Volume 52; Issue 6

Journal of Medical Genetics

Volume 52; Issue 6

1

A novel syndrome of Klippel-Feil anomaly, myopathy, and characteristic facies is linked to a null mutation in MYO18B

Alazami, Anas M, Kentab, Amal Y, Faqeih, Eissa, Mohamed, Jawahir Y, Alkhalidi, Hisham, Hijazi, Hadia, Alkuraya, Fowzan S

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 2.45 MB

english, 2015

2

Rare variants in SOS2 and LZTR1 are associated with Noonan syndrome

Yamamoto, Guilherme Lopes, Aguena, Meire, Gos, Monika, Hung, Christina, Pilch, Jacek, Fahiminiya, Somayyeh, Abramowicz, Anna, Cristian, Ingrid, Buscarilli, Michelle, Naslavsky, Michel Satya, Malaquias

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 390 KB

english, 2015

3

A germline mutation in PBRM1 predisposes to renal cell carcinoma

Benusiglio, Patrick R, Couvé, Sophie, Gilbert-Dussardier, Brigitte, Deveaux, Sophie, Le Jeune, Hélène, Da Costa, Mélanie, Fromont, Gaëlle, Memeteau, Françoise, Yacoub, Mokrane, Coupier, Isabelle, Lero

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 328 KB

english, 2015

4

Familial periventricular nodular heterotopia, epilepsy and Melnick–Needles Syndrome caused by a single FLNA mutation with combined gain-of-function and loss-of-function effects

Parrini, Elena, Mei, Davide, Pisanti, Maria Antonietta, Catarzi, Serena, Pucatti, Daniela, Bianchini, Claudia, Mascalchi, Mario, Bertini, Enrico, Morrone, Amelia, Cavaliere, Maria Luigia, Guerrini, Re

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 1.71 MB

english, 2015

5

Nonsense mutation in the WDR73 gene is associated with Galloway-Mowat syndrome

Ben-Omran, Tawfeg, Fahiminiya, Somayyeh, Sorfazlian, Natalie, Almuriekhi, Mariam, Nawaz, Zafar, Nadaf, Javad, Abu Khadija, Kitam, Zaineddin, Samiha, Kamel, Hussein, Majewski, Jacek, Tropepe, Vincent

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 630 KB

english, 2015

6

Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure

Tenenbaum-Rakover, Yardena, Weinberg-Shukron, Ariella, Renbaum, Paul, Lobel, Orit, Eideh, Hasan, Gulsuner, Suleyman, Dahary, Dvir, Abu-Rayyan, Amal, Kanaan, Moien, Levy-Lahad, Ephrat, Bercovich, Dani,

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 3.03 MB

english, 2015

7

Hereditary diffuse gastric cancer: updated clinical guidelines with an emphasis on germline CDH1 mutation carriers

van der Post, Rachel S, Vogelaar, Ingrid P, Carneiro, Fátima, Guilford, Parry, Huntsman, David, Hoogerbrugge, Nicoline, Caldas, Carlos, Chelcun Schreiber, Karen E, Hardwick, Richard H, Ausems, Margree

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 14.63 MB

english, 2015

8

Bilateral vestibular schwannomas in older patients: NF2 or chance?

Evans, D G, Freeman, S, Gokhale, C, Wallace, A, Lloyd, S K, Axon, P, Ward, C L, Rutherford, S, King, A, Huson, S M, Ramsden, R T

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 258 KB

english, 2015

9

Progressive influence of body mass index-associated genetic markers in rural Gambians

Fulford, Anthony J, Ong, Ken K, Elks, Cathy E, Prentice, Andrew M, Hennig, Branwen J

Journal:

Journal of Medical Genetics

Year:

2015

Language:

english

File:

PDF, 522 KB

english, 2015