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Human Mutation Volume 32 Issue 2

2013
- Volume 34
2012
- Volume 33
2011
- Volume 32
2010
- Volume 31
2009
- Volume 30
2008
- Volume 29
2007
- Volume 28
2006
- Volume 27
2005
- Volume 26
- Volume 25
2004
- Volume 24
- Volume 23
2003
- Volume 22
- Volume 21
2002
- Volume 20
- Volume 19
2001
- Volume 18
- Volume 17
2000
- Volume 16
- Volume 15
1999
- Volume 14
- Volume 13
1998
- Volume 12
- Volume 11
1997
- Volume 10
- Volume 9
1996
- Volume 8
- Volume 7
1995
- Volume 6
- Volume 5
1994
- Volume 4
- Volume 3
1993
- Volume 2
1992
- Volume 1

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Dependence of colorectal cancer risk on the parent‐of‐origin of mutations in DNA mismatch repair genes

van Vliet, Christine M.; Dowty, James G.; van Vliet, Jane L.; Smith, Letitia; Mead, Leeanne J.; Macrae, Finlay A.; John, D. James B. St.; Giles, Graham G.; Southey, Melissa C.; Jenkins, Mark A.; Velan, Gary M.; Hopper, John L.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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Understanding the Underlying Pathological Mechanism of Mutations Located in 3′ Splice Sites and Adjacent Exonic Regions

Pérez, Belén

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors

Rodriguez‐Nieto, Salvador; Cañada, Andres; Pros, Eva; Pinto, Ana I.; Torres‐Lanzas, Juan; Lopez‐Rios, Fernando; Sanchez‐Verde, Lydia; Pisano, David G.; Sanchez‐Cespedes, Montse

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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Meiotic recombination favors the spreading of deleterious mutations in human populations

Necşulea, Anamaria; Popa, Alexandra; Cooper, David N.; Stenson, Peter D.; Mouchiroud, Dominique; Gautier, Christian; Duret, Laurent

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1)

Messiaen, Ludwine; Vogt, Julia; Bengesser, Kathrin; Fu, Chuanhua; Mikhail, Fady; Serra, Eduard; Garcia‐Linares, Carles; Cooper, David N.; Lazaro, Conxi; Kehrer‐Sawatzki, Hildegard

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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Tiling resolution array‐CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

Szuhai, Károly; Jennes, Ivy; de Jong, Danielle; Bovée, Judith V.M.G.; Wiweger, Malgorzata; Wuyts, Wim; Hogendoorn, Pancras C.W.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Paulussen, Aimée D. C.; Stegmann, Alexander P. A.; Blok, Marinus J.; Tserpelis, Demis; Posma‐Velter, Crool; Detisch, Yvonne; Smeets, Eric E. J. G. L.; Wagemans, Annemieke; Schrander, Jaap J. P.; van den Boogaard, Marie‐José H.; van der Smagt, Jasper; van Haeringen, Arie; Stolte‐Dijkstra, Irene; Kerstjens‐Frederikse, Wilhelmina S.; Mancini, Grazia M.; Wessels, Marja W.; Hennekam, Raoul C. M.; Vreeburg, Maaike; Geraedts, Joep; de Ravel, Thomy; Fryns, Jean‐Pierre; Smeets, Hubert J.; Devriendt, Koenraad; Schrander‐Stumpel, Constance T. R. M.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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A missense mutation within the fork‐head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

Guen, Tangui Le; Fichou, Yann; Nectoux, Juliette; Bahi‐Buisson, Nadia; Rivier, François; Boddaert, Nathalie; Diebold, Bertrand; Héron, Delphine; Chelly, Jamel; Bienvenu, Thierry

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes

Parkin, J. Des; San Antonio, James D.; Pedchenko, Vadim; Hudson, Billy; Jensen, Shane T.; Savige, Judy

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011
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SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site

Koed Doktor, Thomas; Schroeder, Lisbeth Dahl; Vested, Anne; Palmfeldt, Johan; Andersen, Henriette Skovgaard; Gregersen, Niels; Andresen, Brage Storstein

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Human Mutation Volume 32 Issue 2

Dependence of colorectal cancer risk on the parent‐of‐origin of mutations in DNA mismatch repair genes

van Vliet, Christine M.; Dowty, James G.; van Vliet, Jane L.; Smith, Letitia; Mead, Leeanne J.; Macrae, Finlay A.; John, D. James B. St.; Giles, Graham G.; Southey, Melissa C.; Jenkins, Mark A.; Velan, Gary M.; Hopper, John L.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Understanding the Underlying Pathological Mechanism of Mutations Located in 3′ Splice Sites and Adjacent Exonic Regions

Pérez, Belén

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Massive parallel DNA pyrosequencing analysis of the tumor suppressor BRG1/SMARCA4 in lung primary tumors

Rodriguez‐Nieto, Salvador; Cañada, Andres; Pros, Eva; Pinto, Ana I.; Torres‐Lanzas, Juan; Lopez‐Rios, Fernando; Sanchez‐Verde, Lydia; Pisano, David G.; Sanchez‐Cespedes, Montse

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Meiotic recombination favors the spreading of deleterious mutations in human populations

Necşulea, Anamaria; Popa, Alexandra; Cooper, David N.; Stenson, Peter D.; Mouchiroud, Dominique; Gautier, Christian; Duret, Laurent

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Mosaic type‐1 NF1 microdeletions as a cause of both generalized and segmental neurofibromatosis type‐1 (NF1)

Messiaen, Ludwine; Vogt, Julia; Bengesser, Kathrin; Fu, Chuanhua; Mikhail, Fady; Serra, Eduard; Garcia‐Linares, Carles; Cooper, David N.; Lazaro, Conxi; Kehrer‐Sawatzki, Hildegard

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Tiling resolution array‐CGH shows that somatic mosaic deletion of the EXT gene is causative in EXT gene mutation negative multiple osteochondromas patients

Szuhai, Károly; Jennes, Ivy; de Jong, Danielle; Bovée, Judith V.M.G.; Wiweger, Malgorzata; Wuyts, Wim; Hogendoorn, Pancras C.W.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

MLL2 mutation spectrum in 45 patients with Kabuki syndrome

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

A missense mutation within the fork‐head domain of the forkhead box G1 Gene (FOXG1) affects its nuclear localization

Guen, Tangui Le; Fichou, Yann; Nectoux, Juliette; Bahi‐Buisson, Nadia; Rivier, François; Boddaert, Nathalie; Diebold, Bertrand; Héron, Delphine; Chelly, Jamel; Bienvenu, Thierry

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Mapping structural landmarks, ligand binding sites, and missense mutations to the collagen IV heterotrimers predicts major functional domains, novel interactions, and variation in phenotypes in inherited diseases affecting basement membranes

Parkin, J. Des; San Antonio, James D.; Pedchenko, Vadim; Hudson, Billy; Jensen, Shane T.; Savige, Judy

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

SMN2 exon 7 splicing is inhibited by binding of hnRNP A1 to a common ESS motif that spans the 3′ splice site

Koed Doktor, Thomas; Schroeder, Lisbeth Dahl; Vested, Anne; Palmfeldt, Johan; Andersen, Henriette Skovgaard; Gregersen, Niels; Andresen, Brage Storstein

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

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Human Mutation Volume 32 Issue 2

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van Vliet, Christine M.; Dowty, James G.; van Vliet, Jane L.; Smith, Letitia; Mead, Leeanne J.; Macrae, Finlay A.; John, D. James B. St.; Giles, Graham G.; Southey, Melissa C.; Jenkins, Mark A.; Velan, Gary M.; Hopper, John L.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Rodriguez‐Nieto, Salvador; Cañada, Andres; Pros, Eva; Pinto, Ana I.; Torres‐Lanzas, Juan; Lopez‐Rios, Fernando; Sanchez‐Verde, Lydia; Pisano, David G.; Sanchez‐Cespedes, Montse

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Necşulea, Anamaria; Popa, Alexandra; Cooper, David N.; Stenson, Peter D.; Mouchiroud, Dominique; Gautier, Christian; Duret, Laurent

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Messiaen, Ludwine; Vogt, Julia; Bengesser, Kathrin; Fu, Chuanhua; Mikhail, Fady; Serra, Eduard; Garcia‐Linares, Carles; Cooper, David N.; Lazaro, Conxi; Kehrer‐Sawatzki, Hildegard

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Szuhai, Károly; Jennes, Ivy; de Jong, Danielle; Bovée, Judith V.M.G.; Wiweger, Malgorzata; Wuyts, Wim; Hogendoorn, Pancras C.W.

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Guen, Tangui Le; Fichou, Yann; Nectoux, Juliette; Bahi‐Buisson, Nadia; Rivier, François; Boddaert, Nathalie; Diebold, Bertrand; Héron, Delphine; Chelly, Jamel; Bienvenu, Thierry

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Parkin, J. Des; San Antonio, James D.; Pedchenko, Vadim; Hudson, Billy; Jensen, Shane T.; Savige, Judy

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011

Koed Doktor, Thomas; Schroeder, Lisbeth Dahl; Vested, Anne; Palmfeldt, Johan; Andersen, Henriette Skovgaard; Gregersen, Niels; Andresen, Brage Storstein

Follow Human Mutation , Volume 32 (2) Wiley – Feb 1, 2011