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Human Mutation Volume 28 Issue 3

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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Diversity of cystathionine β‐synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Vyletal, Petr; Sokolová, Jitka; Cooper, David N.; Kraus, Jan P.; Krawczak, Michael; Pepe, Guglielmina; Rickards, Olga; Koch, Hans G.; Linnebank, Michael; Kluijtmans, Leo A. J.; Blom, Henk J.; Boers, Godfried H. J.; Gaustadnes, Mette; Skovby, Flemming; Wilcken, Bridget; Wilcken, David E. L.; Andria, Generoso; Sebastio, Gianfranco; Naughten, Eileen R.; Yap, Sufin; Ohura, Toshihiro; Pronicka, Ewa; Laszlo, Aranka; Kožich, Viktor

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Zampino, Giuseppe; Pantaleoni, Francesca; Carta, Claudio; Cobellis, Gilda; Vasta, Isabella; Neri, Cinzia; Pogna, Edgar A.; De Feo, Emma; Delogu, Angelica; Sarkozy, Anna; Atzeri, Francesca; Selicorni, Angelo; Rauen, Katherine A.; Cytrynbaum, Cheryl S.; Weksberg, Rosanna; Dallapiccola, Bruno; Ballabio, Andrea; Gelb, Bruce D.; Neri, Giovanni; Tartaglia, Marco

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Genotype–phenotype correlations in hereditary familial retinoblastoma

Taylor, Melissa; Dehainault, Catherine; Desjardins, Laurence; Doz, François; Levy, Christine; Sastre, Xavier; Couturier, Jérôme; Stoppa‐Lyonnet, Dominique; Houdayer, Claude; Gauthier‐Villars, Marion

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays

Stanczak, Christopher M.; Chen, Zugen; Zhang, Yao‐Hua; Nelson, Stanley F.; McCabe, Edward R.B.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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Transgenic mice carrying the H258N mutation in the gene encoding the β‐subunit of phosphodiesterase‐6 (PDE6B) provide a model for human congenital stationary night blindness

Tsang, Stephen H.; Woodruff, Michael L.; Jun, Lin; Mahajan, Vinit; Yamashita, Clyde K.; Pedersen, Robert; Lin, Chyuan‐Sheng; Goff, Stephen P.; Rosenberg, Thomas; Larsen, Michael; Farber, Debora B.; Nusinowitz, Steven

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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Allelic loss analysis by denaturing high‐performance liquid chromatography and electrospray ionization mass spectrometry

Gross, Eva; Hölzl, Georg; Arnold, Norbert; Hauenstein, Evelyn; Jacobsen, Anja; Schulze, Kathrin; Ramser, Juliane; Meindl, Alfons; Kiechle, Marion; Oefner, Peter J.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Marini, Joan C.; Forlino, Antonella; Cabral, Wayne A.; Barnes, Aileen M.; San Antonio, James D.; Milgrom, Sarah; Hyland, James C.; Körkkö, Jarmo; Prockop, Darwin J.; De Paepe, Anne; Coucke, Paul; Symoens, Sofie; Glorieux, Francis H.; Roughley, Peter J.; Lund, Alan M.; Kuurila‐Svahn, Kaija; Hartikka, Heini; Cohn, Daniel H.; Krakow, Deborah; Mottes, Monica; Schwarze, Ulrike; Chen, Diana; Yang, Kathleen; Kuslich, Christine; Troendle, James; Dalgleish, Raymond; Byers, Peter H.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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The interactive Factor H–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models

Saunders, Rebecca E.; Abarrategui‐Garrido, Cynthia; Frémeaux‐Bacchi, Véronique; Goicoechea de Jorge, Elena; Goodship, Timothy H.J.; López Trascasa, Margarita; Noris, Marina; Ponce Castro, Isabel Maria; Remuzzi, Giuseppe; Rodríguez de Córdoba, Santiago; Sánchez‐Corral, Pilar; Skerka, Christine; Zipfel, Peter F.; Perkins, Stephen J.

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Schimke immunoosseous dysplasia: suggestions of genetic diversity

Clewing, J. Marietta; Fryssira, Helen; Goodman, David; Smithson, Sarah F.; Sloan, Emily A.; Lou, Shu; Huang, Yan; Choi, Kunho; Lücke, Thomas; Alpay, Harika; André, Jean‐Luc; Asakura, Yumi; Biebuyck‐Gouge, Nathalie; Bogdanovic, Radovan; Bonneau, Dominique; Cancrini, Caterina; Cochat, Pierre; Cockfield, Sandra; Collard, Laure; Cordeiro, Isabel; Cormier‐Daire, Valerie; Cransberg, Karlien; Cutka, Karel; Deschenes, Georges; Ehrich, Jochen H.H.; Fründ, Stefan; Georgaki, Helen; Guillen‐Navarro, Encarna; Hinkelmann, Barbara; Kanariou, Maria; Kasap, Belde; Kilic, Sara Sebnem; Lama, Guiliana; Lamfers, Petra; Loirat, Chantal; Majore, Silvia; Milford, David; Morin, Denis; Özdemir, Nihal; Pontz, Bertram F.; Proesmans, Willem; Psoni, Stavroula; Reichenbach, Herbert; Reif, Silke; Rusu, Cristina; Saraiva, Jorge M.; Sakallioglu, Onur; Schmidt, Beate; Shoemaker, Lawrence; Sigaudy, Sabine; Smith, Graham; Sotsiou, Flora; Stajic, Natasa; Stein, Anja; Stray‐Pedersen, Asbjørg; Taha, Doris; Taque, Sophie; Tizard, Jane; Tsimaratos, Michel; Wong, Newton A.C.S.; Boerkoel, Cornelius F.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007
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Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE

Alharbi, Khalid K.; Spanakis, Emmanuel; Tan, Karen; Smith, Matt J.; Aldahmesh, Mohammed A.; O'Dell, Sandra D.; Sayer, Avan Aihie; Lawlor, Debbie A.; Ebrahim, Shah; Davey Smith, George; O'Rahilly, Stephen; Farooqi, Sadaf; Cooper, Cyrus; Phillips, David I.W.; Day, Ian N.M.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Human Mutation Volume 28 Issue 3

Diversity of cystathionine β‐synthase haplotypes bearing the most common homocystinuria mutation c.833T>C: a possible role for gene conversion

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Genotype–phenotype correlations in hereditary familial retinoblastoma

Taylor, Melissa; Dehainault, Catherine; Desjardins, Laurence; Doz, François; Levy, Christine; Sastre, Xavier; Couturier, Jérôme; Stoppa‐Lyonnet, Dominique; Houdayer, Claude; Gauthier‐Villars, Marion

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Deletion mapping in Xp21 for patients with complex glycerol kinase deficiency using SNP mapping arrays

Stanczak, Christopher M.; Chen, Zugen; Zhang, Yao‐Hua; Nelson, Stanley F.; McCabe, Edward R.B.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Transgenic mice carrying the H258N mutation in the gene encoding the β‐subunit of phosphodiesterase‐6 (PDE6B) provide a model for human congenital stationary night blindness

Tsang, Stephen H.; Woodruff, Michael L.; Jun, Lin; Mahajan, Vinit; Yamashita, Clyde K.; Pedersen, Robert; Lin, Chyuan‐Sheng; Goff, Stephen P.; Rosenberg, Thomas; Larsen, Michael; Farber, Debora B.; Nusinowitz, Steven

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Allelic loss analysis by denaturing high‐performance liquid chromatography and electrospray ionization mass spectrometry

Gross, Eva; Hölzl, Georg; Arnold, Norbert; Hauenstein, Evelyn; Jacobsen, Anja; Schulze, Kathrin; Ramser, Juliane; Meindl, Alfons; Kiechle, Marion; Oefner, Peter J.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Consortium for osteogenesis imperfecta mutations in the helical domain of type I collagen: regions rich in lethal mutations align with collagen binding sites for integrins and proteoglycans

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

The interactive Factor H–atypical hemolytic uremic syndrome mutation database and website: update and integration of membrane cofactor protein and Factor I mutations with structural models

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Schimke immunoosseous dysplasia: suggestions of genetic diversity

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Prevalence and functionality of paucimorphic and private MC4R mutations in a large, unselected European British population, scanned by meltMADGE

Alharbi, Khalid K.; Spanakis, Emmanuel; Tan, Karen; Smith, Matt J.; Aldahmesh, Mohammed A.; O'Dell, Sandra D.; Sayer, Avan Aihie; Lawlor, Debbie A.; Ebrahim, Shah; Davey Smith, George; O'Rahilly, Stephen; Farooqi, Sadaf; Cooper, Cyrus; Phillips, David I.W.; Day, Ian N.M.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

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Human Mutation Volume 28 Issue 3

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Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Taylor, Melissa; Dehainault, Catherine; Desjardins, Laurence; Doz, François; Levy, Christine; Sastre, Xavier; Couturier, Jérôme; Stoppa‐Lyonnet, Dominique; Houdayer, Claude; Gauthier‐Villars, Marion

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Stanczak, Christopher M.; Chen, Zugen; Zhang, Yao‐Hua; Nelson, Stanley F.; McCabe, Edward R.B.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Tsang, Stephen H.; Woodruff, Michael L.; Jun, Lin; Mahajan, Vinit; Yamashita, Clyde K.; Pedersen, Robert; Lin, Chyuan‐Sheng; Goff, Stephen P.; Rosenberg, Thomas; Larsen, Michael; Farber, Debora B.; Nusinowitz, Steven

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Gross, Eva; Hölzl, Georg; Arnold, Norbert; Hauenstein, Evelyn; Jacobsen, Anja; Schulze, Kathrin; Ramser, Juliane; Meindl, Alfons; Kiechle, Marion; Oefner, Peter J.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007

Alharbi, Khalid K.; Spanakis, Emmanuel; Tan, Karen; Smith, Matt J.; Aldahmesh, Mohammed A.; O'Dell, Sandra D.; Sayer, Avan Aihie; Lawlor, Debbie A.; Ebrahim, Shah; Davey Smith, George; O'Rahilly, Stephen; Farooqi, Sadaf; Cooper, Cyrus; Phillips, David I.W.; Day, Ian N.M.

Follow Human Mutation , Volume 28 (3) Wiley – Mar 1, 2007