-
1
-
-
59749096464
-
Clinical practice: Primary ovarian insufficiency
-
Nelson LM. Clinical practice: Primary ovarian insufficiency. N Engl J Med. 2009;360(6):606-614.
-
(2009)
N Engl J Med
, vol.360
, Issue.6
, pp. 606-614
-
-
Nelson, L.M.1
-
3
-
-
84920470819
-
Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability
-
AlAsiri S, Basit S, Wood-Trageser MA, Yatsenko SA, Jeffries EP, Surti U, Ketterer DM, Afzal S, Ramzan K, Faiyaz-Ul Haque M, Jiang H, Trakselis MA, Rajkovic A. Exome sequencing reveals MCM8 mutation underlies ovarian failure and chromosomal instability. J Clin Invest. 2014;125(1):258-262.
-
(2014)
J Clin Invest
, vol.125
, Issue.1
, pp. 258-262
-
-
AlAsiri, S.1
Basit, S.2
Ma, W.3
Yatsenko, S.A.4
Jeffries, E.P.5
Surti, U.6
Ketterer, D.M.7
Afzal, S.8
Ramzan, K.9
Faiyaz-Ul Haque, M.10
Jiang, H.11
Ma, T.12
Rajkovic, A.13
-
4
-
-
84919620879
-
MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability
-
Wood-Trageser MA, Gurbuz F, Yatsenko SA, Jeffries EP, Kotan LD, Surti U, Ketterer DM, Matic J, Chipkin J, Jiang H, Trakselis MA, Topaloglu AK, Rajkovic A. MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability. Am J Hum Genet. 2014;95(6):754-762.
-
(2014)
Am J Hum Genet
, vol.95
, Issue.6
, pp. 754-762
-
-
Ma, W.1
Gurbuz, F.2
Yatsenko, S.A.3
Jeffries, E.P.4
Kotan, L.D.5
Surti, U.6
Ketterer, D.M.7
Matic, J.8
Chipkin, J.9
Jiang, H.10
Ma, T.11
Topaloglu, A.K.12
Rajkovic, A.13
-
5
-
-
84930674380
-
Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure
-
Tenenbaum-Rakover Y, Weinberg-Shukron A, Renbaum P, Lobel O, Eideh H, Gulsuner S, Dahary D, Abu-Rayyan A, Kanaan M, Levy-Lahad E, Bercovich D, Zangen D. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure. J Med Genet. 2015;52(6):391-399.
-
(2015)
J Med Genet
, vol.52
, Issue.6
, pp. 391-399
-
-
Tenenbaum-Rakover, Y.1
Weinberg-Shukron, A.2
Renbaum, P.3
Lobel, O.4
Eideh, H.5
Gulsuner, S.6
Dahary, D.7
Abu-Rayyan, A.8
Kanaan, M.9
Levy-Lahad, E.10
Bercovich, D.11
Zangen, D.12
-
6
-
-
84949673296
-
Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure
-
Goldberg Y, Halpern N, Hubert A, Adler SN, Cohen S, Plesser- Duvdevani M, Pappo O, Shaag A, Meiner V. Mutated MCM9 is associated with predisposition to hereditary mixed polyposis and colorectal cancer in addition to primary ovarian failure. Cancer Genet. 2015;208(12):621-624.
-
(2015)
Cancer Genet
, vol.208
, Issue.12
, pp. 621-624
-
-
Goldberg, Y.1
Halpern, N.2
Hubert, A.3
Adler, S.N.4
Cohen, S.5
Plesser-Duvdevani, M.6
Pappo, O.7
Shaag, A.8
Meiner, V.9
-
7
-
-
84958213536
-
A non-senseMCM9mutation in a familial case of primary ovarian insufficiency
-
Fauchereau F, Shalev S, Chervinsky E, Beck-Fruchter R, Legois B, Fellous M, Caburet S, Veitia RA. A non-senseMCM9mutation in a familial case of primary ovarian insufficiency. Clin Genet. 2016; 89(5):603-607.
-
(2016)
Clin Genet
, vol.89
, Issue.5
, pp. 603-607
-
-
Fauchereau, F.1
Shalev, S.2
Chervinsky, E.3
Beck-Fruchter, R.4
Legois, B.5
Fellous, M.6
Caburet, S.7
Veitia, R.A.8
-
8
-
-
80055085862
-
Minichromosome maintenance helicase paralog MCM9 is dispensable for DNA replication but functions in germ-line stem cells and tumor suppression
-
Hartford SA, Luo Y, Southard TL, Min IM, Lis JT, Schimenti JC. Minichromosome maintenance helicase paralog MCM9 is dispensable for DNA replication but functions in germ-line stem cells and tumor suppression. Proc Natl Acad Sci USA. 2011;108(43): 17702-17707.
-
(2011)
Proc Natl Acad Sci USA
, vol.108
, Issue.43
, pp. 17702-17707
-
-
Hartford, S.A.1
Luo, Y.2
Southard, T.L.3
Min, I.M.4
Lis, J.T.5
Schimenti, J.C.6
-
9
-
-
84865368229
-
MCM8-and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination
-
Lutzmann M, Grey C, Traver S, Ganier O, Maya-Mendoza A, Ranisavljevic N, Bernex F, Nishiyama A, Montel N, Gavois E, Forichon L, de Massy B,Méchali M. MCM8-and MCM9-deficient mice reveal gametogenesis defects and genome instability due to impaired homologous recombination. Mol Cell. 2012;47(4): 523-534.
-
(2012)
Mol Cell
, vol.47
, Issue.4
, pp. 523-534
-
-
Lutzmann, M.1
Grey, C.2
Traver, S.3
Ganier, O.4
Maya-Mendoza, A.5
Ranisavljevic, N.6
Bernex, F.7
Nishiyama, A.8
Montel, N.9
Gavois, E.10
Forichon, L.11
De Massy, B.12
Méchali, M.13
-
10
-
-
85000348717
-
Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair
-
PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study
-
Day FR, Ruth KS, Thompson DJ, Lunetta KL, Pervjakova N, Chasman DI, Stolk L, Finucane HK, Sulem P, Bulik-Sullivan B, Esko T, Johnson AD, Elks CE, Franceschini N, He C, Altmaier E, Brody JA, Franke LL, Huffman JE, Keller MF, McArdle PF, Nutile T, Porcu E, Robino A, Rose LM, Schick UM, Smith JA, Teumer A, Traglia M, Vuckovic D, Yao J, Zhao W, Albrecht E, Amin N, Corre T, Hottenga JJ, Mangino M, Smith AV, Tanaka T, Abecasis GR, Andrulis IL, Anton-Culver H, Antoniou AC, Arndt V, Arnold AM, Barbieri C, Beckmann MW, Beeghly-Fadiel A, Benitez J, Bernstein L, Bielinski SJ, Blomqvist C, Boerwinkle E, Bogdanova NV, Bojesen SE, Bolla MK, Borresen-Dale AL, Boutin TS, Brauch H, Brenner H, Brüning T, Burwinkel B, Campbell A, Campbell H, Chanock SJ, Chapman JR, Chen YD, Chenevix-Trench G, Couch FJ, Coviello AD, Cox A, Czene K, Darabi H, De Vivo I, Demerath EW, Dennis J, Devilee P, Dörk T, Dos-Santos-Silva I, Dunning AM, Eicher JD, Fasching PA, Faul JD, Figueroa J, Flesch-Janys D, Gandin I, Garcia ME, García-Closas M, Giles GG, Girotto GG, Goldberg MS, González-Neira A, Goodarzi MO, Grove ML, Gudbjartsson DF, Guénel P, Guo X, Haiman CA, Hall P, Hamann U, Henderson BE, Hocking LJ, Hofman A, Homuth G, Hooning MJ, Hopper JL, Hu FB, Huang J, Humphreys K, Hunter DJ, Jakubowska A, Jones SE, Kabisch M, Karasik D, Knight JA, Kolcic I, Kooperberg C, Kosma VM, Kriebel J, Kristensen V, Lambrechts D, Langenberg C, Li J, Li X, Lindström S, Liu Y, Luan J, Lubinski J,Mägi R,Mannermaa A, Manz J, Margolin S, Marten J, Martin NG, Masciullo C, Meindl A, Michailidou K, Mihailov E, Milani L, Milne RL, Müller-Nurasyid M, Nalls M, Neale BM, Nevanlinna H, Neven P, Newman AB, Nordestgaard BG, Olson JE, Padmanabhan S, Peterlongo P, Peters U, Petersmann A, Peto J, Pharoah PD, Pirastu NN, Pirie A, Pistis G, Polasek O, Porteous D, Psaty BM, Pylkäs K, Radice P, Raffel LJ, Rivadeneira F, Rudan I, Rudolph A, Ruggiero D, Sala CF, Sanna S, Sawyer EJ, Schlessinger D, Schmidt MK, Schmidt F, Schmutzler RK, Schoemaker MJ, Scott RA, Seynaeve CM, Simard J, Sorice R, Southey MC, Stöckl D, Strauch K, Swerdlow A, Taylor KD, Thorsteinsdottir U, Toland AE, Tomlinson I, Truong T, Tryggvadottir L, Turner ST, Vozzi D, Wang Q, WellonsM,Willemsen G,Wilson JF, Winqvist R,Wolffenbuttel BB, Wright AF, Yannoukakos D, Zemunik T, Zheng W, Zygmunt M, Bergmann S, Boomsma DI, Buring JE, Ferrucci L, Montgomery GW, Gudnason V, Spector TD, van Duijn CM, Alizadeh BZ, Ciullo M, Crisponi L, Easton DF, Gasparini PP, Gieger C, Harris TB, Hayward C, Kardia SL, Kraft P, McKnight B, Metspalu A, Morrison AC, Reiner AP, Ridker PM, Rotter JI, Toniolo D,UitterlindenAG,Ulivi S,VölzkeH,WarehamNJ,WeirDR,Yerges- Armstrong LM, Price AL, Stefansson K, Visser JA, Ong KK, Chang- Claude J, Murabito JM, Perry JR, Murray A; PRACTICAL Consortium; kConFab Investigators; AOCS Investigators; Generation Scotland; EPIC-InterAct Consortium; LifeLines Cohort Study. Large-scale genomic analyses link reproductive aging to hypothalamic signaling, breast cancer susceptibility and BRCA1-mediated DNA repair. Nat Genet. 2015;47(11):1294-1303.
-
(2015)
Nat Genet
, vol.47
, Issue.11
, pp. 1294-1303
-
-
Day, F.R.1
Ruth, K.S.2
Thompson, D.J.3
Lunetta, K.L.4
Pervjakova, N.5
Chasman, D.I.6
Stolk, L.7
Finucane, H.K.8
Sulem, P.9
Bulik-Sullivan, B.10
Esko, T.11
Johnson, A.D.12
Elks, C.E.13
Franceschini, N.14
He, C.15
Altmaier, E.16
Brody, J.A.17
Franke, L.L.18
Huffman, J.E.19
Keller, M.F.20
McArdle, P.F.21
Nutile, T.22
Porcu, E.23
Robino, A.24
Rose, L.M.25
Schick, U.M.26
Smith, J.A.27
Teumer, A.28
Traglia, M.29
Vuckovic, D.30
Yao, J.31
Zhao, W.32
Albrecht, E.33
Amin, N.34
Corre, T.35
Hottenga, J.J.36
Mangino, M.37
Smith, A.V.38
Tanaka, T.39
Abecasis, G.R.40
Andrulis, I.L.41
Anton-Culver, H.42
Antoniou, A.C.43
Arndt, V.44
Arnold, A.M.45
Barbieri, C.46
Beckmann, M.W.47
Beeghly-Fadiel, A.48
Benitez, J.49
Bernstein, L.50
Bielinski, S.J.51
Blomqvist, C.52
Boerwinkle, E.53
Bogdanova, N.V.54
Bojesen, S.E.55
Bolla, M.K.56
Borresen-Dale, A.L.57
Boutin, T.S.58
Brauch, H.59
Brenner, H.60
Brüning, T.61
Burwinkel, B.62
Campbell, A.63
Campbell, H.64
Chanock, S.J.65
Chapman, J.R.66
Chen, Y.D.67
Chenevix-Trench, G.68
Couch, F.J.69
Coviello, A.D.70
Cox, A.71
Czene, K.72
Darabi, H.73
De Vivo, I.74
Demerath, E.W.75
Dennis, J.76
Devilee, P.77
Dörk, T.78
Dos-Santos-Silva, I.79
Dunning, A.M.80
Eicher, J.D.81
Fasching, P.A.82
Faul, J.D.83
Figueroa, J.84
Flesch-Janys, D.85
Gandin, I.86
Garcia, M.E.87
García-Closas, M.88
Giles, G.G.89
Girotto, G.G.90
Goldberg, M.S.91
González-Neira, A.92
Goodarzi, M.O.93
Grove, M.L.94
Gudbjartsson, D.F.95
Guénel, P.96
Guo, X.97
Haiman, C.A.98
Hall, P.99
more..
-
11
-
-
84863231584
-
Replication of loci influencing ages at menarche and menopause in Hispanic women: The Women's Health Initiative SHARe Study
-
Chen CT, Fernández-Rhodes L, Brzyski RG, Carlson CS, Chen Z, Heiss G, North KE, Woods NF, Rajkovic A, Kooperberg C, Franceschini N. Replication of loci influencing ages at menarche and menopause in Hispanic women: The Women's Health Initiative SHARe Study. Hum Mol Genet. 2011;21(6):1419-1432.
-
(2011)
Hum Mol Genet
, vol.21
, Issue.6
, pp. 1419-1432
-
-
Chen, C.T.1
Fernández-Rhodes, L.2
Brzyski, R.G.3
Carlson, C.S.4
Chen, Z.5
Heiss, G.6
North, K.E.7
Woods, N.F.8
Rajkovic, A.9
Kooperberg, C.10
Franceschini, N.11
-
12
-
-
67649884743
-
Fast and accurate short read alignmentwith Burrows- Wheeler transform
-
LiH,DurbinR. Fast and accurate short read alignmentwith Burrows- Wheeler transform. Bioinformatics. 2009;25(14):1754-1760.
-
(2009)
Bioinformatics
, vol.25
, Issue.14
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
13
-
-
77949587649
-
Fast and accurate long-read alignment with Burrows-Wheeler transform
-
Li H, Durbin R. Fast and accurate long-read alignment with Burrows-Wheeler transform. Bioinformatics. 2010;26(5):589-595.
-
(2010)
Bioinformatics
, vol.26
, Issue.5
, pp. 589-595
-
-
Li, H.1
Durbin, R.2
-
14
-
-
0035173378
-
DbSNP: The NCBI database of genetic variation
-
Sherry ST, Ward MH, Kholodov M, Baker J, Phan L, Smigielski EM, Sirotkin K. dbSNP: The NCBI database of genetic variation. Nucleic Acids Res. 2001;29(1):308-311.
-
(2001)
Nucleic Acids Res
, vol.29
, Issue.1
, pp. 308-311
-
-
Sherry, S.T.1
Ward, M.H.2
Kholodov, M.3
Baker, J.4
Phan, L.5
Smigielski, E.M.6
Sirotkin, K.7
-
15
-
-
84928209346
-
Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology
-
ACMG Laboratory Quality Assurance Committee
-
Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee. Standards and guidelines for the interpretation of sequence variants: A joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology. Genet Med. 2015;17(5):405-423.
-
(2015)
Genet Med
, vol.17
, Issue.5
, pp. 405-423
-
-
Richards, S.1
Aziz, N.2
Bale, S.3
Bick, D.4
Das, S.5
Gastier-Foster, J.6
Grody, W.W.7
Hegde, M.8
Lyon, E.9
Spector, E.10
Voelkerding, K.11
Rehm, H.L.12
-
16
-
-
66449133554
-
A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450
-
Wang LL, Li Y, Zhou SF. A bioinformatics approach for the phenotype prediction of nonsynonymous single nucleotide polymorphisms in human cytochromes P450. Drug Metab Dispos. 2009;37(5):977-991.
-
(2009)
Drug Metab Dispos
, vol.37
, Issue.5
, pp. 977-991
-
-
Wang, L.L.1
Li, Y.2
Zhou, S.F.3
-
17
-
-
84964881377
-
Variability in pathogenicity prediction programs: Impact on clinical diagnostics
-
Walters-Sen LC, Hashimoto S, Thrush DL, Reshmi S, Gastier- Foster JM, Astbury C, Pyatt RE. Variability in pathogenicity prediction programs: Impact on clinical diagnostics. Mol Genet Genomic Med. 2014;3(2):99-110.
-
(2014)
Mol Genet Genomic Med
, vol.3
, Issue.2
, pp. 99-110
-
-
Walters-Sen, L.C.1
Hashimoto, S.2
Thrush, D.L.3
Reshmi, S.4
Gastier-Foster, J.M.5
Astbury, C.6
Pyatt, R.E.7
-
18
-
-
68149165614
-
Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC. Predicting the effects of coding nonsynonymous variants on protein function using the SIFT algorithm. Nat Protoc. 2009;4(8):1073-1081.
-
(2009)
Nat Protoc
, vol.4
, Issue.8
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
19
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, PeshkinL,RamenskyVE, GerasimovaA, Bork P, Kondrashov AS, Sunyaev S.R. A method and server for predicting damaging missense mutations. Nat Methods. 2010;7(4):248-249.
-
(2010)
Nat Methods
, vol.7
, Issue.4
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
Ramensky, V.E.4
Gerasimova, A.5
Bork, P.6
Kondrashov, A.S.7
Sunyaev, S.R.8
-
20
-
-
84982253941
-
Analysis of protein-coding genetic variation in 60,706 humans
-
Lek M, Karczewski KJ, Minikel EV, Samocha KE, Banks E, Fennell T, O'Donnell-Luria AH, Ware JS, Hill AJ, Cummings BB, Tukiainen T, Birnbaum DP, Kosmicki JA, Duncan LE, Estrada K, Zhao F, Zou J, Pierce-Hoffman E, Berghout J, Cooper DN, Deflaux N, DePristo M, Do R, Flannick J, Fromer M, Gauthier L, Goldstein J, Gupta N, Howrigan D, Kiezun A, Kurki MI, Moonshine AL, Natarajan P, Orozco L, Peloso GM, Poplin R, Rivas MA, Ruano- Rubio V, Rose SA, Ruderfer DM, Shakir K, Stenson PD, Stevens C, Thomas BP, Tiao G, Tusie-LunaMT, Weisburd B, Won HH, Yu D, Altshuler DM, Ardissino D, Boehnke M, Danesh J, Donnelly S, Elosua R, Florez JC, Gabriel SB, Getz G, Glatt SJ, Hultman CM, Kathiresan S, Laakso M, McCarroll S, McCarthy MI, McGovern D, McPherson R, Neale BM, Palotie A, Purcell SM, Saleheen D, Scharf JM, Sklar P, Sullivan PF, Tuomilehto J, Tsuang MT, Watkins HC, Wilson JG, Daly MJ, MacArthur DG, Abboud HE, Abecasis G, Aguilar-Salinas CA, Arellano-Campos O, Atzmon G, Aukrust I, Barr CL, Bell GI, Bell GI, Bergen S, Bjørkhaug L, Blangero J, Bowden DW, Budman CL, Burtt NP, Centeno-Cruz F, Chambers JC, Chambert K, Clarke R, Collins R, Coppola G, Córdova EJ, Cortes ML, Cox NJ, Duggirala R, Farrall M, Fernandez-Lopez JC, Fontanillas P, Frayling TM, Freimer NB, Fuchsberger C, García-Ortiz H, Goel A, Gómez-Vázquez MJ, González-Villalpando ME, González-Villalpando C, Grados MA, Groop L, Haiman CA, Hanis CL, Hanis CL, Hattersley AT, Henderson BE, Hopewell JC, Huerta-Chagoya A, Islas-Andrade S, Jacobs SB, Jalilzadeh S, Jenkinson CP, Moran J, Jiménez-Morale S, Kähler A, King RA, Kirov G, Kooner JS, Kyriakou T, Lee JY, Lehman DM, Lyon G, MacMahon W, Magnusson PK, Mahajan A, Marrugat J, Martínez-Hernández A, Mathews CA, McVean G, Meigs JB, Meitinger T, Mendoza-Caamal E, Mercader JM,Mohlke KL, Moreno-Macías H, Morris AP, Najmi LA, Njølstad PR, O'Donovan MC, Ordoń ez-Sańchez ML, Owen MJ, Park T, Pauls DL, Posthuma D, Revilla-Monsalve C, Riba L, Ripke S, Rodríguez- Guillén R, Rodríguez-Torres M, Sandor P, Seielstad M, Sladek R, Soberoń X, Spector TD, Tai SE, Teslovich TM,WalfordG,Wilkens LR, Williams AL. Analysis of protein-coding genetic variation in 60,706 humans. Nature 2016;536(7616):285-291.
-
(2016)
Nature
, vol.536
, Issue.7616
, pp. 285-291
-
-
Lek, M.1
Karczewski, K.J.2
Minikel, E.V.3
Samocha, K.E.4
Banks, E.5
Fennell, T.6
O'Donnell-Luria, A.H.7
Ware, J.S.8
Hill, A.J.9
Cummings, B.B.10
Tukiainen, T.11
Birnbaum, D.P.12
Kosmicki, J.A.13
Duncan, L.E.14
Estrada, K.15
Zhao, F.16
Zou, J.17
Pierce-Hoffman, E.18
Berghout, J.19
Cooper, D.N.20
Deflaux, N.21
DePristo, M.22
Do, R.23
Flannick, J.24
Fromer, M.25
Gauthier, L.26
Goldstein, J.27
Gupta, N.28
Howrigan, D.29
Kiezun, A.30
Kurki, M.I.31
Moonshine, A.L.32
Natarajan, P.33
Orozco, L.34
Peloso, G.M.35
Poplin, R.36
Ma, R.37
Ruano-Rubio, V.38
Rose, S.A.39
Ruderfer, D.M.40
Shakir, K.41
Stenson, P.D.42
Stevens, C.43
Thomas, B.P.44
Tiao, G.45
Tusie-Luna, M.T.46
Weisburd, B.47
Won, H.H.48
Yu, D.49
Altshuler, D.M.50
Ardissino, D.51
Boehnke, M.52
Danesh, J.53
Donnelly, S.54
Elosua, R.55
Florez, J.C.56
Gabriel, S.B.57
Getz, G.58
Glatt, S.J.59
Hultman, C.M.60
Kathiresan, S.61
Laakso, M.62
McCarroll, S.63
McCarthy, M.I.64
McGovern, D.65
McPherson, R.66
Neale, B.M.67
Palotie, A.68
Purcell, S.M.69
Saleheen, D.70
Scharf, J.M.71
Sklar, P.72
Sullivan, P.F.73
Tuomilehto, J.74
Tsuang, M.T.75
Watkins, H.C.76
Wilson, J.G.77
Daly, M.J.78
MacArthur, D.G.79
Abboud, H.E.80
Abecasis, G.81
Aguilar-Salinas, C.A.82
Arellano-Campos, O.83
Atzmon, G.84
Aukrust, I.85
Barr, C.L.86
Bell, G.I.87
Bell, G.I.88
Bergen, S.89
Bjørkhaug, L.90
Blangero, J.91
Bowden, D.W.92
Budman, C.L.93
Burtt, N.P.94
Centeno-Cruz, F.95
Chambers, J.C.96
Chambert, K.97
Clarke, R.98
Collins, R.99
more..
-
21
-
-
84951114274
-
Proteomic data on the nuclear interactome of human MCM9
-
Hutchins JR, Traver S, Coulombe P, Peiffer I, Kitzmann M, Latreille D,Méchali M. Proteomic data on the nuclear interactome of human MCM9. Data Brief. 2016;6:410-415.
-
(2016)
Data Brief
, vol.6
, pp. 410-415
-
-
Hutchins, J.R.1
Traver, S.2
Coulombe, P.3
Peiffer, I.4
Kitzmann, M.5
Latreille, D.6
Méchali, M.7
-
22
-
-
84940890030
-
MCM9 is required for mammalian DNA mismatch repair
-
Traver S, Coulombe P, Peiffer I, Hutchins JR, Kitzmann M, Latreille D, Méchali M. MCM9 is required for mammalian DNA mismatch repair. Mol Cell. 2015;59(5):831-839.
-
(2015)
Mol Cell
, vol.59
, Issue.5
, pp. 831-839
-
-
Traver, S.1
Coulombe, P.2
Peiffer, I.3
Hutchins, J.R.4
Kitzmann, M.5
Latreille, D.6
Méchali, M.7
-
23
-
-
84938089266
-
MCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex
-
Lee KY, Im JS, Shibata E, Park J, Handa N, Kowalczykowski SC, Dutta A. MCM8-9 complex promotes resection of double-strand break ends by MRE11-RAD50-NBS1 complex. Nat Commun. 2015;6:7744.
-
(2015)
Nat Commun
, vol.6
, pp. 7744
-
-
Lee, K.Y.1
Im, J.S.2
Shibata, E.3
Park, J.4
Handa, N.5
Kowalczykowski, S.C.6
Dutta, A.7
-
24
-
-
0032037422
-
The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis
-
Yoshida K, Kondoh G, Matsuda Y, Habu T, Nishimune Y, Morita T. The mouse RecA-like gene Dmc1 is required for homologous chromosome synapsis during meiosis. Mol Cell. 1998;1(5): 707-718.
-
(1998)
Mol Cell
, vol.1
, Issue.5
, pp. 707-718
-
-
Yoshida, K.1
Kondoh, G.2
Matsuda, Y.3
Habu, T.4
Nishimune, Y.5
Morita, T.6
-
25
-
-
0033105760
-
Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis
-
de Vries SS, Baart EB, Dekker M, Siezen A, de Rooij DG, de Boer P, te Riele H. Mouse MutS-like protein Msh5 is required for proper chromosome synapsis in male and female meiosis. Genes Dev. 1999;13(5):523-531.
-
(1999)
Genes Dev
, vol.13
, Issue.5
, pp. 523-531
-
-
De Vries, S.S.1
Baart, E.B.2
Dekker, M.3
Siezen, A.4
De Rooij, D.G.5
De Boer, P.6
Te Riele, H.7
-
26
-
-
84895433616
-
Mutant cohesin in premature ovarian failure
-
Caburet S, Arboleda VA, Llano E, Overbeek PA, Barbero JL, Oka K, Harrison W, Vaiman D, Ben-Neriah Z, García-Tuñón I, Fellous M, Pendás AM, Veitia RA, Vilain E. Mutant cohesin in premature ovarian failure. N Engl J Med. 2014;370(10):943-949.
-
(2014)
N Engl J Med
, vol.370
, Issue.10
, pp. 943-949
-
-
Caburet, S.1
Arboleda, V.A.2
Llano, E.3
Overbeek, P.A.4
Barbero, J.L.5
Oka, K.6
Harrison, W.7
Vaiman, D.8
Ben-Neriah, Z.9
García-Tuñón, I.10
Fellous, M.11
Pendás, A.M.12
Veitia, R.A.13
Vilain, E.14
-
27
-
-
61449258990
-
Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair
-
Bolcun-Filas E, Hall E, Speed R, Taggart M, Grey C, de Massy B, BenaventeR, Cooke HJ. Mutation of the mouse Syce1 gene disrupts synapsis and suggests a link between synaptonemal complex structural components and DNA repair. PLoS Genet. 2009;5(2): E1000393.
-
(2009)
PLoS Genet
, vol.5
, Issue.2
, pp. e1000393
-
-
Bolcun-Filas, E.1
Hall, E.2
Speed, R.3
Taggart, M.4
Grey, C.5
De Massy, B.6
Benavente, R.7
Cooke, H.J.8
-
28
-
-
38949150124
-
Genetic investigation of four meiotic genes in women with premature ovarian failure
-
Mandon-Pépin B, Touraine P, Kuttenn F, Derbois C, Rouxel A, Matsuda F, Nicolas A, Cotinot C, Fellous M. Genetic investigation of four meiotic genes in women with premature ovarian failure. Eur J Endocrinol. 2007;158(1):107-115.
-
(2007)
Eur J Endocrinol
, vol.158
, Issue.1
, pp. 107-115
-
-
Mandon-Pépin, B.1
Touraine, P.2
Kuttenn, F.3
Derbois, C.4
Rouxel, A.5
Matsuda, F.6
Nicolas, A.7
Cotinot, C.8
Fellous, M.9
-
29
-
-
84907609803
-
Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency
-
de Vries L, Behar DM, Smirin-Yosef P, Lagovsky I, Tzur S, Basel- Vanagaite L. Exome sequencing reveals SYCE1 mutation associated with autosomal recessive primary ovarian insufficiency. J Clin Endocrinol Metab. 2014;99(10):E2129-E2132.
-
(2014)
J Clin Endocrinol Metab
, vol.99
, Issue.10
, pp. E2129-E2132
-
-
De Vries, L.1
Behar, D.M.2
Smirin-Yosef, P.3
Lagovsky, I.4
Tzur, S.5
Basel-Vanagaite, L.6
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