Volume 18; Issue 2

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Human Mutation
Volume 18; Issue 2

Human Mutation

Volume 18; Issue 2

1

Using linked markers to infer the age of a mutation

Bruce Rannala, Giorgio Bertorelle

Journal:

Year:

2001

Language:

english

File:

PDF, 328 KB

english, 2001

2

Novel missense mutations of TMPRSS3 in two consanguineous Tunisian families with non-syndromic autosomal recessive deafness

Saber Masmoudi, Stylianos E. Antonarakis, Torsten Schwede, Abdel Monem Ghorbel, M’hamed Gratri, Marie-Pierre Pappasavas, Mohamed Drira, Amel Elgaied-Boulila, Marie Wattenhofer, Colette Rossier, Hamish

Journal:

Year:

2001

Language:

english

File:

PDF, 575 KB

english, 2001

3

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains

Maria Giuseppina Miano, Francesco Testa, Francesco Filippini, Mariajosè Trujillo, Ivan Conte, Carmela Lanzara, Josè Maria Millán, Carmelilia De Bernardo, Barbara Grammatico, Massimo Mangino, Isabella

Journal:

Year:

2001

Language:

english

File:

PDF, 374 KB

english, 2001

4

Missense polymorphism in the human carboxypeptidase E gene alters enzymatic activity

Hong Chen, Satya Jawahar, Yimei Qian, Quyen Duong, Gayun Chan, Alex Parker, Joanne M. Meyer, Karen J. Moore, Susan Chayen, David J. Gross, Benjamin Glaser, M. Alan Permutt, Lloyd D. Fricker

Journal:

Year:

2001

Language:

english

File:

PDF, 444 KB

english, 2001

5

DHPLC analysis of the MECP2 gene in Italian Rett patients

Piero Nicolao, Massimo Carella, Bruno Giometto, Bruno Tavolato, Riccardo Cattin, Maria Luisa Giovannucci-Uzielli, Marcella Vacca, Floriana Della Regione, Stefania Piva, Stefania Bortoluzzi, Paolo Gasp

Journal:

Year:

2001

Language:

english

File:

PDF, 237 KB

english, 2001

6

Detection of mutations in the COL4A5 gene by SSCP in X-linked Alport syndrome

Jens Michael Hertz, Inger Juncker, Ulf Persson, Gert Matthijs, Jörg Schmidtke, Michael B. Petersen, Margrethe Kjeldsen, Niels Gregersen

Journal:

Year:

2001

Language:

english

File:

PDF, 260 KB

english, 2001

7

Detection of germline mutations in the BRCA1 gene by RNA-based sequencing

Anna Jakubowska, Bohdan Górski, Tomasz Byrski, Tomasz Huzarski, Jacek Gronwald, Janusz Menkiszak, Cezary Cybulski, Tadeusz Debniak, Piotr Hadaczek, Rodney J. Scott, Jan Lubinski

Journal:

Year:

2001

Language:

english

File:

PDF, 305 KB

english, 2001

8

A new PCR assay useful for screening of FRAXE/FMR2 mental impairment among males

C.B. Santos, M.A. Costa Lima, M.M.G. Pimentel

Journal:

Year:

2001

Language:

english

File:

PDF, 199 KB

english, 2001

9

Characterization of 11 novel mutations in the X-linked chronic granulomatous disease (CYBB gene)

Bénédicte Gérard, Jamel El Benna, Françoise Alcain, Marie-Anne Gougerot-Pocidalo, Bernard Grandchamp, Sylvie Chollet-Martin

Journal:

Year:

2001

Language:

english

File:

PDF, 19 KB

english, 2001

10

Evidence of a founder mutation of BRCA1 in a highly homogeneous population from southern Italy with breast/ovarian cancer

Francesco Baudi, Barbara Quaresima, Cristina Grandinetti, Giovanni Cuda, Concetta Faniello, Pierfrancesco Tassone, Vito Barbieri, Roberta Bisegna, Enrico Ricevuto, Serafino Conforti, Alessandra Viel,

Journal:

Year:

2001

Language:

english

File:

PDF, 140 KB

english, 2001

11

Four novel mutations in the RPE65 gene in patients with Leber congenital amaurosis

Marcia J. Simovich, Beverly Miller, Hany Ezzeldin, Bryan T. Kirkland, Genevieve McLeod, Chere Fulmer, Jeremy Nathans, Samuel G. Jacobson, Steven J. Pittler

Journal:

Year:

2001

Language:

english

File:

PDF, 23 KB

english, 2001

12

Molecular analysis of 40 Italian patients with mucopolysaccharidosis type II: New mutations in the iduronate-2-sulfatase (IDS) gene

Mirella Filocamo, Gloria Bonuccelli, Fabio Corsolini, Raffaella Mazzotti, Roberto Cusano, Rosanna Gatti

Journal:

Year:

2001

Language:

english

File:

PDF, 34 KB

english, 2001

13

Expression and analysis of CLN2 variants in CHO cells: Q100r represents a polymorphism, and G389E and R447H represent loss-of-function mutations

Li Lin, Peter Lobel

Journal:

Year:

2001

Language:

english

File:

PDF, 83 KB

english, 2001

14

Identification of recurrent and novel mutations in the LDL receptor gene in German patients with familial hypercholesterolemia

M.S. Nauck, W. Köster, K. Dörfer, J. Eckes, H. Scharnagl, H. Gierens, H. Nissen, M.A. Nauck, H. Wieland, Winfried März

Journal:

Year:

2001

Language:

english

File:

PDF, 58 KB

english, 2001

15

Analysis of the entire coding region of the cystic fibrosis transmembrane regulator gene in idiopathic pancreatitis

Carlo Castellani, Macarena Gomez Lira, Luca Frulloni, Antonella Delmarco, Maria Marzari, Alberto Bonizzato, Giorgio Cavallini, PierFranco Pignatti, Gianni Mastella

Journal:

Year:

2001

Language:

english

File:

PDF, 34 KB

english, 2001

16

Population screening if F508del (ΔF508), the most frequent mutation in the CFTR gene associated with cystic fibrosis in Argentina

María Roqué, Clara Pott Godoy, Mariana Castellanos, Eduardo Pusiol, Luis S. Mayorga

Journal:

Year:

2001

Language:

english

File:

PDF, 35 KB

english, 2001