Clinical Genetics

Cover image for Vol. 81 Issue 3

March 2012

Volume 81, Issue 3

Pages 201–302

  1. REVIEWS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Parent of origin effects (pages 201–209)

      A Guilmatre and AJ Sharp

      Version of Record online: 30 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01790.x

    2. Isolated and syndromic forms of congenital anosmia (pages 210–215)

      HG Karstensen and N Tommerup

      Version of Record online: 12 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01776.x

  2. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Reproductive behavior of individuals with increased risk of having a child with retinoblastoma (pages 216–223)

      CJ Dommering, MM Garvelink, AC Moll, J van Dijk, SM Imhof, H Meijers-Heijboer and L Henneman

      Version of Record online: 22 OCT 2011 | DOI: 10.1111/j.1399-0004.2011.01791.x

      Section Editor: Aad Tibben, e-mail: a.Tibben@lumc.nl

  3. ORIGINAL ARTICLES

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. Fabry disease: polymorphic haplotypes and a novel missense mutation in the GLA gene (pages 224–233)

      L Ferri, C Guido, G la Marca, S Malvagia, C Cavicchi, A Fiumara, R Barone, R Parini, D Antuzzi, C Feliciani, A Zampetti, R Manna, S Giglio, CM Della Valle, X Wu, KJ Valenzano, ER Benjamin, MA Donati, R Guerrini, M Genuardi and A Morrone

      Version of Record online: 25 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01689.x

    2. CHD7 mutations causing CHARGE syndrome are predominantly of paternal origin (pages 234–239)

      S Pauli, N von Velsen, P Burfeind, M Steckel, J Mänz, A Buchholz, W Borozdin and J Kohlhase

      Version of Record online: 27 MAY 2011 | DOI: 10.1111/j.1399-0004.2011.01701.x

  4. SHORT REPORTS

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. X-linked Alport syndrome in Hellenic families: Phenotypic heterogeneity and mutations near interruptions of the collagen domain in COL4A5 (pages 240–248)

      P Demosthenous, K Voskarides, K Stylianou, M Hadjigavriel, M Arsali, C Patsias, E Georgaki, P Zirogiannis, C Stavrou, E Daphnis, A Pierides, C Deltas and the Hellenic Nephrogenetics Research Consortium

      Version of Record online: 13 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01647.x

    2. A recurrent 1.71 Mb genomic imbalance at 2q13 increases the risk of developmental delay and dysmorphism (pages 257–264)

      HE Yu, K Hawash, J Picker, J Stoler, D Urion, B-L Wu and Y Shen

      Version of Record online: 7 FEB 2011 | DOI: 10.1111/j.1399-0004.2011.01637.x

    3. Trisomy 7 mosaicism prenatally misdiagnosed and maternal uniparental disomy in a child with pigmentary mosaicism and Russell– Silver syndrome (pages 265–271)

      F Petit, M Holder-Espinasse, B Duban-Bedu, S Bouquillon, O Boute-Benejean, A Bazin, V Rouland, S Manouvrier-Hanu and B Delobel

      Version of Record online: 19 JAN 2011 | DOI: 10.1111/j.1399-0004.2010.01621.x

    4. Novel glucokinase mutations in patients with monogenic diabetes – clinical outline of GCK-MD and potential for founder effect in Slavic population (pages 278–283)

      M Borowiec, K Antosik, W Fendler, G Deja, P Jarosz-Chobot, M Mysliwiec, A Zmyslowska, M Malecki, A Szadkowska and W Mlynarski

      Version of Record online: 18 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01656.x

    5. High prevalence of founder mutations of the succinate dehydrogenase genes in the Netherlands (pages 284–288)

      EF Hensen, N van Duinen, JC Jansen, EPM Corssmit, CMJ Tops, JA Romijn, AHJT Vriends, AGL van der Mey, CJ Cornelisse, P Devilee and JP Bayley

      Version of Record online: 15 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01653.x

    6. A truncating mutation in GPSM2 is associated with recessive non-syndromic hearing loss (pages 289–293)

      KO Yariz, T Walsh, H Akay, D Duman, AC Akkaynak, M-C King and M Tekin

      Version of Record online: 15 MAR 2011 | DOI: 10.1111/j.1399-0004.2011.01654.x

  5. LETTERS TO THE EDITOR

    1. Top of page
    2. REVIEWS
    3. SOCIAL AND BEHAVIOURAL RESEARCH IN CLINICAL GENETICS
    4. ORIGINAL ARTICLES
    5. SHORT REPORTS
    6. LETTERS TO THE EDITOR
    1. PRRX1 is mutated in an otocephalic newborn infant conceived by consanguineous parents (pages 294–297)

      T Çelik, PO Simsek, T Sozen, O Ozyuncu, GE Utine, B Talim, Ş Yiğit, K Boduroglu and D Kamnasaran

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01730.x

    2. Deletion of the paternal allele of the imprinted MEST/PEG1 region in a patient with Silver–Russell syndrome features (pages 298–300)

      T Eggermann, S Spengler, M Begemann, G Binder, K Buiting, B Albrecht and S Spranger

      Version of Record online: 28 DEC 2011 | DOI: 10.1111/j.1399-0004.2011.01719.x

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