Rezultati

Molecular analysis of beta zero-thalassemia intermedia in Sardinia od R. Galanello, E Dessi, MA Melis, Maria Addis, MA Sanna, Maria Cristina Rosatelli, F Argiolu, N. Giagu, MP Turco, Enrico Cacace

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Truncating mutations in the last exon of <i>NOTCH3</i> cause lateral meningocele syndrome od Karen W. Gripp, Katherine Robbins, Nara Sobreira, P. Dane Witmer, Lynne M. Bird, Kristiina Avela, Outi Mäkitie, Daniela Alves, Jacob S. Hogue, Elaine H. Zackai, Kimberly F. Doheny, Deborah L. Stabley, Katia Sol‐Church

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Nonaka myopathy is caused by mutations in the UDP-N-acetylglucosamine-2-epimerase/N-acetylmannosamine kinase gene (GNE) od Tomohiko Kayashima, Hidenori Matsuo, Akira Satoh, Tohru Ohta, Koh-ichiro Yoshiura, Naomichi Matsumoto, Y. Nakane, Norio Niikawa, Tatsuya Kishino

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Familial Mediterranean fever—A review od Mordechai Shohat, Gabrielle J. Halpern

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The spectrum of genetic defects in a panel of 40 Dutch families with symptomatic protein C deficiency type I: heterogeneity and founder effects od PH Reitsma, SR Poort, C.F. Allaart, E Briët, R M Bertina

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Loss-of-Function Ferrochelatase and Gain-of-Function Erythroid-Specific 5-Aminolevulinate Synthase Mutations Causing Erythropoietic Protoporphyria and X-Linked Protoporphyria in No... od Manisha Balwani, Dana Doheny, David F. Bishop, Irina Nazarenko, Makiko Yasuda, Harry A. Dailey, Karl E. Anderson, D. Montgomery Bissell, Joseph R. Bloomer, Herbert L. Bonkovsky, John D. Phillips, Lawrence Liu, Robert J. Desnick

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Mudd’s disease (MAT I/III deficiency): a survey of data for MAT1A homozygotes and compound heterozygotes od Yin‐Hsiu Chien, José E. Abdenur, Federico Baronio, Allison Bannick, Fernando J. Corrales, María L. Couce, Markus G. Donner, Can Fıçıcıoğlu, Cynthia Freehauf, Deborah Frithiof, Garrett Gotway, Koichi Hirabayashi, Floris C. Hofstede, George Hoganson, Wuh‐Liang Hwu, Philip James, Sook Kim, Stanley H. Korman, Robin Lachmann, Harvey L. Levy, Martin Lindner, Lilia Lykopoulou, Ertan Mayatepek, Ania C. Muntau, Yoshiyuki Okano, Kimiyo Raymond, M. Estela Rubio‐Gozalbo, Sabine Scholl‐Bürgi, Andreas Schulze, Rani H. Singh, Sally P. Stabler, Mary Stuy, Janet A. Thomas, Conrad Wagner, William G. Wilson, Saskia B. Wortmann, Shigenori Yamamoto, Maryland Pao, Henk J. Blom

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Fetal haemoglobin levels and haematological characteristics of compound heterozygotes for haemoglobin S and deletional hereditary persistence of fetal haemoglobin od Duyen Ngo, Banu Aygün, Idowu Akinsheye, Jane S. Hankins, Ishir Bhan, Hongyuan Luo, Martin H. Steinberg, David H.K. Chui

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A novel MC4R mutation associated with childhood-onset obesity: A case report od Manpreet Doulla, Adam D. McIntyre, Robert A. Hegele, Patricia Gallego

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The clinical spectrum of homozygous <i>HOXA1</i> mutations od Thomas M. Bosley, Ibrahim A. Alorainy, Mustafa A. Salih, Hesham Aldhalaan, Khaled K. Abu‐Amero, Darren T. Oystreck, Max A. Tischfield, Elizabeth C. Engle, Robert P. Erickson

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Combined Mutation Screening of NKX2-5, GATA4, and TBX5 in Congenital Heart Disease: Multiple Heterozygosity and Novel Mutations od Javier T Granados-Riveron, Mark Pope, Frances Bu’Lock, Christopher Thornborough, Jacqueline Eason, Kerry Setchfield, Ami Ketley, Edwin P. Kirk, Diane Fatkin, Michael P. Feneley, Richard P. Harvey, J. David Brook

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<i>HFE</i> mutations in patients with hereditary haemochromatosis in Sweden od Elsa M. Cardoso, Per Stål, Hagen, José Manuel Cabeda, José Manuel Cabeda, Esin, Maria de Sousa, Hultcrantz

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ELANE Mutations in Cyclic and Severe Congenital Neutropenia od Marshall S. Horwitz, Seth J. Corey, H. Leighton Grimes, Timothy Tidwell

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Homozygous Mutations in the Plasminogen Gene of Two Unrelated Girls With Ligneous Conjunctivitis od Volker Schuster, Anne-Marie Mingers, Silvia Seidenspinner, Z Nüssgens, Tanja Pukrop, Hans Wolfgang Kreth

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Biallelic Mutations in the Autophagy Regulator DRAM2 Cause Retinal Dystrophy with Early Macular Involvement od Mohammed E. El‐Asrag, Panagiotis I. Sergouniotis, Martin McKibbin, Vincent Plagnol, Eamonn Sheridan, Naushin Waseem, Zakia Abdelhamed, Declan J. McKeefry, Kristof Van Schil, James A. Poulter, Colin A. Johnson, Ian Carr, Bart P. Leroy, Elfride De Baere, Chris F. Inglehearn, Andrew R. Webster, Carmel Toomes, Manir Ali, Graeme Black, Georgina Hall, Stuart Ingram, Rachel Gillespie, Simon Ramsden, Forbes D.C. Manson, Alison J. Hardcastle, Michel Michaelides, Michael E. Cheetham, Gavin Arno, Niclas Thomas, Shomi S. Bhattacharya, Tony Moore, Andrea H. Németh, Susan M. Downes, Stefano Lise, Emma Lord

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ALLELIC NEGATIVE COMPLEMENTATION AT THE ABRUPTEX LOCUS OF <i>DROSOPHILA MELANOGASTER</i> od Petter Portin

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Bone Dysplasia as a Key Feature in Three Patients with a Novel Congenital Disorder of Glycosylation (CDG) Type II Due to a Deep Intronic Splice Mutation in TMEM165 od Renate Zeevaert, Francis de Zegher, Luisa Sturiale, Domenico Garozzo, Maria-Helena Smet, Marian Moens, Gert Matthijs, J. Jaeken

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One of the two common mutations causing factor XI deficiency in Ashkenazi Jews (type II) is also prevalent in Iraqi Jews, who represent the ancient gene pool of Jews [see comments] od O Shpilberg, Hava Peretz, Ariella Zivelin, Rivka Yatuv, Angela Chetrit, Tamar Kulka, C Stern, E Weiss, Uri Seligsohn

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Statins for children with familial hypercholesterolemia od Alpo Vuorio, Jaana Kuoppala, Petri T. Kovanen, Steve E. Humphries, Serena Tonstad, Albert Wiegman, Euridiki Drogari, Uma Ramaswami

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Acute liver failure after valproate exposure in patients with<i>POLG1</i>mutations and the prognosis after liver transplantation od Johanna Hynynen, Tuomas Komulainen, Eija Tukiainen, Arno Nordin, Johanna Arola, Reetta Kälviäinen, Leena Jutila, Matias Röyttä, Reetta Hinttala, Kari Majamaa, Heikki Mäkisalo, Johanna Uusimaa

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