-
2
-
-
79952774030
-
New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations
-
Callewaert B, Renard M, Hucthagowder V, Albrecht B, Hausser I, Blair E, Dias C, Albino A, Wachi H, Sato F, Mecham RP, Loeys B, Coucke PJ, De Paepe A, Urban Z. 2011. New insights into the pathogenesis of autosomal-dominant cutis laxa with report of five ELN mutations. Hum Mutat 32:445-455.
-
(2011)
Hum Mutat
, vol.32
, pp. 445-455
-
-
Callewaert, B.1
Renard, M.2
Hucthagowder, V.3
Albrecht, B.4
Hausser, I.5
Blair, E.6
Dias, C.7
Albino, A.8
Wachi, H.9
Sato, F.10
Mecham, R.P.11
Loeys, B.12
Coucke, P.J.13
De Paepe, A.14
Urban, Z.15
-
3
-
-
84857792297
-
FZD6 is a novel gene for human neural tube defects
-
De Marco P, Merello E, Rossi A, Piatelli G, Cama A, Kibar Z, Capra V. 2012. FZD6 is a novel gene for human neural tube defects. Hum Mutat 33:384-390.
-
(2012)
Hum Mutat
, vol.33
, pp. 384-390
-
-
De Marco, P.1
Merello, E.2
Rossi, A.3
Piatelli, G.4
Cama, A.5
Kibar, Z.6
Capra, V.7
-
4
-
-
79951795140
-
Germline gain-of-function mutations of ALK disrupt central nervous system development
-
de Pontual L, Kettaneh D, Gordon CT, Oufadem M, Boddaert N, Lees M, Balu L, Lachassinne E, Petros A, Mollet J, Wilson LC, Munnich A, et al. 2011. Germline gain-of-function mutations of ALK disrupt central nervous system development. Hum Mutat 32:272-276.
-
(2011)
Hum Mutat
, vol.32
, pp. 272-276
-
-
de Pontual, L.1
Kettaneh, D.2
Gordon, C.T.3
Oufadem, M.4
Boddaert, N.5
Lees, M.6
Balu, L.7
Lachassinne, E.8
Petros, A.9
Mollet, J.10
Wilson, L.C.11
Munnich, A.12
-
5
-
-
84861892842
-
Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia
-
Gazda HT, Preti M, Sheen MR, O'Donohue MF, Vlachos A, Davies SM, Kattamis A, Doherty L, Landowski M, Buros C, Ghazvinian R, Sieff CA, et al. 2012. Frameshift mutation in p53 regulator RPL26 is associated with multiple physical abnormalities and a specific pre-rRNA processing defect in Diamond-Blackfan anemia. Hum Mutat 33:1037-1044.
-
(2012)
Hum Mutat
, vol.33
, pp. 1037-1044
-
-
Gazda, H.T.1
Preti, M.2
Sheen, M.R.3
O'Donohue, M.F.4
Vlachos, A.5
Davies, S.M.6
Kattamis, A.7
Doherty, L.8
Landowski, M.9
Buros, C.10
Ghazvinian, R.11
Sieff, C.A.12
-
6
-
-
80054710337
-
Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2
-
Isidor B, Le Merrer M, Exner GU, Pichon O, Thierry G, Guiochon-Mantel A, David A, Cormier-Daire V, Le Caignec C. 2011. Serpentine fibula-polycystic kidney syndrome caused by truncating mutations in NOTCH2. Hum Mutat 32:1239-1242.
-
(2011)
Hum Mutat
, vol.32
, pp. 1239-1242
-
-
Isidor, B.1
Le Merrer, M.2
Exner, G.U.3
Pichon, O.4
Thierry, G.5
Guiochon-Mantel, A.6
David, A.7
Cormier-Daire, V.8
Le Caignec, C.9
-
7
-
-
84863230430
-
Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features
-
Lamb AN, Rosenfeld JA, Neill NJ, Talkowski ME, Blumenthal I, Girirajan S, Keelean-Fuller D, Fan Z, Pouncey J, Stevens C, Mackay-Loder L, Terespolsky D, et al. 2012. Haploinsufficiency of SOX5 at 12p12.1 is associated with developmental delays with prominent language delay, behavior problems, and mild dysmorphic features. Hum Mutat 33:728-740.
-
(2012)
Hum Mutat
, vol.33
, pp. 728-740
-
-
Lamb, A.N.1
Rosenfeld, J.A.2
Neill, N.J.3
Talkowski, M.E.4
Blumenthal, I.5
Girirajan, S.6
Keelean-Fuller, D.7
Fan, Z.8
Pouncey, J.9
Stevens, C.10
Mackay-Loder, L.11
Terespolsky, D.12
-
8
-
-
79551510158
-
A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization
-
Le Guen T, Fichou Y, Nectoux J, Bahi-Buisson N, Rivier F, Boddaert N, Diebold B, Heron D, Chelly J, Bienvenu T. 2011. A missense mutation within the fork-head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization. Hum Mutat 32:E2026-E2035.
-
(2011)
Hum Mutat
, vol.32
-
-
Le Guen, T.1
Fichou, Y.2
Nectoux, J.3
Bahi-Buisson, N.4
Rivier, F.5
Boddaert, N.6
Diebold, B.7
Heron, D.8
Chelly, J.9
Bienvenu, T.10
-
9
-
-
81355148487
-
Enhancer-adoption as a mechanism of human developmental disease
-
Lettice LA, Daniels S, Sweeney E, Venkataraman S, Devenney PS, Gautier P, Morrison H, Fantes J, Hill RE, FitzPatrick DR. 2011. Enhancer-adoption as a mechanism of human developmental disease. Hum Mutat 32:1492-1499.
-
(2011)
Hum Mutat
, vol.32
, pp. 1492-1499
-
-
Lettice, L.A.1
Daniels, S.2
Sweeney, E.3
Venkataraman, S.4
Devenney, P.S.5
Gautier, P.6
Morrison, H.7
Fantes, J.8
Hill, R.E.9
FitzPatrick, D.R.10
-
10
-
-
84865170123
-
Next-generation genetic testing for retinitis pigmentosa
-
Neveling K, Collin RW, Gilissen C, van Huet RA, Visser L, Kwint MP, Gijsen SJ, Zonneveld MN, Wieskamp N, de Ligt J, Siemiatkowska AM, Hoefsloot LH, et al. 2012. Next-generation genetic testing for retinitis pigmentosa. Hum Mutat 33:963-972.
-
(2012)
Hum Mutat
, vol.33
, pp. 963-972
-
-
Neveling, K.1
Collin, R.W.2
Gilissen, C.3
van Huet, R.A.4
Visser, L.5
Kwint, M.P.6
Gijsen, S.J.7
Zonneveld, M.N.8
Wieskamp, N.9
de Ligt, J.10
Siemiatkowska, A.M.11
Hoefsloot, L.H.12
-
11
-
-
77951799158
-
Analysis of genetic inheritance in a family quartet by whole-genome sequencing
-
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. 2010. Analysis of genetic inheritance in a family quartet by whole-genome sequencing. Science 328:636-639.
-
(2010)
Science
, vol.328
, pp. 636-639
-
-
Roach, J.C.1
Glusman, G.2
Smit, A.F.3
Huff, C.D.4
Hubley, R.5
Shannon, P.T.6
Rowen, L.7
Pant, K.P.8
Goodman, N.9
Bamshad, M.10
Shendure, J.11
Drmanac, R.12
Jorde, L.B.13
Hood, L.14
Galas, D.J.15
-
12
-
-
79957608729
-
Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I
-
Rotthier A, Penno A, Rautenstrauss B, Auer-Grumbach M, Stettner GM, Asselbergh B, Van Hoof K, Sticht H, Levy N, Timmerman V, Hornemann T, Janssens K. 2011. Characterization of two mutations in the SPTLC1 subunit of serine palmitoyltransferase associated with hereditary sensory and autonomic neuropathy type I. Hum Mutat 32:E2211-E2225.
-
(2011)
Hum Mutat
, vol.32
-
-
Rotthier, A.1
Penno, A.2
Rautenstrauss, B.3
Auer-Grumbach, M.4
Stettner, G.M.5
Asselbergh, B.6
Van Hoof, K.7
Sticht, H.8
Levy, N.9
Timmerman, V.10
Hornemann, T.11
Janssens, K.12
|