-
1
-
-
0029565532
-
Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden
-
Ahlin A, DeBoer M, Roos D, Leusen J, Smith CIE, Sundin U, Rabbani H, Palmblad J, Elinder G. 1995. Prevalence, genetics and clinical presentation of chronic granulomatous disease in Sweden. Acta Paediatr 84:1386-1394.
-
(1995)
Acta Paediatr
, vol.84
, pp. 1386-1394
-
-
Ahlin, A.1
DeBoer, M.2
Roos, D.3
Leusen, J.4
Smith, C.I.E.5
Sundin, U.6
Rabbani, H.7
Palmblad, J.8
Elinder, G.9
-
2
-
-
0034454581
-
Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome
-
Ahmed SF, Cheng A, Dovey L, Hawkins JR, Martin H, Rowland J, Shimura N, Tait AD, Hughes IA. 2000. Phenotypic features, androgen receptor binding, and mutational analysis in 278 clinical cases reported as androgen insensitivity syndrome. J Clin Endocrinol Metab 85:658-665.
-
(2000)
J Clin Endocrinol Metab
, vol.85
, pp. 658-665
-
-
Ahmed, S.F.1
Cheng, A.2
Dovey, L.3
Hawkins, J.R.4
Martin, H.5
Rowland, J.6
Shimura, N.7
Tait, A.D.8
Hughes, I.A.9
-
3
-
-
0030736616
-
APC mutations in familial adenomatous polyposis families in the Northwest of England
-
Armstrong JG, Davies DR, Guy SP, Frayling IM, Evans DGR. 1997. APC mutations in familial adenomatous polyposis families in the Northwest of England. Hum Mutat 10:376-380.
-
(1997)
Hum Mutat
, vol.10
, pp. 376-380
-
-
Armstrong, J.G.1
Davies, D.R.2
Guy, S.P.3
Frayling, I.M.4
Evans, D.G.R.5
-
4
-
-
0034121659
-
Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus
-
Arthus MF, Lonergan M, Crumley MJ, Naumova AK, Morin D, De Marco LA, Kaplan BS, Robertson GL, Sasaki S, Morgan K, Bichet DG, Fujiwara TM. 2000. Report of 33 novel AVPR2 mutations and analysis of 117 families with X-linked nephrogenic diabetes insipidus. J Am Soc Nephrol 11:1044-1054.
-
(2000)
J Am Soc Nephrol
, vol.11
, pp. 1044-1054
-
-
Arthus, M.F.1
Lonergan, M.2
Crumley, M.J.3
Naumova, A.K.4
Morin, D.5
De Marco, L.A.6
Kaplan, B.S.7
Robertson, G.L.8
Sasaki, S.9
Morgan, K.10
Bichet, D.G.11
Fujiwara, T.M.12
-
5
-
-
0034681511
-
Evidence for a high frequency of simultaneous double-nucleotide substitutions
-
Averof M, Rokas A, Wolfe KH, Sharp PM. 2000. Evidence for a high frequency of simultaneous double-nucleotide substitutions. Science 287:1283-1286.
-
(2000)
Science
, vol.287
, pp. 1283-1286
-
-
Averof, M.1
Rokas, A.2
Wolfe, K.H.3
Sharp, P.M.4
-
6
-
-
0035947688
-
PKD1 unusual DNA conformations are recognized by nucleotide excision repair
-
Bacolla A, Jaworski A, Connors TD, Wells RD. 2001. PKD1 unusual DNA conformations are recognized by nucleotide excision repair. J Biol Chem 276:18597-18604.
-
(2001)
J Biol Chem
, vol.276
, pp. 18597-18604
-
-
Bacolla, A.1
Jaworski, A.2
Connors, T.D.3
Wells, R.D.4
-
8
-
-
0030764946
-
The spectrum of primary immunodeficiency disorders in Australia
-
Baumgart KW, Britton WJ, Kemp A, French M, Roberton D. 1997. The spectrum of primary immunodeficiency disorders in Australia. J Allerg Clin Immunol 100:415-423.
-
(1997)
J Allerg Clin Immunol
, vol.100
, pp. 415-423
-
-
Baumgart, K.W.1
Britton, W.J.2
Kemp, A.3
French, M.4
Roberton, D.5
-
9
-
-
2642601107
-
Software and database for the analysis of mutations in the VHL gene
-
Beroud C, Joly D, Gallou C, Staroz F, Orfanelli MT, Junien C. 1998. Software and database for the analysis of mutations in the VHL gene. Nucl Acids Res 26:256-258.
-
(1998)
Nucl Acids Res
, vol.26
, pp. 256-258
-
-
Beroud, C.1
Joly, D.2
Gallou, C.3
Staroz, F.4
Orfanelli, M.T.5
Junien, C.6
-
10
-
-
0032513465
-
Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes
-
Bezman L, Moser HW. 1998. Incidence of X-linked adrenoleukodystrophy and the relative frequency of its phenotypes. Am J Med Genet 76:415-419.
-
(1998)
Am J Med Genet
, vol.76
, pp. 415-419
-
-
Bezman, L.1
Moser, H.W.2
-
11
-
-
0035071054
-
Adrenoleukodystrophy: Incidence, new mutation rate, and results of extended family screening
-
Bezman L, Moser AB, Raymond GV, Rinaldo P, Watkins PA, Smith KD, Kass NE, Moser HW. 2001. Adrenoleukodystrophy: incidence, new mutation rate, and results of extended family screening. Ann Neurol 49:512-517.
-
(2001)
Ann Neurol
, vol.49
, pp. 512-517
-
-
Bezman, L.1
Moser, A.B.2
Raymond, G.V.3
Rinaldo, P.4
Watkins, P.A.5
Smith, K.D.6
Kass, N.E.7
Moser, H.W.8
-
12
-
-
0028038158
-
Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus
-
Bichet DG, Birnbaumer M, Lonergan M, Arthus MF, Rosenthal W, Goodyer P, Nivet H, Benoit S, Giampietro P, Simonetti S, Fish A, Whitley CB, Jaeger P, Gertner J, New M, Dibona FJ, Kaplan BS, Robertson GL, Hendy GN, Fujiwara TM, Morgan K. 1994. Nature and recurrence of AVPR2 mutations in X-linked nephrogenic diabetes insipidus. Am J Hum Genet 55:278-286.
-
(1994)
Am J Hum Genet
, vol.55
, pp. 278-286
-
-
Bichet, D.G.1
Birnbaumer, M.2
Lonergan, M.3
Arthus, M.F.4
Rosenthal, W.5
Goodyer, P.6
Nivet, H.7
Benoit, S.8
Giampietro, P.9
Simonetti, S.10
Fish, A.11
Whitley, C.B.12
Jaeger, P.13
Gertner, J.14
New, M.15
Dibona, F.J.16
Kaplan, B.S.17
Robertson, G.L.18
Hendy, G.N.19
Fujiwara, T.M.20
Morgan, K.21
more..
-
13
-
-
0028350369
-
Familial adenomatous polyposis (FAP): Frequency, penetrance, and mutation rate
-
Bisgaard ML, Fenger K, Bulow S, Niebuhr E, Mohr J. 1994. Familial adenomatous polyposis (FAP): frequency, penetrance, and mutation rate. Hum Mutat 3:121-125.
-
(1994)
Hum Mutat
, vol.3
, pp. 121-125
-
-
Bisgaard, M.L.1
Fenger, K.2
Bulow, S.3
Niebuhr, E.4
Mohr, J.5
-
14
-
-
0033398433
-
Epidemiology of familial adenomatous polyposis in Sweden: Changes over time and differences in phenotype between males and females
-
Bjork J, Akerbrant H, Iselius L, Alm T, Hultcrantz R. 1999. Epidemiology of familial adenomatous polyposis in Sweden: changes over time and differences in phenotype between males and females. Scand J Gastroentero 34:1230-1235.
-
(1999)
Scand J Gastroentero
, vol.34
, pp. 1230-1235
-
-
Bjork, J.1
Akerbrant, H.2
Iselius, L.3
Alm, T.4
Hultcrantz, R.5
-
15
-
-
0032829265
-
Familial adenomatous polyposis (FAP) and its gene, APC
-
Bodmer W. 1999. Familial adenomatous polyposis (FAP) and its gene, APC. Cytogenet Cell Genet 86:99-104.
-
(1999)
Cytogenet Cell Genet
, vol.86
, pp. 99-104
-
-
Bodmer, W.1
-
16
-
-
0030862399
-
Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants
-
Buckley RH, Schiff RI, Schiff SE, Markert ML, Williams LW, Harville TO, Roberts JL, Puck JM. 1997. Human severe combined immunodeficiency: Genetic, phenotypic, and functional diversity in one hundred eight infants. J Pediatr 130:378-387.
-
(1997)
J Pediatr
, vol.130
, pp. 378-387
-
-
Buckley, R.H.1
Schiff, R.I.2
Schiff, S.E.3
Markert, M.L.4
Williams, L.W.5
Harville, T.O.6
Roberts, J.L.7
Puck, J.M.8
-
18
-
-
0033999318
-
APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients
-
Cao X, Eu KW, Seow-Choen F, Zao Y, Cheah PY. 2000. APC mutation and phenotypic spectrum of Singapore familial adenomatous polyposis patients. Eur J Hum Genet 8:42-48.
-
(2000)
Eur J Hum Genet
, vol.8
, pp. 42-48
-
-
Cao, X.1
Eu, K.W.2
Seow-Choen, F.3
Zao, Y.4
Cheah, P.Y.5
-
19
-
-
0034113512
-
Mutation in the PAX6 gene in twenty patients with aniridia
-
Chao LY, Huff V, Strong LC, Saunders GE 2000. Mutation in the PAX6 gene in twenty patients with aniridia. Hum Mutat 15:332-339.
-
(2000)
Hum Mutat
, vol.15
, pp. 332-339
-
-
Chao, L.Y.1
Huff, V.2
Strong, L.C.3
Saunders, G.E.4
-
20
-
-
0031980516
-
Mutations in Btk in patients with presumed X-linked agammaglobulinemia
-
Conley ME, Mathias D, Treadaway J, Minegishi Y, Rohrer J. 1998. Mutations in Btk in patients with presumed X-linked agammaglobulinemia. Am J Hum Genet 62:1034-1043.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1034-1043
-
-
Conley, M.E.1
Mathias, D.2
Treadaway, J.3
Minegishi, Y.4
Rohrer, J.5
-
21
-
-
0032930909
-
Mutations in JAGGED1 gene are predominantly sporadic in alagille syndrome
-
Crosnier C, Driancourt C, Raynaud N, Dhorne-Pollet S, Pollet N, Bernard O, Hadchouel M, Meunier-Rotival M. 1999. Mutations in JAGGED1 gene are predominantly sporadic in alagille syndrome. Gastroenterology 116:1141-1148.
-
(1999)
Gastroenterology
, vol.116
, pp. 1141-1148
-
-
Crosnier, C.1
Driancourt, C.2
Raynaud, N.3
Dhorne-Pollet, S.4
Pollet, N.5
Bernard, O.6
Hadchouel, M.7
Meunier-Rotival, M.8
-
22
-
-
0021905749
-
Mutation in human populations
-
Crow JF, Denniston C. 1985. Mutation in human populations. Adv Hum Genet 14:59-123.
-
(1985)
Adv Hum Genet
, vol.14
, pp. 59-123
-
-
Crow, J.F.1
Denniston, C.2
-
23
-
-
0034303523
-
The origins, patterns, and implications of human spontaneous mutation
-
Crow JE 2000a. The origins, patterns, and implications of human spontaneous mutation. Nat Rev Genet 1:40-47.
-
(2000)
Nat Rev Genet
, vol.1
, pp. 40-47
-
-
Crow, J.E.1
-
24
-
-
0034564103
-
A new study challenges the current belief of a high human male: Female mutation ratio
-
Crow JE 2000b. A new study challenges the current belief of a high human male: female mutation ratio. Trends in Genet 16:525-526.
-
(2000)
Trends in Genet
, vol.16
, pp. 525-526
-
-
Crow, J.E.1
-
25
-
-
0035167932
-
Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs
-
Dabora SL, Jozwiak S, Franz DN, Roberts PS, Nieto A, Chung J, Choy YS, Reeve MP, Thiele E, Egelhoff JC, Kasprzyk-Obara J, Domanska-Pakiela D, Kwiatkowski DJ. 2001. Mutational analysis in a cohort of 224 tuberous sclerosis patients indicates increased severity of TSC2, compared with TSC1, disease in multiple organs. Am J Hum Genet 68:64-80.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 64-80
-
-
Dabora, S.L.1
Jozwiak, S.2
Franz, D.N.3
Roberts, P.S.4
Nieto, A.5
Chung, J.6
Choy, Y.S.7
Reeve, M.P.8
Thiele, E.9
Egelhoff, J.C.10
Kasprzyk-Obara, J.11
Domanska-Pakiela, D.12
Kwiatkowski, D.J.13
-
26
-
-
84924646510
-
Bilateral polycystic disease of the kidneys: A follow up of two hundred and eighty-four patients and their families
-
Dalgaard OZ. 1957. Bilateral polycystic disease of the kidneys: a follow up of two hundred and eighty-four patients and their families Acta Med Scand 158(Suppl 328):1-255.
-
(1957)
Acta Med Scand
, vol.158
, Issue.SUPPL. 328
, pp. 1-255
-
-
Dalgaard, O.Z.1
-
27
-
-
0017407580
-
Studies of the aetiology of neonatal hepatitis and biliary atresia
-
Danks DM, Campbell PE, Jack I, Rogers J, Smith AL. 1977. Studies of the aetiology of neonatal hepatitis and biliary atresia. Arch Dis Child 52:360-367.
-
(1977)
Arch Dis Child
, vol.52
, pp. 360-367
-
-
Danks, D.M.1
Campbell, P.E.2
Jack, I.3
Rogers, J.4
Smith, A.L.5
-
28
-
-
0033989832
-
Neuromuscular disorders in childhood: A descriptive epidemiological study from western Sweden
-
Darin N, Tulinius M. 2000. Neuromuscular disorders in childhood: a descriptive epidemiological study from western Sweden. Neuromusc Disord 10:1-9.
-
(2000)
Neuromusc Disord
, vol.10
, pp. 1-9
-
-
Darin, N.1
Tulinius, M.2
-
31
-
-
19144362716
-
Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene
-
Dobbie Z, Spyçher M, Mary JL, Haner M, Guldenschuh I, Hurliman R, Amman R, Roth J, Muller H, Scott RJ. 1996. Correlation between the development of extracolonic manifestations in FAP patients and mutations beyond codon 1403 in the APC gene. J Med Genet 33:274-280.
-
(1996)
J Med Genet
, vol.33
, pp. 274-280
-
-
Dobbie, Z.1
Spyçher, M.2
Mary, J.L.3
Haner, M.4
Guldenschuh, I.5
Hurliman, R.6
Amman, R.7
Roth, J.8
Muller, H.9
Scott, R.J.10
-
32
-
-
0027244418
-
Segregation analysis of autosomaldominant polycystic kidney-disease
-
Dobin A, Kimberling WJ, Pettinger W, Baileywilson JE, Shugart YY, Gabow P. 1993. Segregation analysis of autosomaldominant polycystic kidney-disease. Genet Epidemiol 10:189-200.
-
(1993)
Genet Epidemiol
, vol.10
, pp. 189-200
-
-
Dobin, A.1
Kimberling, W.J.2
Pettinger, W.3
Baileywilson, J.E.4
Shugart, Y.Y.5
Gabow, P.6
-
33
-
-
0030976797
-
Mutations in the adrenoleukodystrophy gene
-
Dodd A, Rowland SA, Hawkes SLJ, Kennedy MA, Love DR. 1997. Mutations in the adrenoleukodystrophy gene. Hum Mutat 9:500-511.
-
(1997)
Hum Mutat
, vol.9
, pp. 500-511
-
-
Dodd, A.1
Rowland, S.A.2
Hawkes, S.L.J.3
Kennedy, M.A.4
Love, D.R.5
-
35
-
-
0028928490
-
Alagille syndrome: Family studies
-
Elmslie FV, Vivian AJ, Gardiner H, Hall C, Mowat AP, Winter RM. 1995. Alagille syndrome: family studies. J Med Genet 32:264-268.
-
(1995)
J Med Genet
, vol.32
, pp. 264-268
-
-
Elmslie, F.V.1
Vivian, A.J.2
Gardiner, H.3
Hall, C.4
Mowat, A.P.5
Winter, R.M.6
-
36
-
-
0034213873
-
Emery-Dreifuss muscular dystrophy: A 40 year retrospective
-
Emery AEH. 2000. Emery-Dreifuss muscular dystrophy: a 40 year retrospective. Neuromusc Disord 10:228-232.
-
(2000)
Neuromusc Disord
, vol.10
, pp. 228-232
-
-
Emery, A.E.H.1
-
37
-
-
0033924917
-
Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain
-
Fahsold R, Hoffmeyer S, Mischung C, Gille C, Ehlers C, Kucukceylan N, Abdel-Nour M, Gewies A, Peters H, Kaufmann D, Buske A, Tinschert S, Nurnberg P. 2000. Minor lesion mutational spectrum of the entire NF1 gene does not explain its high mutability but points to a functional domain upstream of the CAP-related domain. Am J Hum Genet 66:790-818.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 790-818
-
-
Fahsold, R.1
Hoffmeyer, S.2
Mischung, C.3
Gille, C.4
Ehlers, C.5
Kucukceylan, N.6
Abdel-Nour, M.7
Gewies, A.8
Peters, H.9
Kaufmann, D.10
Buske, A.11
Tinschert, S.12
Nurnberg, P.13
-
38
-
-
0035094729
-
Novel dystrophin mutations revealed by analysis of dystrophin mRNA: Alternative splicing supresses the phenotypic effect of a nonsense mutation
-
Fajkusova L, Lukas Z, Tvrdikova M, Kuhrova V, Hajek J, Fajkus J. 2001. Novel dystrophin mutations revealed by analysis of dystrophin mRNA: alternative splicing supresses the phenotypic effect of a nonsense mutation. Neuromusc Disords 11:133-138.
-
(2001)
Neuromusc Disords
, vol.11
, pp. 133-138
-
-
Fajkusova, L.1
Lukas, Z.2
Tvrdikova, M.3
Kuhrova, V.4
Hajek, J.5
Fajkus, J.6
-
39
-
-
0020400363
-
Primary immunodeficiency disorders in Sweden: Cases among children, 1974-1979
-
Fasth A. 1982. Primary immunodeficiency disorders in Sweden: cases among children, 1974-1979. J Clin Immunol 2:86-92.
-
(1982)
J Clin Immunol
, vol.2
, pp. 86-92
-
-
Fasth, A.1
-
41
-
-
0033983817
-
APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis
-
Ficari F, Cama A, Valanzano R, Curia MC, Palmirotta R, Aceto G, Esposito DL, Crognale S, Lombardi A, Messerini L, Mariani-Costantini R, Tonelli F, Battista P. 2000. APC gene mutations and colorectal adenomatosis in familial adenomatous polyposis. Brit J Cancer 82:348-353.
-
(2000)
Brit J Cancer
, vol.82
, pp. 348-353
-
-
Ficari, F.1
Cama, A.2
Valanzano, R.3
Curia, M.C.4
Palmirotta, R.5
Aceto, G.6
Esposito, D.L.7
Crognale, S.8
Lombardi, A.9
Messerini, L.10
Mariani-Costantini, R.11
Tonelli, F.12
Battista, P.13
-
42
-
-
0032901706
-
Seven novel mutations in the APC gene of Portugese families with familial adenomatous polyposis: Correlation with phenotype
-
Fidalgo PO, Maia LC, Cravo ML, Albuquerque CM, Suspiro A, Ramalho E, Nobre-Leitao C. 1999. Seven novel mutations in the APC gene of Portugese families with familial adenomatous polyposis: correlation with phenotype. Cancer Genet Cytogenet 111:152-156.
-
(1999)
Cancer Genet Cytogenet
, vol.111
, pp. 152-156
-
-
Fidalgo, P.O.1
Maia, L.C.2
Cravo, M.L.3
Albuquerque, C.M.4
Suspiro, A.5
Ramalho, E.6
Nobre-Leitao, C.7
-
43
-
-
0033751632
-
Severe combined immunodeficiencies (SCID)
-
Fischer A. 2000. Severe combined immunodeficiencies (SCID). Clin Exp Immunol 122:143-149.
-
(2000)
Clin Exp Immunol
, vol.122
, pp. 143-149
-
-
Fischer, A.1
-
44
-
-
0020517728
-
Retinoblastoma mutation rate in New Zealand and support for the 2-hit model
-
Fitzgerald PH, Stewart J, Suckling RD. 1983. Retinoblastoma mutation rate in New Zealand and support for the 2-hit model. Hum Genet 64:128-130.
-
(1983)
Hum Genet
, vol.64
, pp. 128-130
-
-
Fitzgerald, P.H.1
Stewart, J.2
Suckling, R.D.3
-
45
-
-
0035109023
-
Submicroscopic deletions of the APC gene: A frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning
-
Flintoff KJ, Sheridan E, Turner G, Chu CE, Taylor GR. 2001. Submicroscopic deletions of the APC gene: a frequent cause of familial adenomatous polyposis that may be overlooked by conventional mutation scanning. J Med Genet 38:129-132.
-
(2001)
J Med Genet
, vol.38
, pp. 129-132
-
-
Flintoff, K.J.1
Sheridan, E.2
Turner, G.3
Chu, C.E.4
Taylor, G.R.5
-
46
-
-
8544233486
-
Primary immunodeficiency syndrome in Spain: First report of the national registry in children and adults
-
Flori NM, Llambi JM, Boen TE, Borja SR, Casariego GF. 1997. Primary immunodeficiency syndrome in Spain: First report of the national registry in children and adults. J Clin Immunol 17:333-339.
-
(1997)
J Clin Immunol
, vol.17
, pp. 333-339
-
-
Flori, N.M.1
Llambi, J.M.2
Boen, T.E.3
Borja, S.R.4
Casariego, G.F.5
-
47
-
-
0035076731
-
Can APC: Mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families
-
Friedl W, Caspari R, Uhlhaas S, Lamberti C, Jungck M, Kadmon M, Wolf M, Fahnenstich J, Gebert J, Moslein G, Mangold E, Propping P 2001. Can APC: mutation analysis contribute to therapeutic decisions in familial adenomatous polyposis? Experience from 680 FAP families. Gut 48:515-521.
-
(2001)
Gut
, vol.48
, pp. 515-521
-
-
Friedl, W.1
Caspari, R.2
Uhlhaas, S.3
Lamberti, C.4
Jungck, M.5
Kadmon, M.6
Wolf, M.7
Fahnenstich, J.8
Gebert, J.9
Moslein, G.10
Mangold, E.11
Propping, P.12
-
48
-
-
0031744663
-
Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients
-
Froissart R, Maire I, Millat G, Cudry S, Birot AM, Bonnet V, Bouton O, Bozon D. 1998. Identification of iduronate sulfatase gene alterations in 70 unrelated Hunter patients. Clin Genet 53:362-368.
-
(1998)
Clin Genet
, vol.53
, pp. 362-368
-
-
Froissart, R.1
Maire, I.2
Millat, G.3
Cudry, S.4
Birot, A.M.5
Bonnet, V.6
Bouton, O.7
Bozon, D.8
-
49
-
-
0032928462
-
Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy
-
Funakoshi M, Tsuchiya Y, Arahata K. 1999. Emerin and cardiomyopathy in Emery-Dreifuss muscular dystrophy. Neuromusc Disord 9:108-114.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 108-114
-
-
Funakoshi, M.1
Tsuchiya, Y.2
Arahata, K.3
-
50
-
-
0032970571
-
Mutations of the VHL gene in sporadic renal cell carcinoma: Definition of a risk factor for VHL patients to develop an RCC
-
Gallou C, Joly D, Mejean A, Staroz F, Martin N, Tarlet G, Orfanelli MT, Bouvier R, Droz D, Chretien Y, Marechal JM, Richard S, Junien D, Beroud C. 1999. Mutations of the VHL gene in sporadic renal cell carcinoma: definition of a risk factor for VHL patients to develop an RCC. Hum Mutat 13:464-475.
-
(1999)
Hum Mutat
, vol.13
, pp. 464-475
-
-
Gallou, C.1
Joly, D.2
Mejean, A.3
Staroz, F.4
Martin, N.5
Tarlet, G.6
Orfanelli, M.T.7
Bouvier, R.8
Droz, D.9
Chretien, Y.10
Marechal, J.M.11
Richard, S.12
Junien, D.13
Beroud, C.14
-
51
-
-
0029020724
-
The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test
-
Gardner RJ, Bobrow M, Roberts RG. 1995. The identification of point mutations in Duchenne muscular dystrophy patients by using reverse-transcription PCR and the protein truncation test. Am J Hum Genet 57:311-320.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 311-320
-
-
Gardner, R.J.1
Bobrow, M.2
Roberts, R.G.3
-
52
-
-
0033513022
-
Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli
-
Gebert JF, Dupon C, Kadmon M, Hahn M, Herfarth C, von Knebel Doeberitz M, Schackert HK. 1999. Combined molecular and clinical approaches for the identification of families with familial adenomatous polyposis coli. Annals Surg 229:350-361.
-
(1999)
Annals Surg
, vol.229
, pp. 350-361
-
-
Gebert, J.F.1
Dupon, C.2
Kadmon, M.3
Hahn, M.4
Herfarth, C.5
Von Knebel Doeberitz, M.6
Schackert, H.K.7
-
53
-
-
0031841277
-
Haemophilia B: Database of point mutations and short additions and deletions. 8th ed.
-
Giannelli F, Green PM, Sommer SS, Poon MC, Ludwig M, Schwaab A, Reitsma PH, Goossens M, Yoshioka A, Figueiredo MS, Brownlee GG. 1998. Haemophilia B: database of point mutations and short additions and deletions. 8th ed. Nucl Acids Res 26:265-268.
-
(1998)
Nucl Acids Res
, vol.26
, pp. 265-268
-
-
Giannelli, F.1
Green, P.M.2
Sommer, S.S.3
Poon, M.C.4
Ludwig, M.5
Schwaab, A.6
Reitsma, P.H.7
Goossens, M.8
Yoshioka, A.9
Figueiredo, M.S.10
Brownlee, G.G.11
-
54
-
-
0033358737
-
Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B
-
Giannelli F, Anagnostopoulos T, Green PM. 1999. Mutation rates in humans. II. Sporadic mutation-specific rates and rate of detrimental human mutations inferred from hemophilia B. Am J Hum Genet 65:1580-1587.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1580-1587
-
-
Giannelli, F.1
Anagnostopoulos, T.2
Green, P.M.3
-
55
-
-
0032962869
-
Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: Evidence for phenotypic differences in cases with and without identified mutation
-
Giarola M, Stagi L, Presciuttini S, Mondini P, Radice MT, Sala P, Pierotti MA, Bertario L, Radice P. 1999. Screening for mutations of the APC gene in 66 Italian familial adenomatous polyposis patients: evidence for phenotypic differences in cases with and without identified mutation. Hum Mutat 13:116-123.
-
(1999)
Hum Mutat
, vol.13
, pp. 116-123
-
-
Giarola, M.1
Stagi, L.2
Presciuttini, S.3
Mondini, P.4
Radice, M.T.5
Sala, P.6
Pierotti, M.A.7
Bertario, L.8
Radice, P.9
-
57
-
-
0030030552
-
Mutation analysis in 20 patients with Hunter disease
-
Goldenfum SL, Young E, Michelakakis H, Tsagarakis S, Winchester B. 1996. Mutation analysis in 20 patients with Hunter disease. Hum Mutat 7:76-78.
-
(1996)
Hum Mutat
, vol.7
, pp. 76-78
-
-
Goldenfum, S.L.1
Young, E.2
Michelakakis, H.3
Tsagarakis, S.4
Winchester, B.5
-
58
-
-
0031752338
-
Hunter disease in the Spanish population: Molecular analysis in 31 families
-
Gort L, Chabas A, Coll MJ. 1998. Hunter disease in the Spanish population: molecular analysis in 31 families. J Inher Metab Dis 21:655-661.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 655-661
-
-
Gort, L.1
Chabas, A.2
Coll, M.J.3
-
59
-
-
0032808270
-
Update of the androgen receptor gene mutations database
-
Gottlieb B, Beitel LK, Lumbroso R, Pinsky L, Trifiro M. 1999. Update of the androgen receptor gene mutations database. Hum Mutat 14:103-114.
-
(1999)
Hum Mutat
, vol.14
, pp. 103-114
-
-
Gottlieb, B.1
Beitel, L.K.2
Lumbroso, R.3
Pinsky, L.4
Trifiro, M.5
-
60
-
-
0033358669
-
Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B
-
Green PM, Saad S, Lewis CM, Giannelli E 1999. Mutation rates in humans. I. Overall and sex-specific rates obtained from a population study of hemophilia B. Am J Hum Genet 65:1572-1579.
-
(1999)
Am J Hum Genet
, vol.65
, pp. 1572-1579
-
-
Green, P.M.1
Saad, S.2
Lewis, C.M.3
Giannelli, E.4
-
61
-
-
0032903663
-
Mutational analysis of PAX6: 16 Novel mutations including 5 missense mutations with a mild aniridia phenotype
-
Gronskov K, Rosenberg T, Sand A, Brondum-Nielsen K. 1999. Mutational analysis of PAX6: 16 novel mutations including 5 missense mutations with a mild aniridia phenotype. Eur J Hum Genet 7:274-286.
-
(1999)
Eur J Hum Genet
, vol.7
, pp. 274-286
-
-
Gronskov, K.1
Rosenberg, T.2
Sand, A.3
Brondum-Nielsen, K.4
-
62
-
-
0028943946
-
The size distribution of insertions and deletions in human and rodent pseudogenes suggests the logarithmic gap penalty for sequence alignment
-
Gu X, Li WH. 1995. The size distribution of insertions and deletions in human and rodent pseudogenes suggests the logarithmic gap penalty for sequence alignment. J Mol Evol 40:464-473.
-
(1995)
J Mol Evol
, vol.40
, pp. 464-473
-
-
Gu, X.1
Li, W.H.2
-
63
-
-
77951509701
-
The rate of spontaneous mutation of a human gene
-
Haldane JBS. 1935. The rate of spontaneous mutation of a human gene. J Genet 31:317-326.
-
(1935)
J Genet
, vol.31
, pp. 317-326
-
-
Haldane, J.B.S.1
-
64
-
-
0032881244
-
Chronic granulomatous disease in Japan: Incidence and natural history
-
Hasui M. 1999. Chronic granulomatous disease in Japan: Incidence and natural history. Pediatr Internat 41:589-593.
-
(1999)
Pediatr Internat
, vol.41
, pp. 589-593
-
-
Hasui, M.1
-
65
-
-
0030865925
-
Leukodystrophy incidence in Germany
-
Heim P, Claussen M, Hoffmann B, Conzelmann E, Gartner J, Harzer K, Hunneman DH, Kohler W, Kurlemann G, Kohlschutter A. 1997. Leukodystrophy incidence in Germany. Am J Med Genet 71:475-478.
-
(1997)
Am J Med Genet
, vol.71
, pp. 475-478
-
-
Heim, P.1
Claussen, M.2
Hoffmann, B.3
Conzelmann, E.4
Gartner, J.5
Harzer, K.6
Hunneman, D.H.7
Kohler, W.8
Kurlemann, G.9
Kohlschutter, A.10
-
66
-
-
0034535884
-
Cryptic von Hippel-Lindau disease: Germline mutations in patients with haemangioblastoma only
-
Hes FJ, McKee S, Taphoorn MJB, Rehal P, van der Luijt RB, McMahon R, van der Smagt JJ, Dow D, Zewald RA, Whittaker J, Lips CJM, MacDonald F, Pearson PL, Maher ER. 2000. Cryptic von Hippel-Lindau disease: germline mutations in patients with haemangioblastoma only. J Med Genet 37:939-943.
-
(2000)
J Med Genet
, vol.37
, pp. 939-943
-
-
Hes, F.J.1
McKee, S.2
Taphoorn, M.J.B.3
Rehal, P.4
Van der Luijt, R.B.5
McMahon, R.6
Van der Smagt, J.J.7
Dow, D.8
Zewald, R.A.9
Whittaker, J.10
Lips, C.J.M.11
MacDonald, F.12
Pearson, P.L.13
Maher, E.R.14
-
67
-
-
0035054158
-
Hematologically important mutations: X-linked chronic granulomatous disease (Second update)
-
Heyworth PG, Curnutte JT, Rae J, Noack D, Roos D, van Koppen E, Cross AR. 2001. Hematologically important mutations: X-linked chronic granulomatous disease (Second update). Blood Cells Molecules and Diseases 27:16-26.
-
(2001)
Blood Cells Molecules and Diseases
, vol.27
, pp. 16-26
-
-
Heyworth, P.G.1
Curnutte, J.T.2
Rae, J.3
Noack, D.4
Roos, D.5
Van Koppen, E.6
Cross, A.R.7
-
68
-
-
0031812217
-
Inherited and de novo androgen receptor gene mutations: Investigation of single-case families
-
Hiort O, Sinnecker GHG, Holterhus PM, Nitsche EM, Kruse K. 1998. Inherited and de novo androgen receptor gene mutations: investigation of single-case families. J Pediatr 132:939-943.
-
(1998)
J Pediatr
, vol.132
, pp. 939-943
-
-
Hiort, O.1
Sinnecker, G.H.G.2
Holterhus, P.M.3
Nitsche, E.M.4
Kruse, K.5
-
69
-
-
18544400057
-
Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 Unique mutations without correlation to clinical course
-
Holinski-Feder E, Weiss M, Brandau O, Jedele KB, Nore B, Backesjo CM, Vihinen M, Hubbard SR, Belohradsky BH, Smith CIE, Meindl A. 1998. Mutation screening of the BTK gene in 56 families with X-linked agammaglobulinemia (XLA): 47 unique mutations without correlation to clinical course. Pediatrics 101:276-284.
-
(1998)
Pediatrics
, vol.101
, pp. 276-284
-
-
Holinski-Feder, E.1
Weiss, M.2
Brandau, O.3
Jedele, K.B.4
Nore, B.5
Backesjo, C.M.6
Vihinen, M.7
Hubbard, S.R.8
Belohradsky, B.H.9
Smith, C.I.E.10
Meindl, A.11
-
71
-
-
0031963927
-
Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease)
-
Isogai K, Sukegawa K, Tomatsu S, Fukao T, Song XQ, Yamada Y, Fukuda S, Orii T, Kondo N. 1998. Mutation analysis in the iduronate-2-sulphatase gene in 43 Japanese patients with mucopolysaccharidosis type II (Hunter disease). J Inher Metab Dis 21:60-70.
-
(1998)
J Inher Metab Dis
, vol.21
, pp. 60-70
-
-
Isogai, K.1
Sukegawa, K.2
Tomatsu, S.3
Fukao, T.4
Song, X.Q.5
Yamada, Y.6
Fukuda, S.7
Orii, T.8
Kondo, N.9
-
72
-
-
0033365408
-
Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis
-
Jones AC, Shyamsundar MM, Thomas MW, Maynard J, Idziaszczyk S, Tomkins S, Sampson JR, Cheadle JP. 1999. Comprehensive mutation analysis of TSC1 and TSC2 and phenotypic correlations in 150 families with tuberous sclerosis. Am J Hum Genet 64:1305-1315.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 1305-1315
-
-
Jones, A.C.1
Shyamsundar, M.M.2
Thomas, M.W.3
Maynard, J.4
Idziaszczyk, S.5
Tomkins, S.6
Sampson, J.R.7
Cheadle, J.P.8
-
73
-
-
0034041626
-
Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry
-
Kanegane H, Tsukada S, Iwata T, Futatani T, Nomura K, Yamamoto J, Yoshida T, Agematsu K, Komiyama A, Miyawaki T 2000. Detection of Bruton's tyrosine kinase mutations in hypogammaglobulinaemic males registered as common variable immunodeficiency (CVID) in the Japanese Immunodeficiency Registry. Clin Exp Immunol 120:512-517.
-
(2000)
Clin Exp Immunol
, vol.120
, pp. 512-517
-
-
Kanegane, H.1
Tsukada, S.2
Iwata, T.3
Futatani, T.4
Nomura, K.5
Yamamoto, J.6
Yoshida, T.7
Agematsu, K.8
Komiyama, A.9
Miyawaki, T.10
-
74
-
-
0032438985
-
Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients
-
Karsten S, Voskoboeva E, Tishkanina S, Pettersson U, Krasnopolskaja X, Bondeson ML. 1998. Mutational spectrum of the iduronate-2-sulfatase (IDS) gene in 36 unrelated Russian MPS II patients. Hum Genet 103:732-735.
-
(1998)
Hum Genet
, vol.103
, pp. 732-735
-
-
Karsten, S.1
Voskoboeva, E.2
Tishkanina, S.3
Pettersson, U.4
Krasnopolskaja, X.5
Bondeson, M.L.6
-
75
-
-
0032795732
-
Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions
-
Karsten S, Voskoboeva E, Krasnopolskaja X, Bondeson ML. 1999. Novel type of genetic rearrangement in the iduronate-2-sulfatase (IDS) gene involving deletion, duplications, and inversions. Hum Mutat 14:471-476.
-
(1999)
Hum Mutat
, vol.14
, pp. 471-476
-
-
Karsten, S.1
Voskoboeva, E.2
Krasnopolskaja, X.3
Bondeson, M.L.4
-
76
-
-
0031804517
-
The factor VIII structure and mutation resource site: HAM-STeRS version 4
-
Kemball-Cook G, Tuddenham EGD, Wacey AI. 1998. The factor VIII structure and mutation resource site: HAM-STeRS version 4. Nucl Acids Res 26:216-219.
-
(1998)
Nucl Acids Res
, vol.26
, pp. 216-219
-
-
Kemball-Cook, G.1
Tuddenham, E.G.D.2
Wacey, A.I.3
-
77
-
-
0032513570
-
X-linked adrenoleukodystrophy: The Australasian experience
-
Kirk EPE, Fletcher JM, Sharp P, Carey B, Poulos A. 1998. X-linked adrenoleukodystrophy: the Australasian experience. Am J Med Genet 76:420-423.
-
(1998)
Am J Med Genet
, vol.76
, pp. 420-423
-
-
Kirk, E.P.E.1
Fletcher, J.M.2
Sharp, P.3
Carey, B.4
Poulos, A.5
-
78
-
-
0023737547
-
Deleterious mutations and the evolution of sexual reproduction
-
Kondrashov AS. 1988. Deleterious mutations and the evolution of sexual reproduction. Nature 336:435-440.
-
(1988)
Nature
, vol.336
, pp. 435-440
-
-
Kondrashov, A.S.1
-
79
-
-
7344234854
-
Measuring spontaneous deleterious mutation process
-
Kondrashov AS. 1998. Measuring spontaneous deleterious mutation process. Genetica 102/103, 183-197.
-
(1998)
Genetica
, vol.102-103
, pp. 183-197
-
-
Kondrashov, A.S.1
-
80
-
-
0033987778
-
Human gene mutation database: A biomedical information and research resoursce
-
Krawczak M, Ball EV, Fenton I, Stenson PD, Abeysinghe S, Thomas N, Cooper DN. 2000. Human gene mutation database: a biomedical information and research resoursce. Hum Mutat 15:45-51.
-
(2000)
Hum Mutat
, vol.15
, pp. 45-51
-
-
Krawczak, M.1
Ball, E.V.2
Fenton, I.3
Stenson, P.D.4
Abeysinghe, S.5
Thomas, N.6
Cooper, D.N.7
-
81
-
-
0343133942
-
Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described
-
Lachtermacher MBR, Seuanez HN, Moser AB, Moser HW, Smith KD. 2000. Determination of 30 X-linked adrenoleukodystrophy mutations, including 15 not previously described. Hum Mutat 15:348-353.
-
(2000)
Hum Mutat
, vol.15
, pp. 348-353
-
-
Lachtermacher, M.B.R.1
Seuanez, H.N.2
Moser, A.B.3
Moser, H.W.4
Smith, K.D.5
-
82
-
-
0034610337
-
3′ deletions cause aniridia by preventing PAX6 gene expression
-
Lauderdale J, Wilensky JS, Oliver ER, Walton DS, Glaser T 2000. 3′ deletions cause aniridia by preventing PAX6 gene expression. Proc Natl Acad Sci USA 97:13755-13759.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13755-13759
-
-
Lauderdale, J.1
Wilensky, J.S.2
Oliver, E.R.3
Walton, D.S.4
Glaser, T.5
-
83
-
-
0012471089
-
Emerin mutation linked to Emery-Dreifuss muscular dystrophy disrupts emerin binding to BAF
-
Lee KK, Gruenbaum Y, Wilson KL. 2000. Emerin mutation linked to Emery-Dreifuss muscular dystrophy disrupts emerin binding to BAF. Mol Biol Cell 11:(Suppl 22).
-
(2000)
Mol Biol Cell
, vol.11
, Issue.SUPPL. 22
-
-
Lee, K.K.1
Gruenbaum, Y.2
Wilson, K.L.3
-
84
-
-
0033855422
-
Estimating prevalence in single-gene kidney diseases progressing to renal failure
-
Levy M, Feingold J. 2000. Estimating prevalence in single-gene kidney diseases progressing to renal failure. Kidney Intern 58:925-943.
-
(2000)
Kidney Intern
, vol.58
, pp. 925-943
-
-
Levy, M.1
Feingold, J.2
-
85
-
-
0032933620
-
Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome)
-
Li P, Bellows AB, Thompson JN. 1999. Molecular basis of iduronate-2-sulphatase gene mutations in patients with mucopolysaccharidosis type II (Hunter syndrome) J Med Genet 36:21-27.
-
(1999)
J Med Genet
, vol.36
, pp. 21-27
-
-
Li, P.1
Bellows, A.B.2
Thompson, J.N.3
-
86
-
-
0034295375
-
Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations
-
Li X, Drost JB, Roberts S, Kasper C, Sommer SS. 2000. Factor IX mutations in South Africans and African Americans are compatible with primarily endogenous influences upon recent germline mutations. Hum Mutat 16:371-378.
-
(2000)
Hum Mutat
, vol.16
, pp. 371-378
-
-
Li, X.1
Drost, J.B.2
Roberts, S.3
Kasper, C.4
Sommer, S.S.5
-
87
-
-
0030747375
-
Molecular analysis in 23 Hunter disease families
-
Lissens W, Seneca S, Liebaers I. 1997. Molecular analysis in 23 Hunter disease families. J Inher Metab Dis 20:453-456.
-
(1997)
J Inher Metab Dis
, vol.20
, pp. 453-456
-
-
Lissens, W.1
Seneca, S.2
Liebaers, I.3
-
88
-
-
0033920931
-
The human factor IX gene as germline mutagen test: Samples from mainland China have the putatively endogenous pattern of mutation
-
Liu J-Z, Li X, Drost JB, Thorland EC, Liu Q, Lind T, Roberts S, Wang HY, Sommer SS. 2000. The human factor IX gene as germline mutagen test: samples from mainland China have the putatively endogenous pattern of mutation Hum Mutat 16:31-36.
-
(2000)
Hum Mutat
, vol.16
, pp. 31-36
-
-
Liu, J.-Z.1
Li, X.2
Drost, J.B.3
Thorland, E.C.4
Liu, Q.5
Lind, T.6
Roberts, S.7
Wang, H.Y.8
Sommer, S.S.9
-
89
-
-
0032882050
-
RB1 gene mutations in retinoblastoma
-
Lohmann DR. 1999. RB1 gene mutations in retinoblastoma. Hum Mutat 14:283-288.
-
(1999)
Hum Mutat
, vol.14
, pp. 283-288
-
-
Lohmann, D.R.1
-
90
-
-
0035875064
-
Recombination hotspot in NF1 microdeletion patients
-
Lopez-Correa C, Dorschner M, Brems H, Lazaro C, Clementi M, Upadhyaya M, Dooijes D, Moog U, Kehrer-Sawatzki H, Rutkowski JL, Fryns JP, Marynen P, Stephens K, Legius E. 2001. Recombination hotspot in NF1 microdeletion patients. Hum Molec Genet 10:1387-1392.
-
(2001)
Hum Molec Genet
, vol.10
, pp. 1387-1392
-
-
Lopez-Correa, C.1
Dorschner, M.2
Brems, H.3
Lazaro, C.4
Clementi, M.5
Upadhyaya, M.6
Dooijes, D.7
Moog, U.8
Kehrer-Sawatzki, H.9
Rutkowski, J.L.10
Fryns, J.P.11
Marynen, P.12
Stephens, K.13
Legius, E.14
-
91
-
-
0031801550
-
A new set of primers for mutation analysis of the human PAX6 gene
-
Love J, Axton R, Churchill A, van Heyningen V, Hanson I. 1998. A new set of primers for mutation analysis of the human PAX6 gene. Hum Mutat 12:128-134.
-
(1998)
Hum Mutat
, vol.12
, pp. 128-134
-
-
Love, J.1
Axton, R.2
Churchill, A.3
Van Heyningen, V.4
Hanson, I.5
-
92
-
-
19144371868
-
A genetic register for von Hippel-Lindau disease
-
Maddock IR, Moran A, Maher ER, Teare MD, Norman A, Payne SJ, Whitehouse R, Dodd C, Lavin M, Hartley N, Super M, Evans DGR. 1996. A genetic register for von Hippel-Lindau disease. J Med Genet 33:120-127.
-
(1996)
J Med Genet
, vol.33
, pp. 120-127
-
-
Maddock, I.R.1
Moran, A.2
Maher, E.R.3
Teare, M.D.4
Norman, A.5
Payne, S.J.6
Whitehouse, R.7
Dodd, C.8
Lavin, M.9
Hartley, N.10
Super, M.11
Evans, D.G.R.12
-
93
-
-
0025741681
-
Von Hippel-Lindau disease: A genetic study
-
Maher ER, Iselius L, Yates JRW, Littler M, Benjamin C, Harris R, Sampson J, Williams A, Ferguson-Smith MA, Morton N. 1991. Von Hippel-Lindau disease: a genetic study. J Med Genet 28:443-447.
-
(1991)
J Med Genet
, vol.28
, pp. 443-447
-
-
Maher, E.R.1
Iselius, L.2
Yates, J.R.W.3
Littler, M.4
Benjamin, C.5
Harris, R.6
Sampson, J.7
Williams, A.8
Ferguson-Smith, M.A.9
Morton, N.10
-
94
-
-
0032483028
-
Evolutionary parameters of the transcribed mammalian genome: An analysis of 2,820 orthologous rodent and human sequences
-
Makalowski W, Boguski MS. 1998. Evolutionary parameters of the transcribed mammalian genome: an analysis of 2,820 orthologous rodent and human sequences. Proc Natl Acad Sci USA 95:9407-9412.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 9407-9412
-
-
Makalowski, W.1
Boguski, M.S.2
-
95
-
-
0000831928
-
Prevalence of primary hypogammaglobulinaemia in Northern Ireland
-
McCluskey DR, Boyd NAM. 2000. Prevalence of primary hypogammaglobulinaemia in Northern Ireland. Proc Roy Col Phys Edinburgh 30:191-194.
-
(2000)
Proc Roy Col Phys Edinburgh
, vol.30
, pp. 191-194
-
-
McCluskey, D.R.1
Boyd, N.A.M.2
-
96
-
-
0034648504
-
Genotype spectrum of ornithine transcarbamylase deficiency: Correlation with the clinical and biochemical phenotype
-
McCullough BA, Yudkoff M, Batshaw ML, Wilson JR, Raper SE, Tuchman M. 2000. Genotype spectrum of ornithine transcarbamylase deficiency: correlation with the clinical and biochemical phenotype. Am J Med Genet 93:313-319.
-
(2000)
Am J Med Genet
, vol.93
, pp. 313-319
-
-
McCullough, B.A.1
Yudkoff, M.2
Batshaw, M.L.3
Wilson, J.R.4
Raper, S.E.5
Tuchman, M.6
-
97
-
-
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, Beysen D, Vandenbroucke I, Van Roy N, Speleman F, De Paepe A. 2000. Exhaustive mutation analysis of the NF1 gene allows identification of 95% of mutations and reveals a high frequency of unusual splicing defects. Hum Mutat 15:541-555.
-
(2000)
Hum Mutat
, vol.15
, pp. 541-555
-
-
Messiaen, L.M.1
Callens, T.2
Mortier, G.3
Beysen, D.4
Vandenbroucke, I.5
Van Roy, N.6
Speleman, F.7
De Paepe, A.8
-
98
-
-
0031468061
-
Inversion mutation as a major cause of severe hemophilia A in Italian patients
-
Mori PG, Caprino D, Bicocchi MP, Valetto A, Bottini F, Aquila M. 1997. Inversion mutation as a major cause of severe hemophilia A in Italian patients Haematologica 82:75-76.
-
(1997)
Haematologica
, vol.82
, pp. 75-76
-
-
Mori, P.G.1
Caprino, D.2
Bicocchi, M.P.3
Valetto, A.4
Bottini, F.5
Aquila, M.6
-
99
-
-
0034136824
-
X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia
-
Moschese V, Orlandi P, Plebani A, Arvanitidis K, Fiorini M, Speletas M, Mella P, Ritis K, Sideras P, Finocchi A, Livadiotti S, Rossi P. 2000. X-chromosome inactivation and mutation pattern in the Bruton's tyrosine kinase gene in patients with X-linked agammaglobulinemia. Molec Medicine 6:104-113.
-
(2000)
Molec Medicine
, vol.6
, pp. 104-113
-
-
Moschese, V.1
Orlandi, P.2
Plebani, A.3
Arvanitidis, K.4
Fiorini, M.5
Speletas, M.6
Mella, P.7
Ritis, K.8
Sideras, P.9
Finocchi, A.10
Livadiotti, S.11
Rossi, P.12
-
100
-
-
0033828761
-
Estimate of the mutation rate per nucleotide in humans
-
Nachman MW, Crowell SL. 2000. Estimate of the mutation rate per nucleotide in humans. Genetics 156:297-304.
-
(2000)
Genetics
, vol.156
, pp. 297-304
-
-
Nachman, M.W.1
Crowell, S.L.2
-
101
-
-
0025907503
-
Estimated frequency of urea cycle enzymopathies in Japan
-
Nagata N, Matsuda I, Oyanagi K. 1991. Estimated frequency of urea cycle enzymopathies in Japan. Am J Med Genet 39:228-229.
-
(1991)
Am J Med Genet
, vol.39
, pp. 228-229
-
-
Nagata, N.1
Matsuda, I.2
Oyanagi, K.3
-
102
-
-
0031447880
-
Incidence of the mucopolysaccharidoses in Northern Ireland
-
Nelson J. 1997. Incidence of the mucopolysaccharidoses in Northern Ireland. Hum Genet 101:355-358.
-
(1997)
Hum Genet
, vol.101
, pp. 355-358
-
-
Nelson, J.1
-
103
-
-
0032989201
-
Mutation analysis in Emery-Dreifuss muscular dystrophy
-
Nevo Y, Al-Lozi M, Parsadanian AS, Elliott JL, Connolly AM, Pestronk A. 1999. Mutation analysis in Emery-Dreifuss muscular dystrophy. Pediatr Neurol 21:456-459.
-
(1999)
Pediatr Neurol
, vol.21
, pp. 456-459
-
-
Nevo, Y.1
Al-Lozi, M.2
Parsadanian, A.S.3
Elliott, J.L.4
Connolly, A.M.5
Pestronk, A.6
-
104
-
-
0034093108
-
Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency
-
Niemela JE, Puck JM, Fischer RE, Fleisher TA, Hsu AP. 2000. Efficient detection of thirty-seven new IL2RG mutations in human X-linked severe combined immunodeficiency. Clin Immunol 95:33-38.
-
(2000)
Clin Immunol
, vol.95
, pp. 33-38
-
-
Niemela, J.E.1
Puck, J.M.2
Fischer, R.E.3
Fleisher, T.A.4
Hsu, A.P.5
-
105
-
-
0032726851
-
Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis
-
Niida Y, Lawrence-Smith N, Banwell A, Hammer E, Lewis J, Beauchamp RL, Sims K, Ramesh V, Ozelius L. 1999. Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis. Hum Mutat 14:412-422.
-
(1999)
Hum Mutat
, vol.14
, pp. 412-422
-
-
Niida, Y.1
Lawrence-Smith, N.2
Banwell, A.3
Hammer, E.4
Lewis, J.5
Beauchamp, R.L.6
Sims, K.7
Ramesh, V.8
Ozelius, L.9
-
106
-
-
0019512572
-
Frequency of tuberous sclerosis in San-In district (Japan) and birth weight of patients with tuberous sclerosis
-
Ohno K, Takeshita K, Arima M. 1981. Frequency of tuberous sclerosis in San-In district (Japan) and birth weight of patients with tuberous sclerosis. Brain Dev 3:57-64.
-
(1981)
Brain Dev
, vol.3
, pp. 57-64
-
-
Ohno, K.1
Takeshita, K.2
Arima, M.3
-
107
-
-
0035073619
-
Mutation profiling in haemophilia A
-
Oldenburg J. 2001. Mutation profiling in haemophilia A. Thromb Haemost 85:577-579.
-
(2001)
Thromb Haemost
, vol.85
, pp. 577-579
-
-
Oldenburg, J.1
-
108
-
-
0035969936
-
Evaluation of DHPLC in the analysis of hemophilia A
-
Oldenburg J, Ivaskevicius V, Rost S, Fregin A, White K, Holinski-Feder E, Muller CR, Weber BHF. 2001. Evaluation of DHPLC in the analysis of hemophilia A. J Biochem Biophys Methods 47:39-51.
-
(2001)
J Biochem Biophys Methods
, vol.47
, pp. 39-51
-
-
Oldenburg, J.1
Ivaskevicius, V.2
Rost, S.3
Fregin, A.4
White, K.5
Holinski-Feder, E.6
Muller, C.R.7
Weber, B.H.F.8
-
109
-
-
0035058360
-
Evolution of genome size: New approaches to an old problem
-
Petrov DA. 2001. Evolution of genome size: new approaches to an old problem. Trends in Genet 17:23-28.
-
(2001)
Trends in Genet
, vol.17
, pp. 23-28
-
-
Petrov, D.A.1
-
110
-
-
0033802011
-
Thirteen novel mutations of the replicated region of PKD1 in an Asian population
-
Phakdeekitcharoen B, Watnick TJ, Ahn C, Whang DY, Burkhart B, Germino GG. 2000. Thirteen novel mutations of the replicated region of PKD1 in an Asian population. Kidney Intern 58:1400-1412.
-
(2000)
Kidney Intern
, vol.58
, pp. 1400-1412
-
-
Phakdeekitcharoen, B.1
Watnick, T.J.2
Ahn, C.3
Whang, D.Y.4
Burkhart, B.5
Germino, G.G.6
-
111
-
-
0032947835
-
Molecular analysis of the APC gene in 205 families: Extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
-
Ponz de Leon M, Benatti P, Cacciatore A, Sassatelli R, Bertoni G, Sabadini G, Varesco L, Wallis YL, Morton DG, McKeown CM, Macdonald E 1999a. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 36:14-20.
-
(1999)
J Med Genet
, vol.36
, pp. 14-20
-
-
Ponz de Leon, M.1
Benatti, P.2
Cacciatore, A.3
Sassatelli, R.4
Bertoni, G.5
Sabadini, G.6
Varesco, L.7
Wallis, Y.L.8
Morton, D.G.9
McKeown, C.M.10
Macdonald, E.11
-
112
-
-
0033452370
-
Clinical features and genotype-phenotype correlations in 41 Italian families with Adenomatosis Coli
-
Ponz de Leon M, Benatti P, Percesepe A, Cacciatore A, Sassatelli R, Bertoni G, Sabadini G, Varesco L, Gismondi V, Mareni C, Montera M, Di Gregorio C, Landi P, Roncucci L. 1999b. Clinical features and genotype-phenotype correlations in 41 Italian families with Adenomatosis Coli. Italian Journal of Gastroenterology and Hepatology 31:850-860.
-
(1999)
Italian Journal of Gastroenterology and Hepatology
, vol.31
, pp. 850-860
-
-
Ponz de Leon, M.1
Benatti, P.2
Percesepe, A.3
Cacciatore, A.4
Sassatelli, R.5
Bertoni, G.6
Sabadini, G.7
Varesco, L.8
Gismondi, V.9
Mareni, C.10
Montera, M.11
Di Gregorio, C.12
Landi, P.13
Roncucci, L.14
-
113
-
-
0032780351
-
The frequency of lysosomal storage diseases in The Netherlands
-
Poorthuis BJHM, Wevers RA, Kleijer WJ, Groener JEM, de Jong JGN, van Weely S, Niezen-Koning KE, van Diggelen OP. 1999. The frequency of lysosomal storage diseases in The Netherlands. Hum Genet 105:151-156.
-
(1999)
Hum Genet
, vol.105
, pp. 151-156
-
-
Poorthuis, B.J.H.M.1
Wevers, R.A.2
Kleijer, W.J.3
Groener, J.E.M.4
De Jong, J.G.N.5
Van Weely, S.6
Niezen-Koning, K.E.7
Van Diggelen, O.P.8
-
114
-
-
0033865256
-
Epidemiology of neurofibromatosis type 1 (NFl) in northern Finland
-
Poyhonen M, Kytola S, Leisti J. 2000. Epidemiology of neurofibromatosis type 1 (NFl) in northern Finland. J Med Genet 37:632-636.
-
(2000)
J Med Genet
, vol.37
, pp. 632-636
-
-
Poyhonen, M.1
Kytola, S.2
Leisti, J.3
-
116
-
-
0028789039
-
Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene
-
Richards FM, Payne SJ, Zbar B, Affara NA, Fergusonsmith MA, Maher ER. 1995. Molecular analysis of de novo germline mutations in the von Hippel-Lindau disease gene. Hum Mol Genet 4:2139-2143.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 2139-2143
-
-
Richards, F.M.1
Payne, S.J.2
Zbar, B.3
Affara, N.A.4
Fergusonsmith, M.A.5
Maher, E.R.6
-
117
-
-
0035171856
-
Mutation analysis of the entire PKD1 gene: Genetic and diagnostic implications
-
Rossetti S, Strmecki L, Gamble V, Burton S, Sneddon V, Peral B, Roy S, Bakkaloglu A, Komel R, Winearls CG, Harris PC. 2001. Mutation analysis of the entire PKD1 gene: genetic and diagnostic implications. Am J Hum Genet 68:46-63.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 46-63
-
-
Rossetti, S.1
Strmecki, L.2
Gamble, V.3
Burton, S.4
Sneddon, V.5
Peral, B.6
Roy, S.7
Bakkaloglu, A.8
Komel, R.9
Winearls, C.G.10
Harris, P.C.11
-
118
-
-
0032513549
-
X-linked adrenoleukodystrophy: Phenotype distribution and expression of ALDP in Spanish kindreds
-
Ruiz M, Coll MJ, Pampols T, Giros M. 1998. X-linked adrenoleukodystrophy: phenotype distribution and expression of ALDP in Spanish kindreds. Am J Med Genet 76:424-427.
-
(1998)
Am J Med Genet
, vol.76
, pp. 424-427
-
-
Ruiz, M.1
Coll, M.J.2
Pampols, T.3
Giros, M.4
-
119
-
-
0024209085
-
Primary immunodeficiencies in Switzerland: 1st report of the national registry in adults and children
-
Ryser O, Morell A, Hitzig WH. 1988. Primary immunodeficiencies in Switzerland: 1st report of the national registry in adults and children. J Clin Immunol 8:479-485.
-
(1988)
J Clin Immunol
, vol.8
, pp. 479-485
-
-
Ryser, O.1
Morell, A.2
Hitzig, W.H.3
-
120
-
-
0024528058
-
Genetic aspects of tuberous sclerosis in the West of Scotland
-
Sampson JR, Scahill SJ, Stephenson JBP, Mann L, Connor JM. 1989. Genetic aspects of tuberous sclerosis in the West of Scotland. J Med Genet 26:28-31.
-
(1989)
J Med Genet
, vol.26
, pp. 28-31
-
-
Sampson, J.R.1
Scahill, S.J.2
Stephenson, J.B.P.3
Mann, L.4
Connor, J.M.5
-
121
-
-
0031671781
-
Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: A 1998 perspective
-
Sankaranarayanan K. 1998. Ionizing radiation and genetic risks IX. Estimates of the frequencies of mendelian diseases and spontaneous mutation rates in human populations: a 1998 perspective. Mutat Res 411:129-178.
-
(1998)
Mutat Res
, vol.411
, pp. 129-178
-
-
Sankaranarayanan, K.1
-
122
-
-
0033909888
-
Mosaicism in von Hippel-Lindau disease: Lessons from kindreds with germline mutations identified in offspring with mosaic parents
-
Sgambati MT, Stolle C, Choyke PL, Walther MM, Zbar B, Linehan WM, Glenn GM. 2000. Mosaicism in von Hippel-Lindau disease: lessons from kindreds with germline mutations identified in offspring with mosaic parents. Am J Hum Genet 66:84-91.
-
(2000)
Am J Hum Genet
, vol.66
, pp. 84-91
-
-
Sgambati, M.T.1
Stolle, C.2
Choyke, P.L.3
Walther, M.M.4
Zbar, B.5
Linehan, W.M.6
Glenn, G.M.7
-
124
-
-
0032865972
-
Epidemiology of dystrophinopathies in North-West Tuscany: A molecular genetics-based revisitation
-
Siciliano G, Tessa A, Renna M, Manca ML, Mancuso M, Murri L. 1999. Epidemiology of dystrophinopathies in North-West Tuscany: a molecular genetics-based revisitation. Clin Genet 56:51-58.
-
(1999)
Clin Genet
, vol.56
, pp. 51-58
-
-
Siciliano, G.1
Tessa, A.2
Renna, M.3
Manca, M.L.4
Mancuso, M.5
Murri, L.6
-
125
-
-
0035011652
-
Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: Carrier detection and prenatal diagnosis
-
Soares RPS, Chamone DAF, Bydlowski SP. 2001. Factor VIII gene inversions and polymorphisms in Brazilian patients with haemophilia A: carrier detection and prenatal diagnosis. Haemophilia 7:299-305.
-
(2001)
Haemophilia
, vol.7
, pp. 299-305
-
-
Soares, R.P.S.1
Chamone, D.A.F.2
Bydlowski, S.P.3
-
126
-
-
0028960841
-
Recent human germ-line mutation: Inferences from patients with hemophilia B
-
Sommer SS. 1995. Recent human germ-line mutation: inferences from patients with hemophilia B. Trends in Genet 11:141-147.
-
(1995)
Trends in Genet
, vol.11
, pp. 141-147
-
-
Sommer, S.S.1
-
127
-
-
0031785486
-
Occurrence of hemophilia in the United States
-
Soucie JM, Evatt B, Jackson D. 1998. Occurrence of hemophilia in the United States. Am J Hematol 59:288-294.
-
(1998)
Am J Hematol
, vol.59
, pp. 288-294
-
-
Soucie, J.M.1
Evatt, B.2
Jackson, D.3
-
128
-
-
0035173811
-
Jagged1 mutations in Alagille syndrome
-
Spinner NB, Colliton RP, Crosnier C, Krantz ID, Hadchouel M, Meunier-Rotival M. 2001. Jagged1 mutations in Alagille syndrome. Hum Mutat 17:18-33.
-
(2001)
Hum Mutat
, vol.17
, pp. 18-33
-
-
Spinner, N.B.1
Colliton, R.P.2
Crosnier, C.3
Krantz, I.D.4
Hadchouel, M.5
Meunier-Rotival, M.6
-
129
-
-
0027525387
-
Severe combined immunodeficiency: A retrospective single-center study of clinical presentation and outcome in 117 patients
-
Stephan JL, Vlekova V, Ledeist F, Blanche S, Donadieu J, Desaintbasile G, Durandy A, Griscelli C, Fischer A. 1993. Severe combined immunodeficiency: a retrospective single-center study of clinical presentation and outcome in 117 patients. J Pediatr 123:564-572.
-
(1993)
J Pediatr
, vol.123
, pp. 564-572
-
-
Stephan, J.L.1
Vlekova, V.2
Ledeist, F.3
Blanche, S.4
Donadieu, J.5
Desaintbasile, G.6
Durandy, A.7
Griscelli, C.8
Fischer, A.9
-
130
-
-
7844234770
-
Improved detection of germline mutations in the von Hippel Lindau disease tumor suppressor gene
-
Stolle C, Glenn G, Zbar B, Humphrey JS, Choyke P, Walther M, Pack S, Hurley K, Andrey C, Klausner R, Linehan WM. 1998. Improved detection of germline mutations in the von Hippel Lindau disease tumor suppressor gene. Hum Mutat 12:417-423.
-
(1998)
Hum Mutat
, vol.12
, pp. 417-423
-
-
Stolle, C.1
Glenn, G.2
Zbar, B.3
Humphrey, J.S.4
Choyke, P.5
Walther, M.6
Pack, S.7
Hurley, K.8
Andrey, C.9
Klausner, R.10
Linehan, W.M.11
-
132
-
-
0034099230
-
Genomic rearrangements of the APC tumor-supressor gene in familial adenomatous polyposis
-
Su LK, Steinbach G, Sawyer JC, Hindi M, Ward PA, Lynch PM. 2000. Genomic rearrangements of the APC tumor-supressor gene in familial adenomatous polyposis. Hum Genet 106:101-107.
-
(2000)
Hum Genet
, vol.106
, pp. 101-107
-
-
Su, L.K.1
Steinbach, G.2
Sawyer, J.C.3
Hindi, M.4
Ward, P.A.5
Lynch, P.M.6
-
133
-
-
0035869223
-
Prediction of deleterious human alleles
-
Sunyaev S, Ramensky V, Koch I, Lathe III W, Kondrashov AS, Bork P. 2001. Prediction of deleterious human alleles. Hum Mol Genet 10:591-597.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 591-597
-
-
Sunyaev, S.1
Ramensky, V.2
Koch, I.3
Lathe W. III4
Kondrashov, A.S.5
Bork, P.6
-
134
-
-
0028966029
-
Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency
-
Tuchman M, Matsuda I, Munnich A, Malcolm S, Straumieks S, Briede T 1995. Proportions of spontaneous mutations in males and females with ornithine transcarbamylase deficiency. Am J Med Genet 55:67-70.
-
(1995)
Am J Med Genet
, vol.55
, pp. 67-70
-
-
Tuchman, M.1
Matsuda, I.2
Munnich, A.3
Malcolm, S.4
Straumieks, S.5
Briede, T.6
-
135
-
-
0031900882
-
Mutation analysis of the dystrophin gene in southern French DMD or BMD families: From Southern blot to protein truncation test
-
Tuffery S, Chambert S, Bareil C, Sarda P, Coubes C, Echenne B, Demaille J, Claustres M. 1998. Mutation analysis of the dystrophin gene in southern French DMD or BMD families: from Southern blot to protein truncation test. Hum Genet 102:334-342.
-
(1998)
Hum Genet
, vol.102
, pp. 334-342
-
-
Tuffery, S.1
Chambert, S.2
Bareil, C.3
Sarda, P.4
Coubes, C.5
Echenne, B.6
Demaille, J.7
Claustres, M.8
-
136
-
-
0032756947
-
Point mutations in the dystrophin gene: Evidence for frequent use of cryptic splice sites as a result of splicing defects
-
Tuffery-Giraud S, Chambert S, Demaille J, Claustres M. 1999. Point mutations in the dystrophin gene: evidence for frequent use of cryptic splice sites as a result of splicing defects. Hum Mutat 14:359-368.
-
(1999)
Hum Mutat
, vol.14
, pp. 359-368
-
-
Tuffery-Giraud, S.1
Chambert, S.2
Demaille, J.3
Claustres, M.4
-
137
-
-
0031664386
-
Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease)
-
Vafiadaki E, Cooper A, Heptinstall LE, Hatton CE, Thornley M, Wraith JE. 1998. Mutation analysis in 57 unrelated patients with MPS II (Hunter's disease). Arch Dis Childhood 79:237-241.
-
(1998)
Arch Dis Childhood
, vol.79
, pp. 237-241
-
-
Vafiadaki, E.1
Cooper, A.2
Heptinstall, L.E.3
Hatton, C.E.4
Thornley, M.5
Wraith, J.E.6
-
138
-
-
16944362068
-
Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 Germline mutations identified by DGGE, PTT, and Southern analysis
-
van der Luijt RB, Meera Khan P, Vasen HFA, Tops CMJ, van Leeuwen-Cornelisse ISJ, Wijnen JT, van der Klift HM, Plug RJ, Griffioen G, Fodde R. 1997. Molecular analysis of the APC gene in 105 Dutch kindreds with familial adenomatous polyposis: 67 germline mutations identified by DGGE, PTT, and Southern analysis. Hum Mutat 9:7-16.
-
(1997)
Hum Mutat
, vol.9
, pp. 7-16
-
-
Van der Luijt, R.B.1
Meera Khan, P.2
Vasen, H.F.A.3
Tops, C.M.J.4
Van Leeuwen-Cornelisse, I.S.J.5
Wijnen, J.T.6
Van der Klift, H.M.7
Plug, R.J.8
Griffioen, G.9
Fodde, R.10
-
139
-
-
0026580188
-
Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands
-
van Essen AJ, Busch HFM, Temeerman GJ, Tenkate LP. 1992. Birth and population prevalence of Duchenne muscular dystrophy in the Netherlands. Hum Genet 88:258-266.
-
(1992)
Hum Genet
, vol.88
, pp. 258-266
-
-
Van Essen, A.J.1
Busch, H.F.M.2
Temeerman, G.J.3
Tenkate, L.P.4
-
140
-
-
0033058967
-
Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia
-
Vihinen M, Kwan SP, Lester T, Ochs HD, Resnick I, Valiaho J, Conley ME, Smith CIE. 1999. Mutations of the human BTK gene coding for Bruton tyrosine kinase in X-linked agammaglobulinemia. Hum Mutat 13:280-285.
-
(1999)
Hum Mutat
, vol.13
, pp. 280-285
-
-
Vihinen, M.1
Kwan, S.P.2
Lester, T.3
Ochs, H.D.4
Resnick, I.5
Valiaho, J.6
Conley, M.E.7
Smith, C.I.E.8
-
141
-
-
0016418651
-
Spontaneous mutation in man
-
Vogel F, Rathenberg R. 1975. Spontaneous mutation in man. Adv Hum Genet 5:223-318.
-
(1975)
Adv Hum Genet
, vol.5
, pp. 223-318
-
-
Vogel, F.1
Rathenberg, R.2
-
142
-
-
2142797295
-
Mutation pattern in Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia
-
Vorechovsky I, Luo LP, Hertz JM, Froland SS, Klemola T, Fiorini M, Quinti I, Paganelli R, Ozsahin H, Hammarstrom L, Webster ADB, Smith CIE. 1997. Mutation pattern in Bruton's tyrosine kinase gene in 26 unrelated patients with X-linked agammaglobulinemia. Hum Mutat 9:418-425.
-
(1997)
Hum Mutat
, vol.9
, pp. 418-425
-
-
Vorechovsky, I.1
Luo, L.P.2
Hertz, J.M.3
Froland, S.S.4
Klemola, T.5
Fiorini, M.6
Quinti, I.7
Paganelli, R.8
Ozsahin, H.9
Hammarstrom, L.10
Webster, A.D.B.11
Smith, C.I.E.12
-
143
-
-
0032947835
-
Molecular analysis of the APC gene in 205 families: Extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition
-
Wallis YL, Morton DG, McKeown CM, Macdonald F. 1999. Molecular analysis of the APC gene in 205 families: extended genotype-phenotype correlations in FAP and evidence for the role of APC amino acid changes in colorectal cancer predisposition. J Med Genet 36:14-20.
-
(1999)
J Med Genet
, vol.36
, pp. 14-20
-
-
Wallis, Y.L.1
Morton, D.G.2
McKeown, C.M.3
Macdonald, F.4
-
144
-
-
0031292263
-
Dystrophin point mutation screening using a multiplexed protein truncation test
-
Whittock NV, Roberts RG, Mathew CG, Abbs SJ. 1997. Dystrophin point mutation screening using a multiplexed protein truncation test. Genet Test 1:115-123.
-
(1997)
Genet Test
, vol.1
, pp. 115-123
-
-
Whittock, N.V.1
Roberts, R.G.2
Mathew, C.G.3
Abbs, S.J.4
-
145
-
-
0034687371
-
The proteins of linked genes evolve at similar rates
-
Williams EJB, Hurst LD. 2000. The proteins of linked genes evolve at similar rates. Nature 407:900-903.
-
(2000)
Nature
, vol.407
, pp. 900-903
-
-
Williams, E.J.B.1
Hurst, L.D.2
-
146
-
-
0034040532
-
Chronic granulomatous disease: Report on a national registry of 368 patients
-
Winkelstein JA, Marino MC, Johnston RB, Boyle J, Curnutte J, Gallin JI, Malech HL, Holland SM, Ochs H, Quie P, Buckley RH, Foster CB, Chanock SJ, Dickler H. 2000. Chronic granulomatous disease: report on a national registry of 368 patients. Medicine 79:155-169.
-
(2000)
Medicine
, vol.79
, pp. 155-169
-
-
Winkelstein, J.A.1
Marino, M.C.2
Johnston, R.B.3
Boyle, J.4
Curnutte, J.5
Gallin, J.I.6
Malech, H.L.7
Holland, S.M.8
Ochs, H.9
Quie, P.10
Buckley, R.H.11
Foster, C.B.12
Chanock, S.J.13
Dickler, H.14
-
147
-
-
0032408024
-
Analysis of aniridia patients for mutations in the PAX6 gene
-
Wolf M, Zabel B, Lorenz B, Blankenagel A, Ghorbani MB, Schwenn O, Wildhardt G. 1998a. Analysis of aniridia patients for mutations in the PAX6 gene. Ophthalmologe 95:828-830.
-
(1998)
Ophthalmologe
, vol.95
, pp. 828-830
-
-
Wolf, M.1
Zabel, B.2
Lorenz, B.3
Blankenagel, A.4
Ghorbani, M.B.5
Schwenn, O.6
Wildhardt, G.7
-
148
-
-
0031670391
-
Ten novel mutations found in Aniridia
-
Wolf MTF, Lorenz B, Winterpacht A, Drechsler M, Schumacher V, Royer-Pokora B, Blankenagel A, Zabel B, Wildhardt G. 1998b. Ten novel mutations found in Aniridia. Hum Mutat 12:304-313.
-
(1998)
Hum Mutat
, vol.12
, pp. 304-313
-
-
Wolf, M.T.F.1
Lorenz, B.2
Winterpacht, A.3
Drechsler, M.4
Schumacher, V.5
Royer-Pokora, B.6
Blankenagel, A.7
Zabel, B.8
Wildhardt, G.9
-
149
-
-
0345722734
-
Germline mutations of the APC gene in Korean familial adenomatous polyposis patients
-
Won YJ, Park KJ, Kwon HJ, Lee JH, Kim JH, Kim YJ, Chum SH, Han HJ, Park JG. 1999. Germline mutations of the APC gene in Korean familial adenomatous polyposis patients. J Hum Genet 44:103-108.
-
(1999)
J Hum Genet
, vol.44
, pp. 103-108
-
-
Won, Y.J.1
Park, K.J.2
Kwon, H.J.3
Lee, J.H.4
Kim, J.H.5
Kim, Y.J.6
Chum, S.H.7
Han, H.J.8
Park, J.G.9
-
150
-
-
0032808818
-
Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype
-
Yates JRW, Bagshaw J, Aksmanovic VMA, Coomber E, McMahon R, Whittaker JL, Morrison PJ, Kendrick-Jones J, Ellis JA. 1999. Genotype-phenotype analysis in X-linked Emery-Dreifuss muscular dystrophy and identification of a missense mutation associated with a milder phenotype. Neuromusc Disord 9:159-165.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 159-165
-
-
Yates, J.R.W.1
Bagshaw, J.2
Aksmanovic, V.M.A.3
Coomber, E.4
McMahon, R.5
Whittaker, J.L.6
Morrison, P.J.7
Kendrick-Jones, J.8
Ellis, J.A.9
-
151
-
-
0033125723
-
The Emery-Dreifuss muscular dystrophy mutation database
-
Yates JRW, Wehnert M. 1999. The Emery-Dreifuss muscular dystrophy mutation database. Neuromusc Disord 9:199-199.
-
(1999)
Neuromusc Disord
, vol.9
, pp. 199
-
-
Yates, J.R.W.1
Wehnert, M.2
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