-
31
-
-
12144286410
-
Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis
-
Loh ML, Vattikuti S, Schubbert S, Reynolds MG, Carlson E, Lieuw KH, Cheng JW, Lee CM, Stokoe D, Bonifas JM, Curtiss NP, Gotlib J, Meshinchi S, Le Beau MM, Emanuel PD, Shannon KM 2004 Mutations in PTPN11 implicate the SHP-2 phosphatase in leukemogenesis. Blood 103:2325-2331
-
(2004)
Blood
, vol.103
, pp. 2325-2331
-
-
Loh, M.L.1
Vattikuti, S.2
Schubbert, S.3
Reynolds, M.G.4
Carlson, E.5
Lieuw, K.H.6
Cheng, J.W.7
Lee, C.M.8
Stokoe, D.9
Bonifas, J.M.10
Curtiss, N.P.11
Gotlib, J.12
Meshinchi, S.13
Le Beau, M.M.14
Emanuel, P.D.15
Shannon, K.M.16
-
32
-
-
0037754965
-
Disorders of sex differentiation
-
Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, eds. Philadelphia: Saunders
-
Grumbach MM, Hughes IA, Conte FA 2003 Disorders of sex differentiation. In: Larsen PR, Kronenberg HM, Melmed S, Polonsky KS, eds. Williams text-book of endocrinology, 10th ed. Philadelphia: Saunders; 842-1002
-
(2003)
Williams Text-book of Endocrinology, 10th Ed.
, pp. 842-1002
-
-
Grumbach, M.M.1
Hughes, I.A.2
Conte, F.A.3
-
33
-
-
0033755417
-
Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B
-
Stofega MR, Herrington J, Billestrup N, Carter-Su C 2000 Mutation of the SHP-2 binding site in growth hormone (GH) receptor prolongs GH-promoted tyrosyl phosphorylation of GH receptor, JAK2, and STAT5B. Mol Endocrinol 14:1338-1350
-
(2000)
Mol Endocrinol
, vol.14
, pp. 1338-1350
-
-
Stofega, M.R.1
Herrington, J.2
Billestrup, N.3
Carter-Su, C.4
-
35
-
-
0033940279
-
Growth hormone therapy in Noonan syndrome
-
Kelnar CJ 2000 Growth hormone therapy in Noonan syndrome. Horm Res 53(Suppl 1):77-81
-
(2000)
Horm Res
, vol.53
, Issue.1 SUPPL.
, pp. 77-81
-
-
Kelnar, C.J.1
-
36
-
-
0021807330
-
Noonan syndrome: The changing phenotype
-
Allanson JE, Hall JG, Hughes HE, Preus M, Witt RD 1985 Noonan syndrome: the changing phenotype. Am J Med Genet 21:507-514
-
(1985)
Am J Med Genet
, vol.21
, pp. 507-514
-
-
Allanson, J.E.1
Hall, J.G.2
Hughes, H.E.3
Preus, M.4
Witt, R.D.5
-
37
-
-
0030851890
-
Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis)
-
Coppin BD, Temple IK 1997 Multiple lentigines syndrome (LEOPARD syndrome or progressive cardiomyopathic lentiginosis). J Med Genet 34:582-586
-
(1997)
J Med Genet
, vol.34
, pp. 582-586
-
-
Coppin, B.D.1
Temple, I.K.2
-
38
-
-
0344386746
-
Hypertrophic cardiomyopathy
-
Allen HD, Gutgesell HP, Clark EB, Driscoll DJ, eds. Baltimore: Lippincott Williams & Wilkins
-
Maron BJ 2001 Hypertrophic cardiomyopathy. In: Allen HD, Gutgesell HP, Clark EB, Driscoll DJ, eds. Moss and Adam's heart disease in infants, children, and adolescents, 6th ed. Baltimore: Lippincott Williams & Wilkins; 1167-1186
-
(2001)
Moss and Adam's Heart Disease in Infants, Children, and Adolescents, 6th Ed.
, pp. 1167-1186
-
-
Maron, B.J.1
|