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January 2010 - April 2010


Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.

Am J Hum Genet. 2010 Feb 12;86(2):222-8. Epub 2010 Jan 28.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.

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


The mouse retina as an angiogenesis model.

Invest Ophthalmol Vis Sci. 2010 Jun;51(6):2813-26.

Stahl A, Connor KM, Sapieha P, Chen J, Dennison RJ, Krah NM, Seaward MR, Willett KL, Aderman CM, Guerin KI, Hua J, Löfqvist C, Hellström A, Smith LE. 

Department of Ophthalmology, Harvard Medical School, Boston Children's Hospital, Boston, Massachusetts 02115, USA.


PPARγ mediates a direct anti-angiogenic effect of ω3-PUFAs in proliferative retinopathy.

Circulation Research. 2010. Aug 20;107(4):495-500.

Stahl A, Sapieha P, Connor KM, SanGiovanni JP, Chen J, Aderman CM, Willett KL, Krah NM, Dennison RJ, Seaward MR, Guerin KI, Hua J, Smith LE.

Department of Ophthalmology, Harvard Medical School, Children's Hospital, Boston, Mass. 02115, USA.


Clinical genetic testing for patients with autism spectrum disorders.

Pediatr. 125: 727-735, 2010.  2010 Apr; Epub 2010 Mar 15.

Shen Y, Dies KA, Holm IA, Bridgemohan C, Sobeih MM, Caronna EB, Miller KJ, Frazier JA, Silverstein I, Picker J, Weissman L, Raffalli P, Jeste S, Demmer LA, Peters HK, Brewster SJ, Kowalczyk SJ, Rosen-Sheidley B, McGowan C, Duda AW 3rd, Lincoln SA, Lowe KR, Schonwald A, Robbins M, Hisama F, Wolff R, Becker R, Nasir R, Urion DK, Milunsky JM, Rappaport L, Gusella JF, Walsh CA, Wu BL, Miller DT; Autism Consortium Clinical Genetics/DNA Diagnostics Collaboration.

Autism Consortium, Boston, Massachusetts, USA.


Different molecular behavior of CD40 mutants causing hyper-IgM syndrome.

Blood2010;116:5867-74.

Lanzi G, Ferrari S, Vihinen M, Caraffi S, Kutukculer N, Schiaffonati L, Plebani A, Notarangelo LD, Fra AM, Giliani S.

A. Nocivelli Institute for Molecular Medicine and Pediatric Clinic, University of Brescia, Brescia, Italy.


Expansion of immunoglobulin-secreting cells and defects in B cell tolerance in Rag-dependent immunodeficiency.

J Exp Med 2010;207:1541-54.

Walter JE, Rucci F, Patrizi L, Recher M, Regenass S, Paganini T, Keszei M, Pessach I, Lang PA, Poliani PL, Giliani S, Al-Herz W, Cowan MJ, Puck JM, Bleesing J, Niehues T, Schuetz C, Malech H, DeRavin SS, Facchetti F, Gennery AR, Andersson E, Kamani NR, Sekiguchi J, Alenezi HM, Chinen J, Dbaibo G, ElGhazali G, Fontana A, Pasic S, Detre C, Terhorst C, Alt FW, Notarangelo LD.

Division of Immunology and The Manton Center for Orphan Disease Research, Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.


An aqueous Hpermeation pathway in the voltage-gated proton channel, Hv1.

Nature Structural and Molecular Biology, 17, 869-875.

Ramsey, IS, Mokrab, Y, Carvacho, I, Sands, ZA, Sansom, MSP, Clapham, DE. 

Howard Hughes Medical Institute, Department of Cardiology and Manton Center for Orphan Disease, Boston Children's Hospital, Boston, Massachusetts, USA. isramsey@vcu.edu.


Clinical and immunological outcome of patients with cartilage hair hypoplasia after hematopoietic stem cell transplantation.

Blood. 2010 Apr 7. [Epub ahead of print]

Bordon V, Gennery AR, Slatter MA, Vandecruys E, Laureys G, Veys P, Qasim W, Friedrich W, Wulffraat NM, Scherer F, Cant AJ, Fischer A, Cavazzana-Calvo M, Bredius RG, Notarangelo LD, Mazzolari E, Neven B, Güngör T.
Pediatric Hematology, Oncology and Stem Cell Transplantation, Kliniek voor Kinderziekten C. Hooft, Ghent University Hospital, Ghent, Belgium.


TRP channel regulates EGFR signaling in hair morphogenesis and skin barrier formation.
Cell. 2010 Apr 16;141(2):331-43.

Cheng X, Jin J, Hu L, Shen D, Dong XP, Samie MA, Knoff J, Eisinger B, Liu ML, Huang SM, Caterina MJ, Dempsey P, Michael LE, Dlugosz AA, Andrews NC, Clapham DE, Xu H.
The Department of Molecular, Cellular, and Developmental Biology, the University of Michigan, 3089 Natural Science Building (Kraus), 830 North University, Ann Arbor, MI 48109, USA.


The apical complex couples cell fate and cell survival to cerebral cortical development.
Neuron. 2010 Apr 15;66(1):69-84.

Kim S, Lehtinen MK, Sessa A, Zappaterra MW, Cho SH, Gonzalez D, Boggan B, Austin CA, Wijnholds J, Gambello MJ, Malicki J, LaMantia AS, Broccoli V, Walsh CA.
Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Division of Genetics, Boston Children's Hospital, Harvard Medical School, Boston, MA 02115, USA.


Developmental and degenerative features in a complicated spastic paraplegia.
Ann Neurol. 2010 Apr;67(4):516-25.

Manzini MC, Rajab A, Maynard TM, Mochida GH, Tan WH, Nasir R, Hill RS, Gleason D, Al Saffar M, Partlow JN, Barry BJ, Vernon M, LaMantia AS, Walsh CA.
Department of Neurology, Howard Hughes Medical Institute, Beth Israel Deaconess Medical Center, Harvard Medical School, Boston, MA 02115, USA.


Distinct alpha- and beta-tubulin isotypes are required for the positioning, differentiation and survival of neurons: new support for the 'multi-tubulin' hypothesis.
Biosci Rep. 2010 Apr 15;30(5):319-30.

Tischfield MA, Engle EC.
Department of Neurology and Ophthalmology, Manton Center for Orphan Disease Research, Boston Children's Hospital, Harvard Medical School, MA, USA.


AID for Reprogramming.
Cell Res. 2010 Mar;20(3):253-5.

Agarwal S, Daley GQ
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Telomere elongation in induced pluripotent stem cells from dyskeratosis congenita patients.
Nature. 2010 Mar 11;464(7286):292-6. Epub 2010 Feb 17.

Agarwal S, Loh YH, McLoughlin EM, Huang J, Park IH, Miller JD, Huo H, Okuka M, Dos Reis RM, Loewer S, Ng HH, Keefe DL, Goldman FD, Klingelhutz AJ, Liu L, Daley GQ
Division of Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Human genetic disorders of axon guidance.
Cold Spring Harbor Perspect. Biol.. 2010 Mar;2(3):a001784.

Engle EC
Department of Neurology, FM Kirby Neurobiology Center, Program in Genomics, Boston Children's Hospital, Massachusetts 02115-5737, USA.


Human peripheral lymphoid tissues contain autoimmune regulator-expressing dendritic cells.
Am J Pathol. 2010 Mar;176(3):1104-12. Epub 2010 Jan 21

Poliani PL, Kisand K, Marrella V, Ravanini M, Notarangelo LD, Villa A, Peterson P, Facchetti F
Department of Pathology, University of Brescia, P.le Spedali Civili 1, 25123, Brescia, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Mutations in PKNP cause microcephaly, seizures, and defects in DNA repair.
Nat Genet. 2010 Mar;42(3):245-9.Epub 2010 Jan 31.

Shen J, Gilmore EC, Marshall CA, Haddadin M, Reynolds JJ, Eyaid W, Bodell A, Barry B, Gleason D, Allen K, Ganesh VS, Chang BS, Grix A, Hill RS, Topcu M, Caldecott KW, Barkovich AJ, Walsh CA.
Howard Hughes Medical Institute, Department of Neurology, Beth Israel Deaconess Medical Center and Program in Neuroscience, Harvard Medical School, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Ribosomal protein genes RPS10 and RPS26 are commonly mutated in Diamond-Blackfan anemia.
Am J Hum Genet. 2010 Feb 12;86(2):222-228. Epub 2010 Jan 28.

Doherty L, Sheen MR, Vlachos A, Choesmel V, O'Donohue MF, Clinton C, Schneider HE, Sieff CA, Newburger PE, Ball SE, Niewiadomska E, Matysiak M, Glader B, Arceci RJ, Farrar JE, Atsidaftos E, Lipton JM, Gleizes PE, Gazda HT.
Division of Genetics and Program in Genomics,, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Primary Immunodeficiencies.
J Allergy Clin Immunol. 2010 Feb;125(2 Suppl 2):S182-94. Epub 2009 Dec 29.

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


HOXA1 mutations are not a common cause of Möbius syndrome.
J AAPOS. 2010 Feb;14(1):78-80.

Rankin JK, Andrews C, Chan WM, Engle EC.
Department of Neurology, Boston Children's Hospital, Boston, Massachusetts, USA.


Homozygous DNA ligase IV R278H mutation in mice leads to leaky SCID and represents a model for human LIG4 syndrome.
Proc Natl Acad SCI USA. 2010 Feb 16;107(7):3024-9. Epub 2010 Feb 1

Rucci F, Notarangelo LD, Fazeli A, Patrizi L, Hickernell T, Paganini T, Coakley KM, Detre C, Keszei M, Walter JE, Feldman L, Cheng HL, Poliani PL, Wang JH, Balter BB, Recher M, Andersson EM, Zha S, Giliani S, Terhorst C, Alt FW, Yan CT.
Division of Immunology and Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Defect in regulatory T cells in patients with Omenn syndrome.
J Allergy Clin Immunol. 2010 Jan; 125(1)209-16.

Cassani B, Poliani PL, Moratto D, Sobacchi C, Marrella V, Imperatori L, Vairo D, Plebani A, Giliani S, Vezzoni P, Facchetti F, Porta F, Notarangelo LD, Villa A, Badolato R
Fondazione Humanitas per la Ricerca, Rozzano (MI), Italy, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Stem cells: roadmap to the clinic.
J Clin Invest. 2010 Jan; 120(1):8-10. doi: 10.1172/JCI41801

Daley GQ
Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, Howard Hughes Medical Institute, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Autologous blood cell therapies from pluripotent stem cells.
Blood Rev. 2010 Jan;24(1):27-37.Epub 2009 Nov 11.

Lengerke C, Daley GQ
Division of Hematology and Oncology, University of Tuebingen Medical Center II, 72076 Tuebingen, Germany, Howard Hughes Medical Institute, Stem Cell Transplantation Program, Division of Pediatric Hematology/Oncology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


CHN1 mutations are not a common cause of sporadic Duane's retraction syndrome.
Am J Med Genet. 2010 Jan;152A(1):215-7.

Miyake N, Andrews C, Fan W, He W, Chan WM, Engle EC.
Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


Human TUBB3 mutations perturb microtubule dynamics, kinesin interactions, and axon guidance.
Cell. 2010 Jan 8;140(1):74-87.

Tischfield MA, Baris HN, Wu C, Rudolph G, Van Maldergem L, He W, Chan WM, Andrews C, Demer JL, Robertson RL, Mackey DA, Ruddle JB, Bird TD, Gottlob I, Pieh C, Traboulsi EI, Pomeroy SL, Hunter DG, Soul JS, Newlin A, Sabol LJ, Doherty EJ, de Uzcátegui CE, de Uzcátegui N, Collins ML, Sener EC, Wabbels B, Hellebrand H, Meitinger T, de Berardinis T, Magli A, Schiavi C, Pastore-Trossello M, Koc F, Wong AM, Levin AV, Geraghty MT, Descartes M, Flaherty M, Jamieson RV, Møller HU, Meuthen I, Callen DF, Kerwin J, Lindsay S, Meindl A, Gupta ML Jr, Pellman D, Engle EC.
Department of Neurology, The Manton Center for Orphan Disease Research, Boston Children's Hospital, Boston, MA 02115, USA.


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