-
1
-
-
0018305742
-
Kartagener's syndrome and the syndrome of immotile cilia
-
Rott HD: Kartagener's syndrome and the syndrome of immotile cilia. Hum Genet 1979; 46: 249-261.
-
(1979)
Hum Genet
, vol.46
, pp. 249-261
-
-
Rott, H.D.1
-
2
-
-
0022322468
-
The immotile-cilia syndrome: A microtubule-associated defect
-
Afzelius BA: The immotile-cilia syndrome: a microtubule-associated defect. CRC Crit Rev Biochem 1985; 19: 63-87.
-
(1985)
CRC Crit Rev Biochem
, vol.19
, pp. 63-87
-
-
Afzelius, B.A.1
-
4
-
-
0000808460
-
Transposition of the viscera and sterility in men
-
Arge E: Transposition of the viscera and sterility in men. Lancet 1960; I: 412-414.
-
(1960)
Lancet
, vol.1
, pp. 412-414
-
-
Arge, E.1
-
5
-
-
0018656864
-
The immotile-cilia syndrome and other ciliary diseases
-
Afzelius BA: The immotile-cilia syndrome and other ciliary diseases. Int Rev Exp Path 1979; 19: 1-43.
-
(1979)
Int Rev Exp Path
, vol.19
, pp. 1-43
-
-
Afzelius, B.A.1
-
6
-
-
0028607956
-
Primary ciliary dyskinesia (the immotile cilia syndrome)
-
quiz 468-470
-
Schidlow DV: Primary ciliary dyskinesia (the immotile cilia syndrome). Ann Allergy 1994; 73: 457-468; quiz 468-470.
-
(1994)
Ann Allergy
, vol.73
, pp. 457-468
-
-
Schidlow, D.V.1
-
7
-
-
0029113132
-
Flagellar assembly in two hundred and fifty easy-to-follow steps
-
Dutcher SK: Flagellar assembly in two hundred and fifty easy-to-follow steps. Trends Genet 1995; 11: 398-404.
-
(1995)
Trends Genet
, vol.11
, pp. 398-404
-
-
Dutcher, S.K.1
-
8
-
-
0019825577
-
Genetical and ultrastructural aspects of the immotile- Cilia syndrome
-
Afzelius BA: Genetical and ultrastructural aspects of the immotile- cilia syndrome. Am J Hum Genet 1981; 33: 852-864.
-
(1981)
Am J Hum Genet
, vol.33
, pp. 852-864
-
-
Afzelius, B.A.1
-
9
-
-
0012599154
-
Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii
-
Piperno G, Huang B, Luck DJ: Two-dimensional analysis of flagellar proteins from wild-type and paralyzed mutants of Chlamydomonas reinhardtii. Proc Natl Acad Sci USA 1977; 74: 1600-1604.
-
(1977)
Proc Natl Acad Sci USA
, vol.74
, pp. 1600-1604
-
-
Piperno, G.1
Huang, B.2
Luck, D.J.3
-
10
-
-
0026745011
-
Ciliary ultrastructure in primary ciliary dyskinesia and other chronic respiratory conditions: The relevance of microtubular abnormalities
-
Lurie M, Rennert G, Goldenberg S, Rivlin J, Greenberg E, Katz I: Ciliary ultrastructure in primary ciliary dyskinesia and other chronic respiratory conditions: the relevance of microtubular abnormalities. Ultrastruct Pathol 1992; 16: 547-553.
-
(1992)
Ultrastruct Pathol
, vol.16
, pp. 547-553
-
-
Lurie, M.1
Rennert, G.2
Goldenberg, S.3
Rivlin, J.4
Greenberg, E.5
Katz, I.6
-
11
-
-
0028359813
-
Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome)
-
Narayan D, Krishnan SN, Upender M et al: Unusual inheritance of primary ciliary dyskinesia (Kartagener's syndrome). J Med Genet 1994; 31: 493-496.
-
(1994)
J Med Genet
, vol.31
, pp. 493-496
-
-
Narayan, D.1
Krishnan, S.N.2
Upender, M.3
-
12
-
-
0026514159
-
A family with RP3 type X-linked retinitis pigmentosa: An association with ciliary abnormalities
-
van Dorp DB, Wright AF, Carothers AD, Bleeker-Wagemakers EM: A family with RP3 type X-linked retinitis pigmentosa: an association with ciliary abnormalities. Hum Genet 1992; 88: 331-334.
-
(1992)
Hum Genet
, vol.88
, pp. 331-334
-
-
Van Dorp, D.B.1
Wright, A.F.2
Carothers, A.D.3
Bleeker-Wagemakers, E.M.4
-
13
-
-
0029013276
-
A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination
-
Blouin JL, Christie DH, Gos A et al: A new dinucleotide repeat polymorphism at the telomere of chromosome 21q reveals a significant difference between male and female rates of recombination. Am J Hum Genet 1995; 57: 388-394.
-
(1995)
Am J Hum Genet
, vol.57
, pp. 388-394
-
-
Blouin, J.L.1
Christie, D.H.2
Gos, A.3
-
14
-
-
0028365909
-
Integrated human genome-wide maps constructed using the CEPH reference panel
-
Buetow KH, Weber JL, Ludwigsen S et al: Integrated human genome-wide maps constructed using the CEPH reference panel. Nat Genet 1994; 6: 391-393.
-
(1994)
Nat Genet
, vol.6
, pp. 391-393
-
-
Buetow, K.H.1
Weber, J.L.2
Ludwigsen, S.3
-
15
-
-
0027942568
-
A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC)
-
Murray JC, Buetow KH, Weber JL et al. A comprehensive human linkage map with centimorgan density. Cooperative Human Linkage Center (CHLC). Science 1994; 265: 2049-2054.
-
(1994)
Science
, vol.265
, pp. 2049-2054
-
-
Murray, J.C.1
Buetow, K.H.2
Weber, J.L.3
-
16
-
-
0028931597
-
Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome
-
Dubovsky S, Sheffield VC, Duyk GM, Weber JL: Sets of short tandem repeat polymorphisms for efficient linkage screening of the human genome. Hum Mol Genet 1995; 4: 449-452.
-
(1995)
Hum Mol Genet
, vol.4
, pp. 449-452
-
-
Dubovsky, S.1
Sheffield, V.C.2
Duyk, G.M.3
Weber, J.L.4
-
17
-
-
13344259999
-
A comprehensive genetic map of the human genome based on 5,264 microsatellites
-
Dib C, Fauré S, Fizames C et al: A comprehensive genetic map of the human genome based on 5,264 microsatellites. Nature 1996; 380: 152-154.
-
(1996)
Nature
, vol.380
, pp. 152-154
-
-
Dib, C.1
Fauré, S.2
Fizames, C.3
-
18
-
-
0039513062
-
Computer-simulation methods in human linkage analysis
-
Ott J: Computer-simulation methods in human linkage analysis. Proc Natl Acad Sci USA 1989; 86: 4175-4178.
-
(1989)
Proc Natl Acad Sci USA
, vol.86
, pp. 4175-4178
-
-
Ott, J.1
-
19
-
-
0025008255
-
Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis
-
Weeks DE, Lehner T, Squires-Wheeler E, Kaufmann C, Ott J: Measuring the inflation of the lod score due to its maximization over model parameter values in human linkage analysis. Genet Epidemiol 1990; 7: 237-243.
-
(1990)
Genet Epidemiol
, vol.7
, pp. 237-243
-
-
Weeks, D.E.1
Lehner, T.2
Squires-Wheeler, E.3
Kaufmann, C.4
Ott, J.5
-
20
-
-
0021344005
-
Easy calculations of lod scores and genetic risks on small computers
-
Lathrop GM, Lalouel JM: Easy calculations of lod scores and genetic risks on small computers. Am J Hum Genet 1984; 36: 460-465.
-
(1984)
Am J Hum Genet
, vol.36
, pp. 460-465
-
-
Lathrop, G.M.1
Lalouel, J.M.2
-
23
-
-
0000877874
-
The detection of autosomal linkage in data which consist of pairs of brothers and sisters of unspecified parentage
-
Penrose LS: The detection of autosomal linkage in data which consist of pairs of brothers and sisters of unspecified parentage. Ann Eugenics 1935; 6: 133-138.
-
(1935)
Ann Eugenics
, vol.6
, pp. 133-138
-
-
Penrose, L.S.1
-
24
-
-
0029886532
-
Parametric and nonparametric linkage analysis: A unified multipoint approach
-
Kruglyak L, DaLy MJ, Reeve-Daly MP, Lander ES: Parametric and nonparametric linkage analysis: a unified multipoint approach. Am J Hum Genet 1996; 58: 1347-1363.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1347-1363
-
-
Kruglyak, L.1
Daly, M.J.2
Reeve-Daly, M.P.3
Lander, E.S.4
-
25
-
-
0033555998
-
Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia
-
Noone PG, Bali D, Carson JL et al: Discordant organ laterality in monozygotic twins with primary ciliary dyskinesia. Am J Med Genet 1999; 82: 155-160.
-
(1999)
Am J Med Genet
, vol.82
, pp. 155-160
-
-
Noone, P.G.1
Bali, D.2
Carson, J.L.3
-
26
-
-
0028877463
-
Genetic dissection of complex traits: Guidelines for interpreting and reporting linkage results
-
Lander E, Kruglyak L: Genetic dissection of complex traits: guidelines for interpreting and reporting linkage results. Nat Genet 1995; 11: 241-247.
-
(1995)
Nat Genet
, vol.11
, pp. 241-247
-
-
Lander, E.1
Kruglyak, L.2
-
27
-
-
0027183187
-
Chlamydomonas outer arm dynein mutant with a truncated beta heavy chain
-
Sakakibara H, Takada S, King SM, Witman GB, Kamiya RA: Chlamydomonas outer arm dynein mutant with a truncated beta heavy chain. J Cell Biol 1993; 122: 653-661.
-
(1993)
J Cell Biol
, vol.122
, pp. 653-661
-
-
Sakakibara, H.1
Takada, S.2
King, S.M.3
Witman, G.B.4
Kamiya, R.A.5
-
28
-
-
0024242221
-
Mutations at twelve independent loci result in absence of outer dynein arms in Chylamydomonas reinhardtii
-
Kamiya RJ: Mutations at twelve independent loci result in absence of outer dynein arms in Chylamydomonas reinhardtii. Cell Biol 1988; 107: 2253-2258.
-
(1988)
Cell Biol
, vol.107
, pp. 2253-2258
-
-
Kamiya, R.J.1
-
29
-
-
0028245437
-
Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci
-
Kajiwara K, Berson EL, Dryja TP: Digenic retinitis pigmentosa due to mutations at the unlinked peripherin/RDS and ROM1 loci. Science 1994; 264: 1604-1608.
-
(1994)
Science
, vol.264
, pp. 1604-1608
-
-
Kajiwara, K.1
Berson, E.L.2
Dryja, T.P.3
-
30
-
-
0015268673
-
Situs inversus totalis and Kartagener's syndrome in a Japanese population
-
Katsuhara K, Kawamoto S, Wakabayashi T, Belsky JL: Situs inversus totalis and Kartagener's syndrome in a Japanese population. Chest 1972; 61: 56-61.
-
(1972)
Chest
, vol.61
, pp. 56-61
-
-
Katsuhara, K.1
Kawamoto, S.2
Wakabayashi, T.3
Belsky, J.L.4
-
31
-
-
0033360998
-
Exclusion of chromosome? for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia
-
Witt M, Wang Y, Wang S et al: Exclusion of chromosome? for Kartagener syndrome but suggestion of linkage in families with other forms of primary ciliary dyskinesia. Am J Hum Genet 1999; 64: 313-318.
-
(1999)
Am J Hum Genet
, vol.64
, pp. 313-318
-
-
Witt, M.1
Wang, Y.2
Wang, S.3
-
32
-
-
0031778075
-
Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia
-
Pan Y, McCaskill CD, Thompson KH et al: Paternal isodisomy of chromosome 7 associated with complete situs inversus and immotile cilia. Am J Hum Genet 1998; 62: 1551-1555.
-
(1998)
Am J Hum Genet
, vol.62
, pp. 1551-1555
-
-
Pan, Y.1
McCaskill, C.D.2
Thompson, K.H.3
-
33
-
-
0031572298
-
Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11
-
Kastury K, Taylor WE, Gutierrez M et al: Chromosomal mapping of two members of the human dynein gene family to chromosome regions 7p15 and 11q13 near the deafness loci DFNA 5 and DFNA 11. Genomics 1997; 44: 362-364.
-
(1997)
Genomics
, vol.44
, pp. 362-364
-
-
Kastury, K.1
Taylor, W.E.2
Gutierrez, M.3
-
34
-
-
0030656618
-
Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice
-
Supp DM, Witte DP, Potter SS, Brueckner M: Mutation of an axonemal dynein affects left-right asymmetry in inversus viscerum mice. Nature 1997; 389: 963-966.
-
(1997)
Nature
, vol.389
, pp. 963-966
-
-
Supp, D.M.1
Witte, D.P.2
Potter, S.S.3
Brueckner, M.4
-
35
-
-
0030586902
-
Multiple mouse chromosomal loci for dynein-based motility
-
Vaughan KT, Mikami A, Paschal BM et al: Multiple mouse chromosomal loci for dynein-based motility. Genomics 1996; 36: 29-38.
-
(1996)
Genomics
, vol.36
, pp. 29-38
-
-
Vaughan, K.T.1
Mikami, A.2
Paschal, B.M.3
-
36
-
-
0030239727
-
Characterization of a novel human dynein-related gene that is specifically expressed in testis
-
Milisav I, Jones MH, Affara NA: Characterization of a novel human dynein-related gene that is specifically expressed in testis. Mamm Genome 1996; 7: 667-672.
-
(1996)
Mamm Genome
, vol.7
, pp. 667-672
-
-
Milisav, I.1
Jones, M.H.2
Affara, N.A.3
-
37
-
-
0030860532
-
Isolation of several human axonemal dynein heavy chain genes: Genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment
-
Chapelin C, Duriez B, Magnino F, Goossens M, Escudier E, Amselem S: Isolation of several human axonemal dynein heavy chain genes: genomic structure of the catalytic site, phylogenetic analysis and chromosomal assignment. FEBS Lett 1997; 412: 325-330.
-
(1997)
FEBS Lett
, vol.412
, pp. 325-330
-
-
Chapelin, C.1
Duriez, B.2
Magnino, F.3
Goossens, M.4
Escudier, E.5
Amselem, S.6
-
38
-
-
0030731609
-
Identification of dynein heavy chain genes expressed in human and mouse testis: Chromosomal localization of an axonemal dynein gene
-
Neesen J, Koehler MR, Kirschner R et al: Identification of dynein heavy chain genes expressed in human and mouse testis: chromosomal localization of an axonemal dynein gene. Gene 1997; 200: 193-202.
-
(1997)
Gene
, vol.200
, pp. 193-202
-
-
Neesen, J.1
Koehler, M.R.2
Kirschner, R.3
-
39
-
-
0031808518
-
A potential human axonemal dynein heavy- Chain gene maps to 17q25
-
Milisav I, Affara NA: A potential human axonemal dynein heavy- chain gene maps to 17q25. Mamm Genome 1998; 9: 404-407.
-
(1998)
Mamm Genome
, vol.9
, pp. 404-407
-
-
Milisav, I.1
Affara, N.A.2
-
40
-
-
9844238708
-
Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene
-
Kastury K, Taylor WE, Shen R et al: Complementary deoxyribonucleic acid cloning and characterization of a putative human axonemal dynein light chain gene. J C.lin Endocrinol Metab 1997; 82: 3047-3053.
-
(1997)
J C.lin Endocrinol Metab
, vol.82
, pp. 3047-3053
-
-
Kastury, K.1
Taylor, W.E.2
Shen, R.3
-
42
-
-
0029060788
-
Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality
-
Britz-Cunningham SH, Shah MM, Zuppan CW, Fletcher WH: Mutations of the Connexin43 gap-junction gene in patients with heart malformations and defects of laterality. N Engl J Med 1995; 332: 1323-1329.
-
(1995)
N Engl J Med
, vol.332
, pp. 1323-1329
-
-
Britz-Cunningham, S.H.1
Shah, M.M.2
Zuppan, C.W.3
Fletcher, W.H.4
-
43
-
-
0032006886
-
KIF3C, a novel member of the kinesin superfamily: Sequence, expression, and mapping to human chromosome 2 at 2p23
-
Sardella M, Navone F, Rocchi M et al: KIF3C, a novel member of the kinesin superfamily: sequence, expression, and mapping to human chromosome 2 at 2p23. Genomics 1998; 47: 405-408.
-
(1998)
Genomics
, vol.47
, pp. 405-408
-
-
Sardella, M.1
Navone, F.2
Rocchi, M.3
-
44
-
-
0028938832
-
Differential expression of alternatively spliced forms of MAP4: A repertoire of structurally different microtubule-binding domains
-
Chapin SJ, Lue CM, Yu MT, Bulinski JC: Differential expression of alternatively spliced forms of MAP4: a repertoire of structurally different microtubule-binding domains. Biochemistry 1995; 34: 2289-2301.
-
(1995)
Biochemistry
, vol.34
, pp. 2289-2301
-
-
Chapin, S.J.1
Lue, C.M.2
Yu, M.T.3
Bulinski, J.C.4
-
45
-
-
0028906238
-
Brain-specific expression of human microtubule-associated protein 1A (MAP1A) gene and its assignment to human chromosome 15
-
Fukuyama R, Rapoport SI: Brain-specific expression of human microtubule-associated protein 1A (MAP1A) gene and its assignment to human chromosome 15. J Neurosci Res 1995; 40: 820-825.
-
(1995)
J Neurosci Res
, vol.40
, pp. 820-825
-
-
Fukuyama, R.1
Rapoport, S.I.2
-
46
-
-
0029913091
-
Conserved left-right assymetry of nodal expression and alterations in murine situs inversus
-
Lowe LA, Supp DM, Sampath K et al: Conserved left-right assymetry of nodal expression and alterations in murine situs inversus. Nature 1996; 381: 158-161.
-
(1996)
Nature
, vol.381
, pp. 158-161
-
-
Lowe, L.A.1
Supp, D.M.2
Sampath, K.3
-
47
-
-
0032530312
-
Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry
-
Chen J, Knowles HJ, Herbert JL, Hackett BP: Mutation of the mouse hepatocyte nuclear factor/forkhead homologue 4 gene results in an absence of cilia and random left-right asymmetry. J Clin Invest 1998; 102: 1077-1082.
-
(1998)
J Clin Invest
, vol.102
, pp. 1077-1082
-
-
Chen, J.1
Knowles, H.J.2
Herbert, J.L.3
Hackett, B.P.4
-
48
-
-
0032919663
-
Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB
-
Kosaki R, Gebbia M, Kosaki K et al: Left-right axis malformations associated with mutations in ACVR2B, the gene for human activin receptor type IIB. Am J Med Genet 1999; 82: 70-76.
-
(1999)
Am J Med Genet
, vol.82
, pp. 70-76
-
-
Kosaki, R.1
Gebbia, M.2
Kosaki, K.3
-
49
-
-
0032504963
-
Cloning of inv, a gene that controls left/right asymmetry and kidney development
-
Mochizuki T, Saijoh Y, Tsuchiya K et al: Cloning of inv, a gene that controls left/right asymmetry and kidney development. Nature 1998; 395: 177-181.
-
(1998)
Nature
, vol.395
, pp. 177-181
-
-
Mochizuki, T.1
Saijoh, Y.2
Tsuchiya, K.3
-
50
-
-
0032493897
-
The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals
-
Logan M, Pagan-Westphal SM, Smith DM, Paganessi L, Tabin CJ: The transcription factor Pitx2 mediates situs-specific morphogenesis in response to left-right asymmetric signals. Cell 1998; 94: 307-317.
-
(1998)
Cell
, vol.94
, pp. 307-317
-
-
Logan, M.1
Pagan-Westphal, S.M.2
Smith, D.M.3
Paganessi, L.4
Tabin, C.J.5
-
51
-
-
16944364984
-
X-linked situs abnormalities result from mutations in ZlC3
-
Gebbia M, Ferrero GB, Pilia G et al: X-linked situs abnormalities result from mutations in ZlC3. Nat Genet 1997; 17: 305-308.
-
(1997)
Nat Genet
, vol.17
, pp. 305-308
-
-
Gebbia, M.1
Ferrero, G.B.2
Pilia, G.3
-
52
-
-
0023239442
-
Homozygosity mapping: A way to map human recessive traits with the DNa of inbred children
-
Lander ES, Botstein D: Homozygosity mapping: a way to map human recessive traits with the DNA of inbred children. Science 1987; 236: 1567-1570.
-
(1987)
Science
, vol.236
, pp. 1567-1570
-
-
Lander, E.S.1
Botstein, D.2
-
53
-
-
0030869668
-
Functional differences among Xenopus nodal-related genes in left-right axis determination
-
Sampath K, Cheng AM, Frisch A, Wright CV: Functional differences among Xenopus nodal-related genes in left-right axis determination. Development 1997; 124: 3293-3302.
-
(1997)
Development
, vol.124
, pp. 3293-3302
-
-
Sampath, K.1
Cheng, A.M.2
Frisch, A.3
Wright, C.V.4
|