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Human Mutation Volume 14 Issue 5

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
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Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Marlin, Sandrine; Blanchard, Stéphane; Slim, Rima; Lacombe, Didier; Denoyelle, Françoise; Alessandri, Jean‐Louis; Calzolari, Elisa; Drouin‐Garraud, Valérie; Ferraz, F.G.; Fourmaintraux, Alain; Philip, Nicole; Toublanc, Jean‐Edmond; Petit, Christine

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Niida, Yo; Lawrence‐Smith, Nicole; Banwell, Ashleigh; Hammer, Erica; Lewis, Janine; Beauchamp, Roberta L.; Sims, Katherine; Ramesh, Vijaya; Ozelius, Laurie

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal‐Coloboma syndrome

Schimmenti, Lisa A.; Shim, Heather H.; Wirtschafter, Jonathan D.; Panzarino, Valerie A.; Kashtan, Clifford E.; Kirkpatrick, Susan J.; Wargowski, David S.; France, Thomas D.; Michel, Eduard; Dobyns, William B.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Jagged‐1 mutation analysis in Italian Alagille syndrome patients

Pilia, Giuseppe; Uda, Manuela; Macis, Dolores; Frau, Fulvia; Crisponi, Laura; Balli, Fiorella; Barbera, Cristiana; Colombo, Carla; Frediani, Tullio; Gatti, Rosanna; Iorio, Raffaele; Marazzi, M. Grazia; Marcellini, Matilde; Musumeci, Salvatore; Nebbia, Gabriella; Vajro, Pietro; Ruffa, Giuseppe; Zancan, Lucia; Cao, Antonio; DeVirgilis, Stefano

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Hiriyanna, Kelaginamane T.; Bingham, Eve L.; Yashar, Beverly M.; Ayyagari, Radha; Fishman, Gerald; Small, Kent W.; Weinberg, David V.; Weleber, Richard G.; Lewis, Richard A.; Andreasson, Sten; Richards, Julia E.; Sieving, Paul A.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

Brugnoni, Raffaella; Galantini, Stefania; Confalonieri, Paolo; Balestrini, Maria Rosa; Cornelio, Ferdinando; Mantegazza, Renato

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case

Halsall, David J.; Halligan, Eugene P.; Elsey, Terence S.; Cox, Timothy M.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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A polymorphic microsatellite XNP‐GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

Lévy, Nicolas; Bernard‐Bronsard, Rafaëlle; Lossi, Anne‐Marie; Colleaux, Laurence; Cardoso, Carlos; Villard, Laurent; Fontés, Michel

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree

Khoo, A.S.B.; Balraj, P.; Rachedi, A.; Chin, C.N.; Volpi, L.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999
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Two novel mutations in the MPZ gene coding region in Charcot‐Marie‐Tooth type 1 patients of Turkish origin: S54P, (I30del; GVYI29ins)

Bissar‐Tadmouri, Nisrine; Gulsen‐Parman, Yesim; Latour, Philippe; Deymeer, Feza; Serdaroglu, Piraye; Vandenberghe, Antoon; Battaloglu, Esra

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Human Mutation Volume 14 Issue 5

Townes‐Brocks syndrome: Detection of a SALL1 mutation hot spot and evidence for a position effect in one patient

Marlin, Sandrine; Blanchard, Stéphane; Slim, Rima; Lacombe, Didier; Denoyelle, Françoise; Alessandri, Jean‐Louis; Calzolari, Elisa; Drouin‐Garraud, Valérie; Ferraz, F.G.; Fourmaintraux, Alain; Philip, Nicole; Toublanc, Jean‐Edmond; Petit, Christine

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Analysis of both TSC1 and TSC2 for germline mutations in 126 unrelated patients with tuberous sclerosis

Niida, Yo; Lawrence‐Smith, Nicole; Banwell, Ashleigh; Hammer, Erica; Lewis, Janine; Beauchamp, Roberta L.; Sims, Katherine; Ramesh, Vijaya; Ozelius, Laurie

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Homonucleotide expansion and contraction mutations of PAX2 and inclusion of Chiari 1 malformation as part of Renal‐Coloboma syndrome

Schimmenti, Lisa A.; Shim, Heather H.; Wirtschafter, Jonathan D.; Panzarino, Valerie A.; Kashtan, Clifford E.; Kirkpatrick, Susan J.; Wargowski, David S.; France, Thomas D.; Michel, Eduard; Dobyns, William B.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Jagged‐1 mutation analysis in Italian Alagille syndrome patients

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Novel mutations in XLRS1 causing retinoschisis, including first evidence of putative leader sequence change

Hiriyanna, Kelaginamane T.; Bingham, Eve L.; Yashar, Beverly M.; Ayyagari, Radha; Fishman, Gerald; Small, Kent W.; Weinberg, David V.; Weleber, Richard G.; Lewis, Richard A.; Andreasson, Sten; Richards, Julia E.; Sieving, Paul A.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Identification of three novel mutations in the major human skeletal muscle chloride channel gene (CLCN1), causing myotonia congenita

Brugnoni, Raffaella; Galantini, Stefania; Confalonieri, Paolo; Balestrini, Maria Rosa; Cornelio, Ferdinando; Mantegazza, Renato

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Metachromatic leucodystrophy: a newly identified mutation in arylsulphatase A, D281Y, found as a compound heterozygote with I179L in an adult onset case

Halsall, David J.; Halligan, Eugene P.; Elsey, Terence S.; Cox, Timothy M.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

A polymorphic microsatellite XNP‐GT in the XNP/ATRX gene's promotor allows familial indirect diagnosis

Lévy, Nicolas; Bernard‐Bronsard, Rafaëlle; Lossi, Anne‐Marie; Colleaux, Laurence; Cardoso, Carlos; Villard, Laurent; Fontés, Michel

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

A novel complex mutation of the OTC (ornithine transcarbamylase) gene in a Malaysian pedigree

Khoo, A.S.B.; Balraj, P.; Rachedi, A.; Chin, C.N.; Volpi, L.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Two novel mutations in the MPZ gene coding region in Charcot‐Marie‐Tooth type 1 patients of Turkish origin: S54P, (I30del; GVYI29ins)

Bissar‐Tadmouri, Nisrine; Gulsen‐Parman, Yesim; Latour, Philippe; Deymeer, Feza; Serdaroglu, Piraye; Vandenberghe, Antoon; Battaloglu, Esra

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

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Human Mutation Volume 14 Issue 5

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Marlin, Sandrine; Blanchard, Stéphane; Slim, Rima; Lacombe, Didier; Denoyelle, Françoise; Alessandri, Jean‐Louis; Calzolari, Elisa; Drouin‐Garraud, Valérie; Ferraz, F.G.; Fourmaintraux, Alain; Philip, Nicole; Toublanc, Jean‐Edmond; Petit, Christine

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Niida, Yo; Lawrence‐Smith, Nicole; Banwell, Ashleigh; Hammer, Erica; Lewis, Janine; Beauchamp, Roberta L.; Sims, Katherine; Ramesh, Vijaya; Ozelius, Laurie

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Schimmenti, Lisa A.; Shim, Heather H.; Wirtschafter, Jonathan D.; Panzarino, Valerie A.; Kashtan, Clifford E.; Kirkpatrick, Susan J.; Wargowski, David S.; France, Thomas D.; Michel, Eduard; Dobyns, William B.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Hiriyanna, Kelaginamane T.; Bingham, Eve L.; Yashar, Beverly M.; Ayyagari, Radha; Fishman, Gerald; Small, Kent W.; Weinberg, David V.; Weleber, Richard G.; Lewis, Richard A.; Andreasson, Sten; Richards, Julia E.; Sieving, Paul A.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Brugnoni, Raffaella; Galantini, Stefania; Confalonieri, Paolo; Balestrini, Maria Rosa; Cornelio, Ferdinando; Mantegazza, Renato

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Halsall, David J.; Halligan, Eugene P.; Elsey, Terence S.; Cox, Timothy M.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Lévy, Nicolas; Bernard‐Bronsard, Rafaëlle; Lossi, Anne‐Marie; Colleaux, Laurence; Cardoso, Carlos; Villard, Laurent; Fontés, Michel

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Khoo, A.S.B.; Balraj, P.; Rachedi, A.; Chin, C.N.; Volpi, L.

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999

Bissar‐Tadmouri, Nisrine; Gulsen‐Parman, Yesim; Latour, Philippe; Deymeer, Feza; Serdaroglu, Piraye; Vandenberghe, Antoon; Battaloglu, Esra

Follow Human Mutation , Volume 14 (5) Wiley – Nov 1, 1999