Volume 10; Issue 4

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Genetic Testing
Volume 10; Issue 4

Genetic Testing

Volume 10; Issue 4

1

Strategy for Comprehensive Molecular Testing for Duchenne and Becker Muscular Dystrophies

Stockley, Tracy L., Akber, Sarah, Bulgin, Natalie, Ray, Peter N.

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 3.70 MB

english, 2006

2

Characterization of Missense Mutations and Large Deletions in the ALPL Gene by Sequencing and Quantitative Multiplex PCR of Short Fragments

Spentchian, Marc, Brun-Heath, Isabelle, Taillandier, Agnès, Fauvert, Delphine, Serre, Jean-Louis, Simon-Bouy, Brigitte, Carvalho, Filipa, Grochova, Ilga, Mehta, Sarju G., Müller, Grit, Oberstein, Sask

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 1.11 MB

english, 2006

3

High Frequency of 35delG GJB2 Mutation and Absence of del( GJB6-D13S1830 ) in Greek Cypriot Patients with Nonsyndromic Hearing Loss

Neocleous, Vassos, Aspris, Andreas, Shahpenterian, Vasken, Nicolaou, Vassos, Panagi, Charalambos, Ioannou, Ioannis, Kyamides, Yiannis, Anastasiadou, Violetta, Phylactou, Leonidas A.

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 145 KB

english, 2006

4

Screening of 99 Danish Patients with Congenital Heart Disease for GATA4 Mutations

Zhang, Litu, Tümer, Zeynep, Jacobsen, Joes Ramsøe, Andersen, Paal Skytt, Tommerup, Niels, Larsen, Lars Allan

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 68 KB

english, 2006

5

Rapid and Efficient FBN1 Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy

Tjeldhorn, Lena, Rand-Hendriksen, Svend, Gervin, Kristina, Brandal, Kristin, Inderhaug, Elin, Geiran, Odd, Paus, Benedicte

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 1.19 MB

english, 2006

6

Rapid and Efficient FBN1 Mutation Detection Using Automated Sample Preparation and Direct Sequencing As the Primary Strategy

Tjeldhorn, Lena, Rand-Hendriksen, Svend, Gervin, Kristina, Brandal, Kristin, Inderhaug, Elin, Geiran, Odd, Paus, Benedicte

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 128 KB

english, 2006

7

Genetic Screening for Two LRRK2 Mutations in French Patients with Idiopathic Parkinson's Disease

Funalot, Benoît, Nichols, William C., Pérez-Tur, Jordi, Mercier, Géraldine, Lucotte, Gérard

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 68 KB

english, 2006

8

Prenatal and Postnatal Characterization of a De Novo Xq22.1 Terminal Deletion

Vaglio, Alicia, Greif, Gonzalo, Bernal, Mery, Sanguinetti, Carlos, Mechoso, Búrix, Quadrelli, Andrea, Tucci, Paula, Milunsky, Jeff M., Huang, Xin-Li, Pagano, Sinthia, Quadrelli, Roberto

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 3.92 MB

english, 2006

9

Screening for Partial Deletions in the CREBBP Gene in Rubinstein–Taybi Syndrome Patients Using Multiplex PCR/Liquid Chromatography

Udaka, Toru, Kurosawa, Kenji, Izumi, Kosuke, Yoshida, Shinobu, Tsukahara, Masato, Okamoto, Nobuhiko, Torii, Chiharu, Kosaki, Rika, Masuno, Mitsuo, Hosokai, Noboru, Takahashi, Takao, Kosaki, Kenjiro

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 5.45 MB

english, 2006

10

Lack of Germ-Line Promoter Methylation in BRCA1 -Negative Families with Familial Breast Cancer

Chen, Ying, Toland, Amanda E., McLennan, Jane, Fridlyand, Jane, Crawford, Beth, Costello, Dr. Joseph F., Ziegler, John L.

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 161 KB

english, 2006

11

Screening for CHARGE Syndrome Mutations in the CHD7 Gene Using Denaturing High-Performance Liquid Chromatography

Aramaki, Michihiko, Udaka, Toru, Torii, Chiharu, Samejima, Hazuki, Kosaki, Rika, Takahashi, Takao, Kosaki, Kenjiro

Journal:

Genetic Testing

Year:

2006

Language:

english

File:

PDF, 1.30 MB

english, 2006