-
1
-
-
84966378324
-
Objective studies of the face of Noonan, cardio-facio-cutaneous, and Costello syndromes: a comparison of three disorders of the Ras/MAPK signaling pathway
-
COI: 1:CAS:528:DC%2BC28XhsFWmurfN
-
Allanson JE. Objective studies of the face of Noonan, cardio-facio-cutaneous, and Costello syndromes: a comparison of three disorders of the Ras/MAPK signaling pathway. Am J Med Genet A 2016;170:2570–2577
-
(2016)
Am J Med Genet A
, vol.170
, pp. 2570-2577
-
-
Allanson, J.E.1
-
2
-
-
84938555313
-
Cardiomyopathies in Noonan syndrome and the other RASopathies
-
Gelb BD, Roberts AE, Tartaglia M. Cardiomyopathies in Noonan syndrome and the other RASopathies. Prog Pediatr Cardiol 2015;39:13–19
-
(2015)
Prog Pediatr Cardiol
, vol.39
, pp. 13-19
-
-
Gelb, B.D.1
Roberts, A.E.2
Tartaglia, M.3
-
3
-
-
84897475518
-
Cardiac findings in Noonan syndrome on long-term follow-up
-
Colquitt JL, Noonan JA. Cardiac findings in Noonan syndrome on long-term follow-up. Congenit Heart Dis 2014;9:144–150
-
(2014)
Congenit Heart Dis
, vol.9
, pp. 144-150
-
-
Colquitt, J.L.1
Noonan, J.A.2
-
4
-
-
84905907442
-
Noonan syndrome
-
Pagon RA, Adam MP, Ardinger HH et al,, (eds), University of Washington, Seattle, WA
-
Allanson JE, Roberts AE. Noonan syndrome. In: Pagon RA, Adam MP, Ardinger HH et al, (eds). GeneReviews. University of Washington: Seattle,: WA, 1993
-
(1993)
Genereviews
-
-
Allanson, J.E.1
Roberts, A.E.2
-
6
-
-
84884311848
-
The RASopathies
-
COI: 1:CAS:528:DC%2BC3sXhslSmsrnP
-
Rauen KA. The RASopathies. Annu Rev Genomics Hum Genet 2013;14:355–369
-
(2013)
Annu Rev Genomics Hum Genet
, vol.14
, pp. 355-369
-
-
Rauen, K.A.1
-
7
-
-
84966292091
-
The Fourth International Symposium on Genetic Disorders of the Ras/MAPK Pathway
-
Stevenson DA, Schill L, Schoyer L et al. The Fourth International Symposium on Genetic Disorders of the Ras/MAPK Pathway. Am J Med Genet A 2016;170:1959–1966
-
(2016)
Am J Med Genet A
, vol.170
, pp. 1959-1966
-
-
Stevenson, D.A.1
Schill, L.2
Schoyer, L.3
-
8
-
-
84930622528
-
Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome
-
COI: 1:CAS:528:DC%2BC2MXhsVCgt7rK
-
Yamamoto GL, Aguena M, Gos M et al. Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome. J Med Genet 2015;52:413–421
-
(2015)
J Med Genet
, vol.52
, pp. 413-421
-
-
Yamamoto, G.L.1
Aguena, M.2
Gos, M.3
-
9
-
-
84895825681
-
Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas
-
COI: 1:CAS:528:DC%2BC3sXhvFylu73K
-
Piotrowski A, Xie J, Liu YF et al. Germline loss-of-function mutations in LZTR1 predispose to an inherited disorder of multiple schwannomas. Nat Genet 2014;46:182–187
-
(2014)
Nat Genet
, vol.46
, pp. 182-187
-
-
Piotrowski, A.1
Xie, J.2
Liu, Y.F.3
-
10
-
-
84941023547
-
A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome
-
COI: 1:CAS:528:DC%2BC2MXhtlektr7F
-
Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM et al. A point mutation in PDGFRB causes autosomal-dominant Penttinen syndrome. Am J Hum Genet 2015;97:465–474
-
(2015)
Am J Hum Genet
, vol.97
, pp. 465-474
-
-
Johnston, J.J.1
Sanchez-Contreras, M.Y.2
Keppler-Noreuil, K.M.3
-
11
-
-
84918771753
-
Molecular findings among patients referred for clinical whole-exome sequencing
-
COI: 1:CAS:528:DC%2BC2MXisFWqsb4%3D
-
Yang Y, Muzny DM, Xia F et al. Molecular findings among patients referred for clinical whole-exome sequencing. JAMA 2014;312:1870–1879
-
(2014)
JAMA
, vol.312
, pp. 1870-1879
-
-
Yang, Y.1
Muzny, D.M.2
Xia, F.3
-
12
-
-
84964871252
-
Identification of a G-Protein subunit-alpha11 gain-of-function mutation, Val340Met, in a family with autosomal dominant hypocalcemia type 2 (ADH2)
-
COI: 1:CAS:528:DC%2BC28XptVekurk%3D
-
Piret SE, Gorvin CM, Pagnamenta AT et al. Identification of a G-Protein subunit-alpha11 gain-of-function mutation, Val340Met, in a family with autosomal dominant hypocalcemia type 2 (ADH2). J Bone Miner Res 2016;31:1207–1214
-
(2016)
J Bone Miner Res
, vol.31
, pp. 1207-1214
-
-
Piret, S.E.1
Gorvin, C.M.2
Pagnamenta, A.T.3
-
13
-
-
0014444389
-
Familial Turner phenotype
-
COI: 1:STN:280:DyaF1M%2Fmsl2ltg%3D%3D
-
Abdel-Salam E, Temtamy SA. Familial Turner phenotype. J Pediatr 1969;74:67–72
-
(1969)
J Pediatr
, vol.74
, pp. 67-72
-
-
Abdel-Salam, E.1
Temtamy, S.A.2
-
14
-
-
0026771993
-
A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?
-
COI: 1:STN:280:DyaK38zlt1KqtQ%3D%3D, PID: 1642809
-
Maximilian C, Ioan DM, Fryns JP. A syndrome of mental retardation, short stature, craniofacial anomalies with palpebral ptosis and pulmonary stenosis in three siblings with normal parents. An example of autosomal recessive inheritance of the Noonan phenotype?. Genet Couns 1992;3:115–118
-
(1992)
Genet Couns
, vol.3
, pp. 115-118
-
-
Maximilian, C.1
Ioan, D.M.2
Fryns, J.P.3
-
15
-
-
0034605374
-
Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form
-
COI: 1:STN:280:DC%2BD3cvmtFCisw%3D%3D
-
van Der Burgt I, Brunner H. Genetic heterogeneity in Noonan syndrome: evidence for an autosomal recessive form. Am J Med Genet 2000;94:46–51
-
(2000)
Am J Med Genet
, vol.94
, pp. 46-51
-
-
van Der Burgt, I.1
Brunner, H.2
-
16
-
-
84878845351
-
Age-dependent germline mosaicism of the most common Noonan syndrome mutation shows the signature of germline selection
-
COI: 1:CAS:528:DC%2BC3sXos12rtbs%3D
-
Yoon SR, Choi SK, Eboreime J, Gelb BD, Calabrese P, Arnheim N. Age-dependent germline mosaicism of the most common Noonan syndrome mutation shows the signature of germline selection. Am J Hum Genet 2013;92:917–926
-
(2013)
Am J Hum Genet
, vol.92
, pp. 917-926
-
-
Yoon, S.R.1
Choi, S.K.2
Eboreime, J.3
Gelb, B.D.4
Calabrese, P.5
Arnheim, N.6
-
17
-
-
84905639695
-
Next-generation sequencing identifies rare variants associated with Noonan syndrome
-
COI: 1:CAS:528:DC%2BC2cXhtFyqtLbN
-
Chen PC, Yin J, Yu HW et al. Next-generation sequencing identifies rare variants associated with Noonan syndrome. Proc Natl Acad Sci USA 2014;111:11473–11478
-
(2014)
Proc Natl Acad Sci USA
, vol.111
, pp. 11473-11478
-
-
Chen, P.C.1
Yin, J.2
Yu, H.W.3
-
18
-
-
84925968894
-
Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis
-
COI: 1:CAS:528:DC%2BC2MXhtFyrtrY%3D
-
Smith MJ, Isidor B, Beetz C et al. Mutations in LZTR1 add to the complex heterogeneity of schwannomatosis. Neurology 2015;84:141–147
-
(2015)
Neurology
, vol.84
, pp. 141-147
-
-
Smith, M.J.1
Isidor, B.2
Beetz, C.3
-
19
-
-
84930870937
-
Expanding the mutational spectrum of LZTR1 in schwannomatosis
-
COI: 1:CAS:528:DC%2BC2cXhvVWntbnE
-
Paganini I, Chang VY, Capone GL et al. Expanding the mutational spectrum of LZTR1 in schwannomatosis. Eur J Hum Genet 2015;23:963–968
-
(2015)
Eur J Hum Genet
, vol.23
, pp. 963-968
-
-
Paganini, I.1
Chang, V.Y.2
Capone, G.L.3
-
20
-
-
85040707839
-
Molecular autopsy in maternal–fetal medicine
-
e-pub ahead of print 27 July
-
Shamseldin HE, Kurdi W, Almusafri F et al. Molecular autopsy in maternal–fetal medicine. Genet Med; e-pub ahead of print 27 July 2017
-
(2017)
Genet Med
-
-
Shamseldin, H.E.1
Kurdi, W.2
Almusafri, F.3
-
21
-
-
85002279667
-
The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis
-
COI: 1:CAS:528:DC%2BC28XitVKjt73O
-
Kehrer-Sawatzki H, Farschtschi S, Mautner VF, Cooper DN. The molecular pathogenesis of schwannomatosis, a paradigm for the co-involvement of multiple tumour suppressor genes in tumorigenesis. Hum Genet 2017;136:129–148
-
(2017)
Hum Genet
, vol.136
, pp. 129-148
-
-
Kehrer-Sawatzki, H.1
Farschtschi, S.2
Mautner, V.F.3
Cooper, D.N.4
-
22
-
-
84884706978
-
-
Pagon RA, Adam MP, Ardinger HH et al, eds, GeneReviews. University of Washington: Seattle,: WA
-
McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 Deletion syndrome. In: Pagon RA, Adam MP, Ardinger HH et al, (eds). GeneReviews. University of Washington: Seattle,: WA, 1993
-
(1993)
22Q11.2 Deletion Syndrome
-
-
McDonald-Mcginn, D.M.1
Emanuel, B.S.2
Zackai, E.H.3
-
23
-
-
84881452649
-
Bernard-Soulier syndrome caused by a hemizygous GPIbbeta mutation and 22q11.2 deletion
-
COI: 1:CAS:528:DC%2BC3sXht1Chsb%2FJ
-
Kunishima S, Imai T, Kobayashi R, Kato M, Ogawa S, Saito H. Bernard-Soulier syndrome caused by a hemizygous GPIbbeta mutation and 22q11.2 deletion. Pediatr Int 2013;55:434–437
-
(2013)
Pediatr Int
, vol.55
, pp. 434-437
-
-
Kunishima, S.1
Imai, T.2
Kobayashi, R.3
Kato, M.4
Ogawa, S.5
Saito, H.6
-
24
-
-
79957456416
-
Unmasking of a recessive SCARF2 mutation by a 22q11.12 de novo deletion in a patient with van den Ende-Gupta syndrome
-
COI: 1:STN:280:DC%2BC2sbovFWrug%3D%3D
-
Bedeschi MF, Colombo L, Mari F et al. Unmasking of a recessive SCARF2 mutation by a 22q11.12 de novo deletion in a patient with van den Ende-Gupta syndrome. Mol Syndromol 2010;1:239–245
-
(2010)
Mol Syndromol
, vol.1
, pp. 239-245
-
-
Bedeschi, M.F.1
Colombo, L.2
Mari, F.3
-
25
-
-
84873056524
-
Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS
-
COI: 1:CAS:528:DC%2BC3sXjtF2nsbc%3D
-
McDonald-McGinn DM, Fahiminiya S, Revil T et al. Hemizygous mutations in SNAP29 unmask autosomal recessive conditions and contribute to atypical findings in patients with 22q11.2DS. J Med Genet 2013;50:80–90
-
(2013)
J Med Genet
, vol.50
, pp. 80-90
-
-
McDonald-McGinn, D.M.1
Fahiminiya, S.2
Revil, T.3
-
26
-
-
73849142941
-
Malignant diseases in Noonan syndrome and related disorders
-
COI: 1:CAS:528:DC%2BD1MXhsF2gtr3M
-
Hasle H. Malignant diseases in Noonan syndrome and related disorders. Horm Res 2009;72(suppl 2):8–14
-
(2009)
Horm Res
, vol.72
, pp. 8-14
-
-
Hasle, H.1
|