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September 2009 - December 2009


Immunodeficiencies.
Clin Exp Immunol. 2009 Dec;158 Suppl 1:14-22.

Ballow M, Notarangelo L, Grimbacher B, Cunningham-Rundles C, Stein M, Helbert M, Gathmann B, Kindle G, Knight AK, Ochs HD, Sullivan K, Franco JL.
Women and Children's Hospital of Buffalo, State University of New York at Buffalo, Buffalo, NY 14222, USA


The Serotonin-Related FEV Gene Variant in the Sudden Infant Death Syndrome is a Common Polymorphism in the African-American Population.
Pediatr Res. 2009 Dec;66(6):631-5.

Broadbelt KG, Barger MA, Paterson DS, Holm IA, Haas EA, Krous HF, Kinney HC, Markianos K, Beggs AH.
Department of Pathology [K.G.B., D.S.P., H.C.K.], Program in Genomics [M.A.B., I.A.H., K.M., A.H.B.], and The Manton Center for Orphan Disease Research [I.A.H., A.H.B.], Boston Children's Hospital and Harvard Medical School, Boston, MA, 02115; Rady Children's Hospital and Health Center [E.A.H., H.F.K.], University of California, San Diego School of Medicine, San Diego, CA, 92123.


Improving cellular therapy for primary immune deficiency diseases: recognition, diagnosis, and management.
J Allergy Clin Immunol. 2009 Dec;124(6):1152-60.e12.

Griffith LM, Cowan MJ, Notarangelo LD, Puck JM, Buckley RH, Candotti F, Conley ME, Fleisher TA, Gaspar HB, Kohn DB, Ochs HD, O'Reilly RJ, Rizzo JD, Roifman CM, Small TN, Shearer WT; Workshop Participants.
Division of Allergy, Immunology and Transplantation, National Institute of Allergy and Infectious Diseases, National Institutes of Health, Bethesda, MD, USA, Division of Immunology, Boston Children's Hospital, Boston, MA, USA.


Mutations of tropomyosin 3 (TPM3) are common and associated with type 1 myofiber hypotrophy in congenital fiber type disproportion.
Human Mutation. 2009 Dec 1

Lawlor MW, DeChene ET, Roumm E, Geggel AS, Moghadaszadeh B, Beggs AH.
Division of Genetics and Program in Genomics, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, Boston, MA.


A Truncating Mutation of TRAPPC9 Is Associated with Autosomal-Recessive Intellectual Disability and Postnatal Microcephaly.
Am J Hum Genet. 2009 Dec;85(6):897-902.

Mochida GH, Mahajnah M, Hill AD, Basel-Vanagaite L, Gleason D, Hill RS, Bodell A, Crosier M, Straussberg R, Walsh CA.
Department of Neurology, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.


T-tubule disorganization and defective excitation-contraction coupling in muscle fibers lacking myotubularin lipid phosphatase.
Proc Natl Acad Sci U S A. 2009 Nov 3;106(44):18763-8. Epub 2009 Oct 21.

Al-Qusairi L, Weiss N, Toussaint A, Berbey C, Messaddeq N, Kretz C, Sanoudou D, Beggs AH, Allard B, Mandel JL, Laporte J, Jacquemond V, Buj-Bello A.
Department of Neurobiology and Genetics, and Imaging Center-Electron Microscopy, Institut de Génétique et de Biologie Moléculaire et Cellulaire, Institut National de la Santé et de la Recherche Médicale U964, Centre National de la Recherche Scientifique, Unite Mixte de Recherche 7104, Université Louis Pasteur, Collège de France, 67404 Illkirch, France.


Live cell imaging distinguishes bona fide human iPS cells from partially reprogrammed cells.
Nat Biotechnol. 2009 Nov;27(11):1033-7. Epub 2009 Oct 11.

Chan EM, Ratanasirintrawoot S, Park IH, Manos PD, Loh YH, Huo H, Miller JD, Hartung O, Rho J, Ince TA, Daley GQ, Schlaeger TM.
Division of Pediatric Hematology/Oncology, Boston Children's Hospital and Dana-Farber Cancer Institute, Boston, Massachusetts, USA


Synergistic divergence: a distinct ocular motility dysinnervation pattern.
Invest Ophthalmol Vis Sci. 2009 Nov;50(11):5213-6. Epub 2009 Jul 2

Oystreck DT, Khan AO, Vila-Coro AA, Oworu O, Al-Tassan N, Chan WM, Engle EC, Bosley TM.
Genetics Division, King Faisal Specialist Hospital and Research Centre, Riyadh, Saudi Arabia; Depts. Neurology and Ophthalmology and the Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts


Automated DNA mutation detection using universal conditions direct sequencing: application to ten muscular dystrophy genes.
BMC Genet. 2009 Oct 18;10:66.

Bennett RR, Schneider HE, Estrella E, Burgess S, Cheng AS, Barrett C, Lip V, Lai PS, Shen Y, Wu BL, Darras BT, Beggs AH, Kunkel LM.
Program in Genomics and Division of Genetics, and The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, Massachusetts, USA.


ITGB2 mutation combined with deleted ring 21 chromosome in a child with leukocyte adhesion deficiency.
J Allergy Clin Immunol. 2009 Oct 26. [Epub ahead of print]

Fiorini M, Piovani G, Schumacher RF, Magri C, Bertini V, Mazzolari E, Notarangelo L, Notarangelo LD, Barlati S.
"Angelo Nocivelli" Institute for Molecular Medicine, University of Brescia, Italy; Division of Immunology and Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA


How I treat ADA deficiency.
Blood. 2009 Oct 22;114(17):3524-32. Epub 2009 Jul 28.

Gaspar HB, Aiuti A, Porta F, Candotti F, Hershfield MS, Notarangelo LD
Centre for Immunodeficiency, Molecular Immunology Unit, University College London Institute of Child Health, London, United Kingdom


Genome-wide RNAi screen identifies Letm1 as a mitochondrial Ca2+/H+ antiporter.
Science. 2009 Oct 2;326(5949):144-7.

Jiang D, Zhao L, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Boston Children's Hospital, Manton Center for Orphan Disease, and Department of Neurobiology, Harvard Medical School, Enders Building 1309, 320 Longwood Avenue, Boston, MA 02115, USA.


Primary immunodeficiencies: increasing market share.
Curr Opin Immunol. 2009 Oct;21(5):461-5. Epub 2009 Sep 30.

Notarangelo LD, Casanova JL.
Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard University, Boston, MA, USA; Laboratory of Human Genetics of Infectious Diseases, Rockefeller Branch, Rockefeller University Hospital, The Rockefeller University, New York, NY 10065, USA; Laboratory of Human Genetics of Infectious Diseases, Necker Branch, Paris Descartes University and Inserm, U550, Necker Medical School and Hospital, Paris F 75015, EU, France


Application of induced pluripotent stem cells to hematologic disease.
Cytotherapy. 2009;11(8):980-9.

Kim PG, Daley GQ.
Division of Pediatric Hematology Oncology, Children's Hospital, Boston, Massachusetts 02115, USA.


Primary immunodeficiencies (PIDs) presenting as cytopenias.
Hematology Am Soc Hematol Educ Program. 2009:139-43.

Notarangelo LD.
Manton Center for Orphan Disease Research and Division of Immunology, Boston Children's Hospital, Boston, MA 02115, USA.


2nd Conference of the Robert A. Good immunology society primary immune deficiencies and immune reconstitution Harvard Medical Boston, November 16th, 17th.
Immunol Res. 2009;44:1–3 DOI 10.1007/s12026-009-8110-0.

Notarangelo L, Day N, Fleisher T.
Department of Pediatrics and Pathology, Havard Med. School, The Manton Center for Orphan Disease Res., and Div. of Immunology, Children's Hosp. Boston, Boston, MA, 02115, USA.


Disease models from pluripotent stem cells.
Ann N Y Acad Sci. 2009 Sept:1176:191-6.

Lengerke C, Daley GQ.
Division of Hematology and Oncology, University of Tuebingen Medical Center II, Tuebingen, Germany.


The syndrome of perisylvian polymicrogyria with congenital arthrogryposis.
Brain Dev. 2009 Sept 12 [Epub ahead of print].

Poduri A, Chitsazzadeh V, D'Arrigo S, Fedrizzi E, Pantaleoni C, Riva D, Busse C, Küster H, Duplessis A, Gaitanis J, Sahin M, Garganta C, Topcu M, Dies KA, Barry BJ, Partlow J, Barkovich AJ, Walsh CA, Chang BS.
Division of Epilepsy and Clinical Neurophysiology, Department of Neurology, Boston Children's Hospital and Harvard Medical School, Boston, MA, United States.


Mammalian MagT1 and TUSC3 are required for cellular magnesium uptake and vertebrate embryonic development.
Proc Natl Acad Sci USA. 2009 Sept 15; 106(37):15750-5. Epub 2009 Aug 26.

Zhou H, Clapham DE.
Department of Cardiology, Howard Hughes Medical Institute, Manton Center for Orphan Disease, Boston Children's Hospital, and Harvard Medical School, 1309 Enders, 320 Longwood Avenue, Boston, MA 02115, USA.


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