-
1
-
-
0030862260
-
-
Curry CJ, Estevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference. Am J Med Genet 1997; 72: 468-77.
-
Curry CJ, Estevenson RE, Aughton D, Byrne J, Carey JC, Cassidy S, et al. Evaluation of mental retardation: recommendations of a consensus conference. Am J Med Genet 1997; 72: 468-77.
-
-
-
-
2
-
-
12744278217
-
Diagnostic investigation in individuals with mental retardation: A systematic literature review of their usefulness
-
Van Karnebeek CDM, Jansweijer MCE, Leenders AGE, Offringa M, Hennekam R. Diagnostic investigation in individuals with mental retardation: a systematic literature review of their usefulness. Eur J Hum Genet 2005; 13: 6-25.
-
(2005)
Eur J Hum Genet
, vol.13
, pp. 6-25
-
-
Van Karnebeek, C.D.M.1
Jansweijer, M.C.E.2
Leenders, A.G.E.3
Offringa, M.4
Hennekam, R.5
-
3
-
-
21844477619
-
Genetic causes of mental retardation
-
Rehder H, Fritz B. Genetic causes of mental retardation. Wien Med Wochenschr 2005; 155: 248-67.
-
(2005)
Wien Med Wochenschr
, vol.155
, pp. 248-267
-
-
Rehder, H.1
Fritz, B.2
-
4
-
-
0037370826
-
Learning, memory, and transcription factors
-
Johnston MV, Alemi L, Harum KH. Learning, memory, and transcription factors. Pediatrics Res 2003; 53: 369-74.
-
(2003)
Pediatrics Res
, vol.53
, pp. 369-374
-
-
Johnston, M.V.1
Alemi, L.2
Harum, K.H.3
-
5
-
-
0035235481
-
Sculpting the developing brain
-
Johnston MV, Nishimura A, Harum K, Pekar J, Blue ME. Sculpting the developing brain. Adv Pediatr 2001; 48: 1-38.
-
(2001)
Adv Pediatr
, vol.48
, pp. 1-38
-
-
Johnston, M.V.1
Nishimura, A.2
Harum, K.3
Pekar, J.4
Blue, M.E.5
-
7
-
-
0033605451
-
Cognitive impairment in neurofibromatosis type 1
-
Ozonoff S. Cognitive impairment in neurofibromatosis type 1. Am J Med Genet 1999; 89: 45-52.
-
(1999)
Am J Med Genet
, vol.89
, pp. 45-52
-
-
Ozonoff, S.1
-
8
-
-
0024456038
-
A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity
-
Huson SM, Compston DA, Clark P, Harper PS. A genetic study of von Recklinghausen neurofibromatosis in south east Wales. I. Prevalence, fitness, mutation rate, and effect of parental transmission on severity. J Med Genet 1989; 26: 704-11.
-
(1989)
J Med Genet
, vol.26
, pp. 704-711
-
-
Huson, S.M.1
Compston, D.A.2
Clark, P.3
Harper, P.S.4
-
10
-
-
0024205878
-
Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales
-
Huson SM, Harper PS, Compston DA. Von Recklinghausen neurofibromatosis. A clinical and population study in south-east Wales. Brain 1988; 111: 1355-81.
-
(1988)
Brain
, vol.111
, pp. 1355-1381
-
-
Huson, S.M.1
Harper, P.S.2
Compston, D.A.3
-
12
-
-
0027096707
-
Nosological considerations of the neurofibromatoses
-
Viskochil D, Carey JC. Nosological considerations of the neurofibromatoses. J Dermatol 1992; 19: 873-80.
-
(1992)
J Dermatol
, vol.19
, pp. 873-880
-
-
Viskochil, D.1
Carey, J.C.2
-
13
-
-
0029890041
-
Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis
-
Moore BD, Slopis JM, Schomer D, Jackson EF, Levy BM. Neuropsychological significance of areas of high signal intensity on brain MRIs of children with neurofibromatosis. Neurology 1996; 46: 1660-8.
-
(1996)
Neurology
, vol.46
, pp. 1660-1668
-
-
Moore, B.D.1
Slopis, J.M.2
Schomer, D.3
Jackson, E.F.4
Levy, B.M.5
-
14
-
-
0022924137
-
Neurofibromatosis. A genetic epidemiologist's point of view
-
Mulvihill JJ. Neurofibromatosis. A genetic epidemiologist's point of view. Ann N Y Acad Sci 1986; 486: 38-44.
-
(1986)
Ann N Y Acad Sci
, vol.486
, pp. 38-44
-
-
Mulvihill, J.J.1
-
15
-
-
0025326726
-
A major segment of the neurofibromatosis type 1 gene: CDNA sequence, genomic structure, and point mutations
-
Cawthon RM, Weiss R, Xu GF, Viskochil D, Culver M, Stevens J, et al. A major segment of the neurofibromatosis type 1 gene: cDNA sequence, genomic structure, and point mutations. Cell 1990; 62: 193-201.
-
(1990)
Cell
, vol.62
, pp. 193-201
-
-
Cawthon, R.M.1
Weiss, R.2
Xu, G.F.3
Viskochil, D.4
Culver, M.5
Stevens, J.6
-
16
-
-
0025369709
-
Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus
-
Viskochil D, Buchberg AM, Xu G, Cawthon RM, Stevens J, Wolff RK, et al. Deletions and a translocation interrupt a cloned gene at the neurofibromatosis type 1 locus. Cell 1990; 62: 187-92.
-
(1990)
Cell
, vol.62
, pp. 187-192
-
-
Viskochil, D.1
Buchberg, A.M.2
Xu, G.3
Cawthon, R.M.4
Stevens, J.5
Wolff, R.K.6
-
17
-
-
0025951042
-
A de novo Alu insertion results in neurofibromatosis type 1
-
Wallace MR, Andersen LB, Saulino AM, Gregory PE, Glover TW, Collins FS. A de novo Alu insertion results in neurofibromatosis type 1. Nature 1991; 353: 864-6.
-
(1991)
Nature
, vol.353
, pp. 864-866
-
-
Wallace, M.R.1
Andersen, L.B.2
Saulino, A.M.3
Gregory, P.E.4
Glover, T.W.5
Collins, F.S.6
-
18
-
-
0028928718
-
Genomic organization of the neurofibromatosis 1 gene (NF1)
-
Li Y, O'Connel P, Breidenbach HH, Cawthon R, Stevens J, Xu G, et al. Genomic organization of the neurofibromatosis 1 gene (NF1). Genomics 1995; 25: 9-18.
-
(1995)
Genomics
, vol.25
, pp. 9-18
-
-
Li, Y.1
O'Connel, P.2
Breidenbach, H.H.3
Cawthon, R.4
Stevens, J.5
Xu, G.6
-
19
-
-
0026570008
-
Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes
-
Stephens K, Kayes L, Riccardi VM, Rising M, Sybert VP, Pagon RA. Preferential mutation of the neurofibromatosis type 1 gene in paternally derived chromosomes. Hum Genet 1992; 88: 279-82.
-
(1992)
Hum Genet
, vol.88
, pp. 279-282
-
-
Stephens, K.1
Kayes, L.2
Riccardi, V.M.3
Rising, M.4
Sybert, V.P.5
Pagon, R.A.6
-
20
-
-
0029969028
-
Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients
-
Lázaro C, Gaona A, Ainsworth P, Tenconi R, Vidaud D, Kruyer H, et al. Sex differences in mutational rate and mutational mechanism in the NF1 gene in neurofibromatosis type 1 patients. Hum Genet 1996; 98: 696-9.
-
(1996)
Hum Genet
, vol.98
, pp. 696-699
-
-
Lázaro, C.1
Gaona, A.2
Ainsworth, P.3
Tenconi, R.4
Vidaud, D.5
Kruyer, H.6
-
21
-
-
0031744843
-
Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dismorphic features and developmental delay
-
Upadhyaya M, Ruggieri M, Maynard J, Osborn M, Hartog C, Mudd S, et al. Gross deletions of the neurofibromatosis type 1 (NF1) gene are predominantly of maternal origin and commonly associated with a learning disability, dismorphic features and developmental delay. Hum Genet 1998; 102: 591-7.
-
(1998)
Hum Genet
, vol.102
, pp. 591-597
-
-
Upadhyaya, M.1
Ruggieri, M.2
Maynard, J.3
Osborn, M.4
Hartog, C.5
Mudd, S.6
-
22
-
-
0029078029
-
Biological Basis of germline mutation: Comparisons of spontaneous germline mutation rates among Drosophila, mouse and human
-
Drost JB, Lee WR. Biological Basis of germline mutation: comparisons of spontaneous germline mutation rates among Drosophila, mouse and human. Environ Mol Mutagen 2000; 25 (Suppl 26): 48-64.
-
(2000)
Environ Mol Mutagen
, vol.25
, Issue.SUPPL. 26
, pp. 48-64
-
-
Drost, J.B.1
Lee, W.R.2
-
23
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Faure S, Fizames C, Samson D, Drouot N, Vignal A, et al. A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-254.
-
(1996)
Nature
, vol.380
, pp. 152-254
-
-
Dib, C.1
Faure, S.2
Fizames, C.3
Samson, D.4
Drouot, N.5
Vignal, A.6
-
24
-
-
0034057657
-
NF1 microdeletion breakpoints are clustered at flanking repetitive sequences
-
Dorschner MO, Sybert VP, Weaver M, Pletcher BA, Stephens K. NF1 microdeletion breakpoints are clustered at flanking repetitive sequences. Hum Mol Genet 2000; 9: 35-46.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 35-46
-
-
Dorschner, M.O.1
Sybert, V.P.2
Weaver, M.3
Pletcher, B.A.4
Stephens, K.5
-
25
-
-
0027395503
-
A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activation protein activity
-
Andersen LB, Ballester R, Marchuk DA, Chang E, Gutmann DH, Saulino AM, et al. A conserved alternative splice in the von Recklinghausen neurofibromatosis (NF1) gene produces two neurofibromin isoforms, both of which have GTPase-activation protein activity. Mol Cell Biol 1993; 13: 487-95.
-
(1993)
Mol Cell Biol
, vol.13
, pp. 487-495
-
-
Andersen, L.B.1
Ballester, R.2
Marchuk, D.A.3
Chang, E.4
Gutmann, D.H.5
Saulino, A.M.6
-
26
-
-
0036700964
-
Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1
-
Costa RM, Silva AJ. Molecular and cellular mechanisms underlying the cognitive deficits associated with neurofibromatosis 1. J Child Neurol 2002; 17: 622-6.
-
(2002)
J Child Neurol
, vol.17
, pp. 622-626
-
-
Costa, R.M.1
Silva, A.J.2
-
27
-
-
0037526871
-
TSC1 and TSC2: Genes that are mutated in the human genetic disorder tuberous sclerosis
-
Sampson JR. TSC1 and TSC2: genes that are mutated in the human genetic disorder tuberous sclerosis. Bioch Soc Transac 2003; 31: 592-6.
-
(2003)
Bioch Soc Transac
, vol.31
, pp. 592-596
-
-
Sampson, J.R.1
-
28
-
-
0027326851
-
Renal cystic disease in tuberous sclerosis complex
-
Bernstein J. Renal cystic disease in tuberous sclerosis complex. Pediatr Nephrol 1993; 7: 490-5.
-
(1993)
Pediatr Nephrol
, vol.7
, pp. 490-495
-
-
Bernstein, J.1
-
29
-
-
0035881026
-
Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex
-
Moss J, Ávila NA, Barnes PM, Litzenberger RA, Betchle J, Brooks PG, et al. Prevalence and clinical characteristics of lymphangioleiomyomatosis (LAM) in patients with tuberous sclerosis complex. Am J Respir Crit Care Med 2001; 163: 669-71.
-
(2001)
Am J Respir Crit Care Med
, vol.163
, pp. 669-671
-
-
Moss, J.1
Ávila, N.A.2
Barnes, P.M.3
Litzenberger, R.A.4
Betchle, J.5
Brooks, P.G.6
-
30
-
-
0023158819
-
Evidence that the gene for tuberous sclerosis is on chromosome 9
-
Fryer AE, Chalmers A, Connor JM, Fraser I, Povey S, Yates AD, et al. Evidence that the gene for tuberous sclerosis is on chromosome 9. Lancet 1987; 1: 659-61.
-
(1987)
Lancet
, vol.1
, pp. 659-661
-
-
Fryer, A.E.1
Chalmers, A.2
Connor, J.M.3
Fraser, I.4
Povey, S.5
Yates, A.D.6
-
31
-
-
0026922021
-
Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease
-
Kandt RS, Haines JL, Smith M, Northrup H, Gardner RJM, Short MP, et al. Linkage of an important gene locus for tuberous sclerosis to a chromosome 16 marker for polycystic kidney disease. Nat Genet 1992; 2: 37-41.
-
(1992)
Nat Genet
, vol.2
, pp. 37-41
-
-
Kandt, R.S.1
Haines, J.L.2
Smith, M.3
Northrup, H.4
Gardner, R.J.M.5
Short, M.P.6
-
32
-
-
0030879277
-
Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34
-
Van Slegtenhorst M, De Hoogt R, Hermans C, Nellist M, Janssen B, Verhoef S, et al. Identification of the tuberous sclerosis gene TSC1 on chromosome 9q34. Science 1997; 77: 805-8.
-
(1997)
Science
, vol.77
, pp. 805-808
-
-
Van Slegtenhorst, M.1
De Hoogt, R.2
Hermans, C.3
Nellist, M.4
Janssen, B.5
Verhoef, S.6
-
34
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
-
Niida Y, Lawrence-Smith M, Banwell A, Hammer E, Lewis J, Beauchamp R, et al. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 1999; 14: 412-22.
-
(1999)
Hum Mutat
, vol.14
, pp. 412-422
-
-
Niida, Y.1
Lawrence-Smith, M.2
Banwell, A.3
Hammer, E.4
Lewis, J.5
Beauchamp, R.6
-
35
-
-
16944367389
-
Renal cystic disease in tuberous sclerosis: Role of the polycystic kidney disease 1 gene
-
Sampson JR, Maheshwar MM, Aspinwall R, Thompson P, Cheadle JP, Ravine D, et al. Renal cystic disease in tuberous sclerosis: role of the polycystic kidney disease 1 gene. Am J Hum Genet 1997; 61: 843-51.
-
(1997)
Am J Hum Genet
, vol.61
, pp. 843-851
-
-
Sampson, J.R.1
Maheshwar, M.M.2
Aspinwall, R.3
Thompson, P.4
Cheadle, J.P.5
Ravine, D.6
-
36
-
-
0033358599
-
Germ-line mosaicism in tuberous sclerosis: How common?
-
Rose VM, Au KS, Pollom G, Roach ES, Prashner HR, Northrup H. Germ-line mosaicism in tuberous sclerosis: how common? Am J Hum Genet 1999; 95: 986-92.
-
(1999)
Am J Hum Genet
, vol.95
, pp. 986-992
-
-
Rose, V.M.1
Au, K.S.2
Pollom, G.3
Roach, E.S.4
Prashner, H.R.5
Northrup, H.6
-
37
-
-
9044220611
-
Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal regions in tuberous sclerosis hamartomas
-
Carbonara C, Longa L, Grosso E, Mazzucco G, Borrone C, Garre ML, et al. Apparent preferential loss of heterozygosity at TSC2 over TSC1 chromosomal regions in tuberous sclerosis hamartomas. Genes Chromosom Cancer 1996; 15: 18-25.
-
(1996)
Genes Chromosom Cancer
, vol.15
, pp. 18-25
-
-
Carbonara, C.1
Longa, L.2
Grosso, E.3
Mazzucco, G.4
Borrone, C.5
Garre, M.L.6
-
39
-
-
0033544919
-
Characterization of the cytosolic tuberin-hamartin complex: Tuberin is a cytosolic chaperone for hamartin
-
Nellist M, Van Slegtenhorst MA, Goedbloed M, Van den Ouweland AMW, Halley DJ, Van der Sluijs P. Characterization of the cytosolic tuberin-hamartin complex: tuberin is a cytosolic chaperone for hamartin. J Biol Chem 1999; 274: 35647-52.
-
(1999)
J Biol Chem
, vol.274
, pp. 35647-35652
-
-
Nellist, M.1
Van Slegtenhorst, M.A.2
Goedbloed, M.3
Van den Ouweland, A.M.W.4
Halley, D.J.5
Van der Sluijs, P.6
-
40
-
-
0033653152
-
Clinical and genetic heterogeneity in myotonic dystrophies
-
Meola G. Clinical and genetic heterogeneity in myotonic dystrophies. Muscle Nerve 2000; 23: 89-1799.
-
(2000)
Muscle Nerve
, vol.23
, pp. 89-1799
-
-
Meola, G.1
-
41
-
-
0026566108
-
Molecular basis of myotonic dystrophy: Expansion of trinucleotide (CTG) repeat at the 3′ end of a transcription encoding a protein kinase family member
-
Brook JD, McCurrach ME, Harley HG, Buckber AJ, Church D, Aburatani H, et al. Molecular basis of myotonic dystrophy: expansion of trinucleotide (CTG) repeat at the 3′ end of a transcription encoding a protein kinase family member. Cell 1992; 68: 799-808.
-
(1992)
Cell
, vol.68
, pp. 799-808
-
-
Brook, J.D.1
McCurrach, M.E.2
Harley, H.G.3
Buckber, A.J.4
Church, D.5
Aburatani, H.6
-
42
-
-
0027485748
-
Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy
-
Harley HG, Rundle SA, MacMillan JC, Myring J, Brook JD, Crow S, et al. Size of the unstable CTG repeat sequence in relation to phenotype and parental transmission in myotonic dystrophy. Am J Hum Genet 1993; 52: 1164-74.
-
(1993)
Am J Hum Genet
, vol.52
, pp. 1164-1174
-
-
Harley, H.G.1
Rundle, S.A.2
MacMillan, J.C.3
Myring, J.4
Brook, J.D.5
Crow, S.6
-
43
-
-
0032910562
-
Myotonic dystrophy: The correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions
-
Hamshere MG, Harley H, Harper P, Brook JD, Brookfield JF. Myotonic dystrophy: the correlation of (CTG) repeat length in leucocytes with age at onset is significant only for patients with small expansions. J Med Genet 1999; 36: 59-61.
-
(1999)
J Med Genet
, vol.36
, pp. 59-61
-
-
Hamshere, M.G.1
Harley, H.2
Harper, P.3
Brook, J.D.4
Brookfield, J.F.5
-
44
-
-
0028873248
-
Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic distrophy males: Small pool PCR
-
Monckton DG, Wong LJ, Ashizawa T, Caskey CT. Somatic mosaicism, germline expansions, germline reversions and intergenerational reductions in myotonic distrophy males: small pool PCR. Hum Mol Genet 1995; 4: 1-8.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 1-8
-
-
Monckton, D.G.1
Wong, L.J.2
Ashizawa, T.3
Caskey, C.T.4
-
45
-
-
0027256028
-
Intergenerational stability of the myotonic dystrophy protomutation
-
Barceló JM, Mahadevan MS, Tsilfidis C, Mackenzie AE, Korneluk RG. Intergenerational stability of the myotonic dystrophy protomutation. Hum Mol Genet 1993; 2: 705-9.
-
(1993)
Hum Mol Genet
, vol.2
, pp. 705-709
-
-
Barceló, J.M.1
Mahadevan, M.S.2
Tsilfidis, C.3
Mackenzie, A.E.4
Korneluk, R.G.5
-
46
-
-
0027716510
-
Somatic instability of CTG repeat in myotonic dystrophy
-
Ashizawa T, Dubel JR, Harati Y. Somatic instability of CTG repeat in myotonic dystrophy. Neurology 1993; 43: 2674-8.
-
(1993)
Neurology
, vol.43
, pp. 2674-2678
-
-
Ashizawa, T.1
Dubel, J.R.2
Harati, Y.3
-
47
-
-
0033595470
-
Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy
-
Meola G, Sansone V, Perani D, Colleluori A, Cappa S, Cotelli M, et al. Reduced cerebral blood flow and impaired visual-spatial function in proximal myotonic myopathy. Neurology 1999; 53: 1042-50.
-
(1999)
Neurology
, vol.53
, pp. 1042-1050
-
-
Meola, G.1
Sansone, V.2
Perani, D.3
Colleluori, A.4
Cappa, S.5
Cotelli, M.6
-
48
-
-
0032211409
-
Expanding complexity in myotonic dystrophy
-
Groenen P, Wieringa B. Expanding complexity in myotonic dystrophy. Bioessays 1998; 20: 901-12.
-
(1998)
Bioessays
, vol.20
, pp. 901-912
-
-
Groenen, P.1
Wieringa, B.2
|