-
1
-
-
0016843831
-
Die Arachnomelie (Spinnengliedrigkeit), ein neues erbliches letales Missbildungssyndrom des Rindes
-
Rieck GW, Schade W (1975) Die Arachnomelie (Spinnengliedrigkeit), ein neues erbliches letales Missbildungssyndrom des Rindes. Dtsch Tierärztl Wochenschr 82: 342-347.
-
(1975)
Dtsch Tierärztl Wochenschr
, vol.82
, pp. 342-347
-
-
Rieck, G.W.1
Schade, W.2
-
2
-
-
6344224919
-
Prüfung von Schweizer Braunvieh-Bullen auf das vererbte Syndrom der Arachnomelie und Arthrogrypose (SAA) durch Untersuchung der Nachkommen im Fetalstadium
-
König H, Gaillard C, Chavaz J, Hunziker F, Tontis A (1987) Prüfung von Schweizer Braunvieh-Bullen auf das vererbte Syndrom der Arachnomelie und Arthrogrypose (SAA) durch Untersuchung der Nachkommen im Fetalstadium. Tierärztl Umsch 42: 692-697.
-
(1987)
Tierärztl Umsch
, vol.42
, pp. 692-697
-
-
König, H.1
Gaillard, C.2
Chavaz, J.3
Hunziker, F.4
Tontis, A.5
-
3
-
-
6344289240
-
Arachnomelia in four Italian Brown calves
-
Testoni S, Gentile A (2004) Arachnomelia in four Italian Brown calves. Vet Rec 155: 372.
-
(2004)
Vet Rec
, vol.155
, pp. 372
-
-
Testoni, S.1
Gentile, A.2
-
4
-
-
58149160386
-
Syndrome of arachnomelia in Simmental cattle
-
Buitkamp J, Luntz B, Emmerling R, Reichenbach HD, Weppert M, et al. (2008) Syndrome of arachnomelia in Simmental cattle. BMC Vet Res 4: 39.
-
(2008)
BMC Vet Res
, vol.4
, pp. 39
-
-
Buitkamp, J.1
Luntz, B.2
Emmerling, R.3
Reichenbach, H.D.4
Weppert, M.5
-
5
-
-
17144387530
-
Bovine model of Marfan syndrome results from an amino acid change (c.3598G.A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1
-
Singleton AC, Mitchell AL, Byers PH, Potter KA, Pace JM (2005) Bovine model of Marfan syndrome results from an amino acid change (c.3598G.A, p.E1200K) in a calcium-binding epidermal growth factor-like domain of fibrillin-1. Hum Mutat 25: 348-352.
-
(2005)
Hum Mutat
, vol.25
, pp. 348-352
-
-
Singleton, A.C.1
Mitchell, A.L.2
Byers, P.H.3
Potter, K.A.4
Pace, J.M.5
-
6
-
-
58649121484
-
Arachnomelia in Brown Swiss cattle maps to Chromosome 5
-
Drogemuller C, Rossi M, Gentile A, Testoni S, Jörg H, et al. (2009) Arachnomelia in Brown Swiss cattle maps to Chromosome 5. Mamm Genome 20: 53-59.
-
(2009)
Mamm Genome
, vol.20
, pp. 53-59
-
-
Drogemuller, C.1
Rossi, M.2
Gentile, A.3
Testoni, S.4
Jörg, H.5
-
7
-
-
70449435647
-
Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle
-
doi:10.1111/j.1365-2052.2009.01933.x
-
Buitkamp J, Kühn C, Semmer J, Götz KU (2009) Assignment of the locus for arachnomelia syndrome to bovine chromosome 23 in Simmental cattle. Anim Genet online early doi:10.1111/j.1365-2052.2009.01933.x.
-
(2009)
Anim Genet Online Early
-
-
Buitkamp, J.1
Kühn, C.2
Semmer, J.3
Götz, K.U.4
-
8
-
-
35748951614
-
Direct selection of human genomic loci by microarray hybridization. Nat
-
Albert TJ, Molla MN, Muzny DM, Nazareth L, Wheeler D, et al. (2007) Direct selection of human genomic loci by microarray hybridization. Nat. Methods 4: 903-905.
-
(2007)
Methods
, vol.4
, pp. 903-905
-
-
Albert, T.J.1
Molla, M.N.2
Muzny, D.M.3
Nazareth, L.4
Wheeler, D.5
-
9
-
-
35748959649
-
Microarray-based genomic selection for high-throughput resequencing
-
Okou DT, Steinberg KM, Middle C, Cutler DJ, Albert TJ, Zwick ME (2007) Microarray-based genomic selection for high-throughput resequencing. Nat Methods 4: 907-909.
-
(2007)
Nat Methods
, vol.4
, pp. 907-909
-
-
Okou, D.T.1
Steinberg, K.M.2
Middle, C.3
Cutler, D.J.4
Albert, T.J.5
Zwick, M.E.6
-
10
-
-
36549021060
-
Genome-wide in situ exon capture for selective resequencing
-
Hodges E, Xuan Z, Balija V, Kramer M, Molla MN, et al. (2007) Genome-wide in situ exon capture for selective resequencing. Nat Genet 39: 1522-1527.
-
(2007)
Nat Genet
, vol.39
, pp. 1522-1527
-
-
Hodges, E.1
Xuan, Z.2
Balija, V.3
Kramer, M.4
Molla, M.N.5
-
11
-
-
70249111091
-
Targeted capture and massively parallel sequencing of 12 human exomes
-
Ng SB, Turner EH, Robertson PD, Flygare SD, Bigham AW, et al. (2009) Targeted capture and massively parallel sequencing of 12 human exomes. Nature 461: 272-276.
-
(2009)
Nature
, vol.461
, pp. 272-276
-
-
Ng, S.B.1
Turner, E.H.2
Robertson, P.D.3
Flygare, S.D.4
Bigham, A.W.5
-
12
-
-
73349110071
-
Exome sequencing identifies the cause of a mendelian disorder
-
Ng SB Buckingham KJ, Lee C, Bigham AW, Tabor HK, et al. (2010) Exome sequencing identifies the cause of a mendelian disorder. Nat Genet 42: 30-35.
-
(2010)
Nat Genet
, vol.42
, pp. 30-35
-
-
Ng, S.B.1
Buckingham, K.J.2
Lee, C.3
Bigham, A.W.4
Tabor, H.K.5
-
13
-
-
73149112435
-
Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene
-
Volpi L, Roversi G, Colombo EA, Leijsten N, Concolino D, et al. (2010) Targeted next-generation sequencing appoints c16orf57 as clericuzio-type poikiloderma with neutropenia gene. Am J Hum Genet 86: 72-76.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 72-76
-
-
Volpi, L.1
Roversi, G.2
Colombo, E.A.3
Leijsten, N.4
Concolino, D.5
-
14
-
-
77649238270
-
Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79
-
Rehman AU, Morell RJ, Belyantseva IA, Khan SY, Boger ET, et al. (2010) Targeted Capture and Next-Generation Sequencing Identifies C9orf75, Encoding Taperin, as the Mutated Gene in Nonsyndromic Deafness DFNB79. Am J Hum Genet 86: 378-388.
-
(2010)
Am J Hum Genet
, vol.86
, pp. 378-388
-
-
Rehman, A.U.1
Morell, R.J.2
Belyantseva, I.A.3
Khan, S.Y.4
Boger, E.T.5
-
15
-
-
69249208477
-
Mutation discovery in the mouse using genetically guided array capture and resequencing
-
D'Ascenzo M, Meacham C, Kitzman J, Middle C, Knight J, et al. (2009) Mutation discovery in the mouse using genetically guided array capture and resequencing. Mamm Genome 20: 424-436.
-
(2009)
Mamm Genome
, vol.20
, pp. 424-436
-
-
D'ascenzo, M.1
Meacham, C.2
Kitzman, J.3
Middle, C.4
Knight, J.5
-
16
-
-
55549089660
-
Accurate whole human genome sequencing using reversible terminator chemistry
-
Bentley DR, Balasubramanian S, Swerdlow HP, Smith GP, Milton J, et al. (2008) Accurate whole human genome sequencing using reversible terminator chemistry. Nature 456: 53-59.
-
(2008)
Nature
, vol.456
, pp. 53-59
-
-
Bentley, D.R.1
Balasubramanian, S.2
Swerdlow, H.P.3
Smith, G.P.4
Milton, J.5
-
17
-
-
77951621301
-
The genome sequence of taurine cattle: A window to ruminant biology and evolution
-
Bovine Genome Sequencing and Analysis Consortium
-
Bovine Genome Sequencing and Analysis Consortium, Elsik CG, Tellam RL, Worley KC, Gibbs RA, (2009) The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science 324: 522-528.
-
(2009)
Science
, vol.324
, pp. 522-528
-
-
Elsik, C.G.1
Tellam, R.L.2
Worley, K.C.3
Gibbs, R.A.4
-
18
-
-
77957583420
-
Malformations and genetic disorders in cattle: Registration, frequencies and control of heriditary diseases in the A.I. derived Braunvieh population [in German]
-
Fuschini E, Fries R, Stocker H (1992) Malformations and genetic disorders in cattle: Registration, frequencies and control of heriditary diseases in the A.I. derived Braunvieh population [in German]. Wien Tierärztl Mschr 79: 161-165.
-
(1992)
Wien Tierärztl Mschr
, vol.79
, pp. 161-165
-
-
Fuschini, E.1
Fries, R.2
Stocker, H.3
-
19
-
-
0031459478
-
Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase
-
Kisker C, Schindelin H, Pacheco A, Wehbi WA, Garrett RM, et al. (1997) Molecular basis of sulfite oxidase deficiency from the structure of sulfite oxidase. Cell 91: 973-983.
-
(1997)
Cell
, vol.91
, pp. 973-983
-
-
Kisker, C.1
Schindelin, H.2
Pacheco, A.3
Wehbi, W.A.4
Garrett, R.M.5
-
20
-
-
17144439627
-
Isolated sulfite oxidase deficiency: Identification of 12 novel SUOX mutations in 10 patients
-
Johnson JL, Coyne KE, Garrett RM, Zabot MT, Dorche C, et al. (2002) Isolated sulfite oxidase deficiency: identification of 12 novel SUOX mutations in 10 patients. Hum Mutat 20: 74.
-
(2002)
Hum Mutat
, vol.20
, pp. 74
-
-
Johnson, J.L.1
Coyne, K.E.2
Garrett, R.M.3
Zabot, M.T.4
Dorche, C.5
-
21
-
-
0032568532
-
Human sulfite oxidase R160Q: Identification of the mutation in a sulfite oxidasedeficient patient and expression and characterization of the mutant enzyme
-
Garrett RM, Johnson JL, Graf TN, Feigenbaum A, Rajagopalan KV (1998) Human sulfite oxidase R160Q: identification of the mutation in a sulfite oxidasedeficient patient and expression and characterization of the mutant enzyme. Proc Natl Acad Sci USA 95: 6394-6398.
-
(1998)
Proc Natl Acad Sci USA
, vol.95
, pp. 6394-6398
-
-
Garrett, R.M.1
Johnson, J.L.2
Graf, T.N.3
Feigenbaum, A.4
Rajagopalan, K.V.5
-
22
-
-
22044449041
-
Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency
-
Seidahmed MZ, Alyamani EA, Rashed MS, Saadallah AA, Abdelbasit OB, et al. (2005) Total truncation of the molybdopterin/dimerization domains of SUOX protein in an Arab family with isolated sulfite oxidase deficiency. Am J Med Genet 136A: 205-209.
-
(2005)
Am J Med Genet
, vol.136 A
, pp. 205-209
-
-
Seidahmed, M.Z.1
Alyamani, E.A.2
Rashed, M.S.3
Saadallah, A.A.4
Abdelbasit, O.B.5
-
23
-
-
0028001103
-
Komrower Lecture. Molecular basis of phenotype expression in homocystinuria
-
Kraus JP (1994) Komrower Lecture. Molecular basis of phenotype expression in homocystinuria. J Inherit Metab Dis 17: 383-390.
-
(1994)
J Inherit Metab Dis
, vol.17
, pp. 383-390
-
-
Kraus, J.P.1
-
24
-
-
70149113077
-
-
R Development Core Team, R Foundation for Statistical Computing, Vienna, Austria. ISBN 3-900051-07-0
-
R Development Core Team (2009) R: A language and environment for statistical computing. R Foundation for Statistical Computing, Vienna, Austria. ISBN 3-900051-07-0.
-
(2009)
R: A Language and Environment For Statistical Computing
-
-
|