Volume 31; Issue 5

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Human Mutation
Volume 31; Issue 5

Human Mutation

Volume 31; Issue 5

1

Genetic analysis of von Hippel-Lindau disease

Morgan Nordstrom-O'Brien, Rob B. van der Luijt, Ellen van Rooijen, Ans M. van den Ouweland, Danielle F. Majoor-Krakauer, Martijn P. Lolkema, Aram van Brussel, Emile E. Voest, Rachel H. Giles

Journal:

Year:

2010

Language:

english

File:

PDF, 397 KB

english, 2010

2

The acquisition of an inheritable 50-bp deletion in the human mtDNA control region does not affect the mtDNA copy number in peripheral blood cells

Rui Bi, A-Mei Zhang, Wen Zhang, Qing-Peng Kong, Bei-Ling Wu, Xiao-Hong Yang, Dong Wang, Yang Zou, Ya-Ping Zhang, Yong-Gang Yao

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Year:

2010

Language:

english

File:

PDF, 299 KB

english, 2010

3

Functional PMS2 hybrid alleles containing a pseudogene-specific missense variant trace back to a single ancient intrachromosomal recombination event

Christina Ganster, Annekatrin Wernstedt, Hildegard Kehrer-Sawatzki, Ludwine Messiaen, Konrad Schmidt, Nils Rahner, Karl Heinimann, Christa Fonatsch, Johannes Zschocke, Katharina Wimmer

Journal:

Year:

2010

Language:

english

File:

PDF, 304 KB

english, 2010

4

Loss-of-function of MYO5B is the main cause of microvillus inclusion disease: 15 novel mutations and a CaCo-2 RNAi cell model

Frank M. Ruemmele, Thomas Müller, Natalia Schiefermeier, Hannes L. Ebner, Silvia Lechner, Kristian Pfaller, Cornelia E. Thöni, Olivier Goulet, Florence Lacaille, Jacques Schmitz, Virginie Colomb, Fréd

Journal:

Year:

2010

Language:

english

File:

PDF, 549 KB

english, 2010

5

Multiple LRRK2 variants modulate risk of Parkinson disease: a chinese multicenter study

Eng-King Tan, Rong Peng, Yik-Ying Teo, Louis C. Tan, Dario Angeles, Patrick Ho, Meng-Ling Chen, Chin-Hsien Lin, Xue-Ye Mao, Xue-Li Chang, Kumar M Prakash, Jian-Jun Liu, Wing-Lok Au, Wei-Dong Le, Josep

Journal:

Year:

2010

Language:

english

File:

PDF, 279 KB

english, 2010

6

Functional evaluation of paraplegin mutations by a yeast complementation assay

Florian Bonn, Krishna Pantakani, Moneef Shoukier, Thomas Langer, Ashraf U. Mannan

Journal:

Year:

2010

Language:

english

File:

PDF, 272 KB

english, 2010

7

Functional analysis of mutations in the ATP loop of the Wilson disease copper transporter, ATP7B

Leiah M. Luoma, Taha M.M. Deeb, Georgina Macintyre, Diane W. Cox

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Year:

2010

Language:

english

File:

PDF, 473 KB

english, 2010

8

Quantification of sequence exchange events between PMS2 and PMS2CL provides a basis for improved mutation scanning of lynch syndrome patients

Heleen M. van der Klift, Carli M.J. Tops, Elsa C. Bik, Merel W. Boogaard, Anne-Marijke Borgstein, Kerstin B.M. Hansson, Margreet G.E.M. Ausems, Encarna Gomez Garcia, Andrew Green, Frederik J. Hes, Lou

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Year:

2010

Language:

english

File:

PDF, 592 KB

english, 2010

9

Clinical analysis of PMS2: mutation detection and avoidance of pseudogenes

Cecily P. Vaughn, Jorge Robles, Jeffrey J. Swensen, Christine E. Miller, Elaine Lyon, Rong Mao, Pinar Bayrak-Toydemir, Wade S. Samowitz

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Year:

2010

Language:

english

File:

PDF, 141 KB

english, 2010

10

Jagged1 (JAG1) mutations in patients with tetralogy of fallot or pulmonic stenosis

Robert C. Bauer, Ayanna O. Laney, Rosemarie Smith, Jennifer Gerfen, Jennifer J.D. Morrissette, Stacy Woyciechowski, Jennifer Garbarini, Kathleen M. Loomes, Ian D. Krantz, Zsolt Urban, Bruce D. Gelb, E

Journal:

Year:

2010

Language:

english

File:

PDF, 276 KB

english, 2010

11

Mutations of a country: a mutation review of single gene disorders in the United Arab Emirates (UAE)

Lihadh Al-Gazali, Bassam R. Ali

Journal:

Year:

2010

Language:

english

File:

PDF, 236 KB

english, 2010

12

FOXL2 copy number changes in the molecular pathogenesis of BPES: unique cohort of 17 deletions

B. D'haene, J. Nevado, M. Pugeat, G. Pierquin, R.B. Lowry, W. Reardon, A. Delicado, S. García-Miñaur, M. Palomares, W. Courtens, M. Stefanova, S. Wallace, W. Watkins, A. N. Shelling, D. Wieczorek, R.

Journal:

Year:

2010

Language:

english

File:

PDF, 2.03 MB

english, 2010

13

Mucopolysaccharidosis type IIID: 12 new patients and 15 novel mutations

Marlies J. Valstar, Aida M. Bertoli-Avella, Marja W. Wessels, George J.G. Ruijter, Bianca de Graaf, Renske Olmer, Peter Elfferich, Sanne Neijs, Roxana Kariminejad, Fatih Suheyl Ezgü, Aysegul Tokatli,

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Year:

2010

Language:

english

File:

PDF, 187 KB

english, 2010

14

Prevalent LIPH founder mutations lead to loss of P2Y5 activation ability of PA-PLA1α in autosomal recessive hypotrichosis

Satoru Shinkuma, Masashi Akiyama, Asuka Inoue, Junken Aoki, Ken Natsuga, Toshifumi Nomura, Ken Arita, Riichiro Abe, Kei Ito, Hideki Nakamura, Hideyuki Ujiie, Akihiko Shibaki, Hiraku Suga, Yuichiro Tsu

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Year:

2010

Language:

english

File:

PDF, 522 KB

english, 2010

15

Prognosis for splicing factor PRPF8 retinitis pigmentosa, novel mutations and correlation between human and yeast phenotypes

Katherine V. Towns, Athina Kipioti, Vernon Long, Martin McKibbin, Cecilia Maubaret, Veronika Vaclavik, Parastoo Ehsani, Kelly Springell, Mohammed Kamal, Raj S. Ramesar, David A. Mackey, Anthony T. Moo

Journal:

Year:

2010

Language:

english

File:

PDF, 440 KB

english, 2010

16

Potassium bromate, a potent DNA oxidizing agent, exacerbates germline repeat expansion in a fragile X premutation mouse model

Ali Entezam, Adihe Rachel Lokanga, Wei Le, Gloria Hoffman, Karen Usdin

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Year:

2010

Language:

english

File:

PDF, 236 KB

english, 2010

17

Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies

Miriam Iannicelli, Francesco Brancati, Soumaya Mougou-Zerelli, Annalisa Mazzotta, Sophie Thomas, Nadia Elkhartoufi, Lorena Travaglini, Céline Gomes, Gian Luigi Ardissino, Enrico Bertini, Eugen Boltsha

Journal:

Year:

2010

Language:

english

File:

PDF, 227 KB

english, 2010

18

De novo truncating FUS gene mutation as a cause of sporadic amyotrophic lateral sclerosis

Mariely DeJesus-Hernandez, Jannet Kocerha, NiCole Finch, Richard Crook, Matt Baker, Pamela Desaro, Amelia Johnston, Nicola Rutherford, Aleksandra Wojtas, Kathleen Kennelly, Zbigniew K. Wszolek, Neill

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Year:

2010

Language:

english

File:

PDF, 441 KB

english, 2010

19

Novel TMPRSS6 mutations associated with iron-refractory iron deficiency anemia (IRIDA)

Luigia De Falco, Francesca Totaro, Antonella Nai, Alessia Pagani, Domenico Girelli, Laura Silvestri, Carmelo Piscopo, Natascia Campostrini, Carlo Dufour, Fahd AL Manjomi, Milen Minkov, Dennis G. Van V

Journal:

Year:

2010

Language:

english

File:

PDF, 441 KB

english, 2010

20

EYS is a major gene for rod-cone dystrophies in France

Isabelle Audo, José-Alain Sahel, Saddek Mohand-Saïd, Marie-Elise Lancelot, Aline Antonio, Veselina Moskova-Doumanova, Emeline F. Nandrot, Jordan Doumanov, Isabel Barragan, Guillermo Antinolo, Shomi S.

Journal:

Year:

2010

Language:

english

File:

PDF, 472 KB

english, 2010

21

The value of countrywide mutation reporting

Richard G.H. Cotton

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Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

22

Toward a cellular model of microvillus inclusion disease

Andrew O.M. Wilkie

Journal:

Year:

2010

Language:

english

File:

PDF, 69 KB

english, 2010

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