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May 2011 - August 2011

The zebrafish dag1 mutant: a novel genetic model for dystroglycanopathies.

Hum Mol Genet. 2011 May 1;20(9):1712-25. Epub 2011 Feb 4.

Gupta V, Kawahara G, Gundry SR, Chen AT, Lencer WI, Zhou Y, Zon LI, Kunkel LM, Beggs AH.

Genomics Program and Division of Genetics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.

Changes in cross-bridge cycling underlie muscle weakness in patients with tropomyosin 3-based myopathy.

Hum Mol Genet. 2011 May 15;20(10):2015-25. Epub 2011 Feb 28.

Ottenheijm CA, Lawlor MW, Stienen GJ, Granzier H, Beggs AH.

Department of Physiology, Institute for Cardiovascular Research, VU University Medical Center, Amsterdam 1081 BT, The Netherlands.

Ddx18 is essential for cell cycle progression in zebrafish hematopoietic cells and is mutated in human acute myeloid leukemia.

Blood 2011 Jun 7. [Epub ahead of print].

Payne EM, Bolli N, Rhodes J, Abdel-Wahab O, Levine RL, Hedvat C, Stone R, Khanna-Gupta A, Sun H, Kanki J, Gazda HT, Beggs AH, Cotter F, and Look AT.

Department of Pediatric Oncology, Dana-Farber Cancer Institute, Harvard Medical School, Boston, MA.

Phenotypic spectrum of the tubulin-related disorders and functional implications of disease-causing mutations.

Current Opinion in Genetics and Development, 2011 Jun;21(3):286-94.

Tischfield MA, Cederquist GY, Gupta ML, Engle EC.

Department of Molecular Biology and Genetics, Johns Hopkins Medical School, 725 North Wolfe St., PCTB 804, Baltimore, MD 21205, United States.

Reduced thymic output, cell cycle abnormalities, and increased apoptosis of T lymphocytes in patients with cartilage-hair hypoplasia.

J Allergy  Clin Immunol2011 May 12. [Epub ahead of print].

de la Fuente MA, Recher M, Rider NL, Strauss KA, Morton DH, Adair M, Bonilla FA, Ochs HD, Gelfand EW, Pessach IM, Walter JE, King A, Giliani S, Pai SY, Notarangelo LD.

Division of Immunology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Mass.

Long-term outcome and lineage-specific chimerism in  194 Wiskott-Aldrich Syndrome patients treated by hematopoietic cell transplantation between 1980-2009: an international collaborative study.

Blood2011 Jun 9. [Epub ahead of print].

Moratto D, Giliani S, Bonfim C, Mazzolari E, Fischer A, Ochs HD, Cant AJ, Thrasher AJ, Cowan MJ, Albert MH, Small T, Pai SY, Haddad E, Lisa A, Hambleton S, Slatter M, Cavazzana-Calvo M, Mahlaoui N, Picard C, Torgerson TR, Burroughs L, Koliski A, Zanis Neto J, Porta F, Qasim W, Veys P, Kavanau K, Hönig M, Schulz A,  Friedrich W, Notarangelo LD.

"A. Nocivelli" Institute for Molecular Medicine, Pediatric Clinic, University of Brescia, and Laboratory of Genetic Disorders of Childhood, Spedali Civili, Brescia, Italy.

What disorders of cortical development tell us about the cortex: one plus one does not always make two.

Curr Opin Genet Dev. 2011 Jun;21(3):333-9.

Manzini MC, Walsh CA.

Division of Genetics, Manton Center for Orphan Disease Research and Howard Hughes Medical Institute, Boston Children's Hospital, Boston, MA 02115, United States.

Isolation and transcriptome analysis of adult zebrafish cells enriched for skeletal muscle progenitors. Muscle Nerve.

2011 May;43(5):741-50. doi: 10.1002/mus.21972. Epub 2011 Feb 17.

Alexander MS, Kawahara G, Kho AT, Howell MH, Pusack TJ, Myers JA, Montanaro F, Zon LI, Guyon JR, Kunkel LM.

Howard Hughes Medical Institute, Center for Life Science, Room CLS15027.1, Boston Children's Hospital, 3 Blackfan Circle, Boston, Massachusetts 02115, USA.

Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE.

BMC Med Genet. 2011 Jun 28;12(1):87. [Epub ahead of print].

Boyden SE, Duncan AR, Estrella EA, Lidov HG, Mahoney LJ, Katz JS, Kunkel LM, Kang PB.

Program in Genomics, Division of Genetics, Boston Children's Hospital, 300 Longwood Avenue, Boston, MA 02115, USA.

A clinician's guide to X-linked hypophosphatemia.

J Bone Miner Res. 2011 Jul;26(7):1381-8. doi: 10.1002/jbmr.340. Epub 2011 May 2.

Carpenter TO, Imel EA, Holm IA, Jan de Beur SM, Insogna KL.

Departments of Pediatrics (Endocrinology) and Orthopaedics and Rehabilitation, Yale University School of Medicine, New Haven, CT, USA.

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