-
2
-
-
34548328245
-
Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype
-
Brems H., Chmara M., Sahbatou M., et al. Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet. 2007; 39: 1120-1126.
-
(2007)
Nat Genet
, vol.39
, pp. 1120-1126
-
-
Brems, H.1
Chmara, M.2
Sahbatou, M.3
-
3
-
-
67650470276
-
SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype
-
Pasmant E., Sabbagh A., Hanna N., et al. SPRED1 germline mutations caused a neurofibromatosis type 1 overlapping phenotype. J Med Genet. 2009; 46: 425-430.
-
(2009)
J Med Genet
, vol.46
, pp. 425-430
-
-
Pasmant, E.1
Sabbagh, A.2
Hanna, N.3
-
4
-
-
67650489624
-
SPRED1 mutations (Legius syndrome): Another clinically useful genotype for dissecting the NF1 phenotype
-
Spurlock G., Bennett E., Chuzhanova N., et al. SPRED1 mutations (Legius syndrome): another clinically useful genotype for dissecting the NF1 phenotype. J Med Genet. 2009; 46: 431-437.
-
(2009)
J Med Genet
, vol.46
, pp. 431-437
-
-
Spurlock, G.1
Bennett, E.2
Chuzhanova, N.3
-
5
-
-
71749103918
-
Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome
-
Messiaen L., Yao S., Brems H., et al. Clinical and mutational spectrum of neurofibromatosis type 1-like syndrome. JAMA. 2009; 302: 2111-2118.
-
(2009)
JAMA
, vol.302
, pp. 2111-2118
-
-
Messiaen, L.1
Yao, S.2
Brems, H.3
-
6
-
-
0001538063
-
Neurofibromatosis: National Institutes of Health Consensus Development Conference
-
National Institutes of Health
-
National Institutes of Health. Neurofibromatosis: National Institutes of Health Consensus Development Conference. Arch Neurol. 1988; 45: 575-578.
-
(1988)
Arch Neurol
, vol.45
, pp. 575-578
-
-
-
7
-
-
0030957310
-
The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2
-
Gutmann DH, Aylsworth A., Carey JC, et al. The diagnostic evaluation and multidisciplinary management of neurofibromatosis 1 and neurofibromatosis 2. JAMA. 1997; 278: 51-57.
-
(1997)
JAMA
, vol.278
, pp. 51-57
-
-
Gutmann, D.H.1
Aylsworth, A.2
Carey, J.C.3
-
8
-
-
0034081412
-
Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects
-
Messiaen LM, Callens T., Mortier G., et al. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat. 2000; 15: 541-555.
-
(2000)
Hum Mutat
, vol.15
, pp. 541-555
-
-
Messiaen, L.M.1
Callens, T.2
Mortier, G.3
-
9
-
-
0030966414
-
Type 1 neurofibromatosis: A descriptive analysis of the disorder in 1,728 patients
-
Friedman JM, Birch PH Type 1 neurofibromatosis: a descriptive analysis of the disorder in 1,728 patients. Am J Med Genet. 1997; 70: 138-143.
-
(1997)
Am J Med Genet
, vol.70
, pp. 138-143
-
-
Friedman, J.M.1
Birch, P.H.2
-
11
-
-
33644796904
-
Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype
-
Stevenson DA, Viskochil DH, Rope AF, Carey JC Clinical and molecular aspects of an informative family with neurofibromatosis type 1 and Noonan phenotype. Clin Genet. 2006; 69: 246-253.
-
(2006)
Clin Genet
, vol.69
, pp. 246-253
-
-
Stevenson, D.A.1
Viskochil, D.H.2
Rope, A.F.3
Carey, J.C.4
-
12
-
-
33644798554
-
Noonan syndrome with café-au-lait spots and LEOPARD syndrome: Evidence for genetic heterogeneity
-
Nyström AM, Annerén G., Bondeson ML Noonan syndrome with café-au-lait spots and LEOPARD syndrome: evidence for genetic heterogeneity. Am J Hum Genet. 2003; 73 (suppl): 725.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 725
-
-
Nyström, A.M.1
Annerén, G.2
Bondeson, M.L.3
-
13
-
-
0031660268
-
Costello syndrome: Phenotype, natural history, differential diagnosis, and possible cause
-
Johnson JP, Golabi M., Norton ME, et al. Costello syndrome: phenotype, natural history, differential diagnosis, and possible cause. J Pediatr. 1998; 133: 441-448.
-
(1998)
J Pediatr
, vol.133
, pp. 441-448
-
-
Johnson, J.P.1
Golabi, M.2
Norton, M.E.3
-
14
-
-
33845522242
-
Overlapping clinical phenotypes: The road to identifying dysmorphology signaling pathways and their associated risks
-
Lopez-Rangel E. Overlapping clinical phenotypes: the road to identifying dysmorphology signaling pathways and their associated risks. Clin Genet. 2007; 71: 43-44.
-
(2007)
Clin Genet
, vol.71
, pp. 43-44
-
-
Lopez-Rangel, E.1
-
15
-
-
0036074033
-
Grouping of multiplelentigines/LEOPARD and Noonan syndromes on the PTPN11 gene
-
Diglio MC, Conti E., Sarkozy A., et al. Grouping of multiplelentigines/ LEOPARD and Noonan syndromes on the PTPN11 gene. Am J Hum Genet. 2002; 71: 389-394.
-
(2002)
Am J Hum Genet
, vol.71
, pp. 389-394
-
-
Diglio, M.C.1
Conti, E.2
Sarkozy, A.3
-
16
-
-
0027363277
-
Tandem duplication within a neurofibromatosis type i (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome
-
Tassabehji M., Strachan T., Sharland M., et al. Tandem duplication within a neurofibromatosis type I (NF1) gene exon in a family with features of Watson syndrome and Noonan syndrome. Am J Hum Genet. 1993; 53: 90-95.
-
(1993)
Am J Hum Genet
, vol.53
, pp. 90-95
-
-
Tassabehji, M.1
Strachan, T.2
Sharland, M.3
-
17
-
-
0026048268
-
Watson syndrome: Is it a subtype of type 1 neurofibromatosis
-
Allanson JE, Upadhyaya M., Watson GH, et al. Watson syndrome: is it a subtype of type 1 neurofibromatosis ? J Med Genet. 1991; 28: 752-756.
-
(1991)
J Med Genet
, vol.28
, pp. 752-756
-
-
Allanson, J.E.1
Upadhyaya, M.2
Watson, G.H.3
-
18
-
-
0027526289
-
Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: Evidence of non-linkage
-
Charrow J., Listernick R., Ward K. Autosomal dominant multiple café-au-lait spots and neurofibromatosis-1: evidence of non-linkage. Am J Med Genet. 1993; 45: 606-608.
-
(1993)
Am J Med Genet
, vol.45
, pp. 606-608
-
-
Charrow, J.1
Listernick, R.2
Ward, K.3
-
20
-
-
61849107166
-
A severe form of Noonan syndrome and autosomal dominant café-au-lait spots: Evidence for different genetic origins
-
Nyström AM, Ekvall S., Strömberg B., et al. A severe form of Noonan syndrome and autosomal dominant café-au-lait spots: evidence for different genetic origins. Acta Paediatr. 2009; 98: 693-698.
-
(2009)
Acta Paediatr
, vol.98
, pp. 693-698
-
-
Nyström, A.M.1
Ekvall, S.2
Strömberg, B.3
-
21
-
-
0028971493
-
Familial cafe au lait spots: A variant of neurofibromatosis type 1
-
Abeliovich D., Gelman-Kohan Z., Silverstein S., et al. Familial cafe au lait spots: a variant of neurofibromatosis type 1. J Med Genet. 1995; 32: 985-986.
-
(1995)
J Med Genet
, vol.32
, pp. 985-986
-
-
Abeliovich, D.1
Gelman-Kohan, Z.2
Silverstein, S.3
-
22
-
-
0027223451
-
Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-au-lait spots
-
Brunner HG, Hulsebos T., Steijlen PM, et al. Exclusion of the neurofibromatosis 1 locus in a family with inherited cafe-au-lait spots. Am J Med Genet. 1993; 46: 472-474.
-
(1993)
Am J Med Genet
, vol.46
, pp. 472-474
-
-
Brunner, H.G.1
Hulsebos, T.2
Steijlen, P.M.3
-
23
-
-
66349130438
-
Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome
-
Wilken TC, Zenker M., Sticht H., et al. Independent NF1 and PTPN11 mutations in a family with neurofibromatosis-Noonan syndrome. Am J Med Genet A. 2009; 149A: 1263-1267.
-
(2009)
Am J Med Genet A
, vol.149
, pp. 1263-1267
-
-
Wilken, T.C.1
Zenker, M.2
Sticht, H.3
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