Please enable Javascript

Labmeeting uses lots of Javascript - basically you can't use the site without it. So please enable Javascript in your browser. If your browser does not support Javascript, we recommend Firefox.

Papers authored by Gelb BD

Collect these papers and discover other ones on Labmeeting. Learn more.

The phosphatase SHP2 regulates the spacing effect for long-term memory induction.

+ cite this

+ View Abstract

Pagani MR, Oishi K, Gelb BD, and Zhong Y

Cell 139(1):186-98, 2009 Oct 2 - Who cited this? | PubMed ID: 19804763 | Fulltext

Mutation of SHOC2 promotes aberrant protein N-myristoylation and causes Noonan-like syndrome with loose anagen hair.

+ cite this

+ View Abstract

Cordeddu V, Di Schiavi E, Pennacchio LA, Ma'ayan A, Sarkozy A, Fodale V, Cecchetti S, Cardinale A, Martin J, Schackwitz W, Lipzen A, Zampino G, Mazzanti L, Digilio MC, Martinelli S, Flex E,

(show remaining authors)

Nature genetics 41(9):1022-6, 2009 Sep - Who cited this? | PubMed ID: 19684605 | Fulltext

Germline BRAF mutations in Noonan, LEOPARD, and cardiofaciocutaneous syndromes: Molecular diversity and associated phenotypic spectrum.

+ cite this

+ View Abstract

Sarkozy A, Carta C, Moretti S, Zampino G, Digilio MC, Pantaleoni F, Scioletti AP, Esposito G, Cordeddu V, Lepri F, Petrangeli V, Dentici ML, Mancini GM, Selicorni A, Rossi C, Mazzanti L,

(show remaining authors)

Human mutation 30(4):695-702, 2009 Apr - Who cited this? | PubMed ID: 19206169 | Fulltext

Ablation of cathepsin k activity in the young mouse causes hypermineralization of long bone and growth plates.

+ cite this

+ View Abstract

Boskey AL, Gelb BD, Pourmand E, Kudrashov V, Doty SB, Spevak L, and Schaffler MB

Calcified tissue international 84(3):229-39, 2009 Mar - Who cited this? | PubMed ID: 19172215 | Fulltext

PTPN11 analysis for the prenatal diagnosis of Noonan syndrome in fetuses with abnormal ultrasound findings.

+ cite this

+ View Abstract

Lee KA, Williams B, Roza K, Ferguson H, David K, Eddleman K, Stone J, Edelmann L, Richard G, Gelb BD, and Kornreich R

Clinical genetics 75(2):190-4, 2009 Feb - Who cited this? | PubMed ID: 18759865 | Fulltext

Phosphatase-defective LEOPARD syndrome mutations in PTPN11 have gain-of-function effects during Drosophila development.

+ cite this

+ View Abstract

Oishi K, Zhang H, Gault WJ, Wang CJ, Tan CC, Kim IK, Ying H, Rahman T, Pica N, Tartaglia M, Mlodzik M, and Gelb BD

Human molecular genetics, 2008 Oct 11 - Who cited this? | PubMed ID: 18849586 | Fulltext

Deficiency and Inhibition of Cathepsin K Reduce Body Weight Gain and Increase Glucose Metabolism in Mice.

+ cite this

+ View Abstract

Yang M, Sun J, Zhang T, Liu J, Zhang J, Shi MA, Darakhshan F, Guerre-Millo M, Clement K, Gelb BD, Dolgnov G, and Shi GP

Arteriosclerosis, thrombosis, and vascular biology, 2008 Sep 25 - Who cited this? | PubMed ID: 18818416 | Fulltext

Diverse driving forces underlie the invariant occurrence of the T42A, E139D, I282V and T468M SHP2 amino acid substitutions causing Noonan and LEOPARD syndromes.

+ cite this

+ View Abstract

Martinelli S, Torreri P, Tinti M, Stella L, Bocchinfuso G, Flex E, Grottesi A, Ceccarini M, Palleschi A, Cesareni G, Castagnoli L, Petrucci TC, Gelb BD, and Tartaglia M

Human molecular genetics 17(13):2018-29, 2008 Jul 1 - Who cited this? | PubMed ID: 18372317 | Fulltext

Transcription factor Ap2delta associates with Ash2l and ALR, a trithorax family histone methyltransferase, to activate Hoxc8 transcription.

+ cite this

+ View Abstract

Tan CC, Sindhu KV, Li S, Nishio H, Stoller JZ, Oishi K, Puttreddy S, Lee TJ, Epstein JA, Walsh MJ, and Gelb BD

Proceedings of the National Academy of Sciences of the United States of America 105(21):7472, 2008 May 27 - Who cited this? | PubMed ID: 18495928 | Fulltext

Somatically acquired JAK1 mutations in adult acute lymphoblastic leukemia.

+ cite this

+ View Abstract

Flex E, Petrangeli V, Stella L, Chiaretti S, Hornakova T, Knoops L, Ariola C, Fodale V, Clappier E, Paoloni F, Martinelli S, Fragale A, Sanchez M, Tavolaro S, Messina M, Cazzaniga G,

(show remaining authors)

The Journal of experimental medicine 205(4):751, 2008 Apr 14 - Who cited this? | PubMed ID: 18362173 | Fulltext

Multiple thoracic aortic aneurysms after mediastinitis in an infant after repair of coarctation of the aorta.

+ cite this

Profitlich LE, Weismann CG, Srivastava S, Gelb BD, Nguyen K, and Joashi U

The Journal of thoracic and cardiovascular surgery 135(2):444-5, 445.e1, 2008 Feb - Who cited this? | PubMed ID: 18242288 | Fulltext

Gain-of-function RAF1 mutations cause Noonan and LEOPARD syndromes with hypertrophic cardiomyopathy.

+ cite this

+ View Abstract

Pandit B, Sarkozy A, Pennacchio LA, Carta C, Oishi K, Martinelli S, Pogna EA, Schackwitz W, Ustaszewska A, Landstrom A, Bos JM, Ommen SR, Esposito G, Lepri F, Faul C, Mundel P,

(show remaining authors)

Nature genetics 39(8):1007, 2007 Aug - Who cited this? | PubMed ID: 17603483 | Fulltext

Genetic basis for congenital heart defects: current knowledge: a scientific statement from the American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young: endorsed by the American Academy of Pediatrics.

+ cite this

+ View Abstract

Pierpont ME, Basson CT, Benson DW, Gelb BD, Giglia TM, Goldmuntz E, McGee G, Sable CA, Srivastava D, Webb CL, and American Heart Association Congenital Cardiac Defects Committee, Council on Cardiovascular Disease in the Young

Circulation 115(23):3015-38, 2007 Jun 12 - Who cited this? | PubMed ID: 17519398 | Fulltext

Novel functional interaction between Na+/H+ exchanger 1 and tyrosine phosphatase SHP-2.

+ cite this

+ View Abstract

Xue J, Zhou D, Yao H, Gavrialov O, McConnell MJ, Gelb BD, and Haddad GG

American journal of physiology. Regulatory, integrative and comparative physiology 292(6):R2406-16, 2007 Jun - Who cited this? | PubMed ID: 17289818 | Fulltext

The genetics of congenital heart disease: a review of recent developments.

+ cite this

+ View Abstract

Weismann CG and Gelb BD

Current opinion in cardiology 22(3):200-6, 2007 May - Who cited this? | PubMed ID: 17413276 | Fulltext

Diversity, parental germline origin, and phenotypic spectrum of de novo HRAS missense changes in Costello syndrome.

+ cite this

+ View Abstract

Zampino G, Pantaleoni F, Carta C, Cobellis G, Vasta I, Neri C, Pogna EA, De Feo E, Delogu A, Sarkozy A, Atzeri F, Selicorni A, Rauen KA, Cytrynbaum CS, Weksberg R, Dallapiccola B,

(show remaining authors)

Human mutation 28(3):265-72, 2007 Mar - Who cited this? | PubMed ID: 17054105 | Fulltext

Gain-of-function SOS1 mutations cause a distinctive form of Noonan syndrome.

+ cite this

+ View Abstract

Tartaglia M, Pennacchio LA, Zhao C, Yadav KK, Fodale V, Sarkozy A, Pandit B, Oishi K, Martinelli S, Schackwitz W, Ustaszewska A, Martin J, Bristow J, Carta C, Lepri F, Neri C,

(show remaining authors)

Nature genetics 39(1):75, 2007 Jan - Who cited this? | PubMed ID: 17143282 | Fulltext

Noonan syndrome and related disorders: dysregulated RAS-mitogen activated protein kinase signal transduction.

+ cite this

+ View Abstract

Gelb BD and Tartaglia M

Human molecular genetics 15 Spec No 2:R220-6, 2006 Oct 15 - Who cited this? | PubMed ID: 16987887 | Fulltext

Evaluation of pulmonary artery banding in the setting of ventricular septal defects and severely elevated pulmonary vascular resistance.

+ cite this

+ View Abstract

Khan SA, Gelb BD, and Nguyen KH

Congenital heart disease 1(5):244-50, 2006 Sep - Who cited this? | PubMed ID: 18377533 | Fulltext

Marfan's syndrome and related disorders--more tightly connected than we thought.

+ cite this

Gelb BD

The New England journal of medicine 355(8):841-4, 2006 Aug 24 - Who cited this? | PubMed ID: 16929000 | Fulltext

Germline missense mutations affecting KRAS Isoform B are associated with a severe Noonan syndrome phenotype.

+ cite this

+ View Abstract

Carta C, Pantaleoni F, Bocchinfuso G, Stella L, Vasta I, Sarkozy A, Digilio C, Palleschi A, Pizzuti A, Grammatico P, Zampino G, Dallapiccola B, Gelb BD, and Tartaglia M

American journal of human genetics 79(1):129-35, 2006 Jul - Who cited this? | PubMed ID: 16773572 | Fulltext

Thiamine pyrophosphate: an essential cofactor for the alpha-oxidation in mammals--implications for thiamine deficiencies?.

+ cite this

+ View Abstract

Sniekers M, Foulon V, Mannaerts GP, Van Maldergem L, Mandel H, Gelb BD, Casteels M, and Van Veldhoven PP

Cellular and molecular life sciences : CMLS 63(13):1553-63, 2006 Jul - Who cited this? | PubMed ID: 16786225 | Fulltext

Mice lacking cathepsin K maintain bone remodeling but develop bone fragility despite high bone mass.

+ cite this

+ View Abstract

Li CY, Jepsen KJ, Majeska RJ, Zhang J, Ni R, Gelb BD, and Schaffler MB

Journal of bone and mineral research : the official journal of the American Society for Bone and Mineral Research 21(6):865, 2006 Jun - Who cited this? | PubMed ID: 16753017 | Fulltext

Transgenic Drosophila models of Noonan syndrome causing PTPN11 gain-of-function mutations.

+ cite this

+ View Abstract

Oishi K, Gaengel K, Krishnamoorthy S, Kamiya K, Kim IK, Ying H, Weber U, Perkins LA, Tartaglia M, Mlodzik M, Pick L, and Gelb BD

Human molecular genetics 15(4):543-53, 2006 Feb 15 - Who cited this? | PubMed ID: 16399795 | Fulltext

Diversity and functional consequences of germline and somatic PTPN11 mutations in human disease.

+ cite this

+ View Abstract

Tartaglia M, Martinelli S, Stella L, Bocchinfuso G, Flex E, Cordeddu V, Zampino G, Burgt I, Palleschi A, Petrucci TC, Sorcini M, Schoch C, Foa R, Emanuel PD, and Gelb BD

American journal of human genetics 78(2):279-90, 2006 Feb - Who cited this? | PubMed ID: 16358218 | Fulltext

Neonatal Marfan syndrome : in utero presentation with aortic and pulmonary artery dilatation and successful repair of an acute flail mitral valve leaflet in infancy.

+ cite this

+ View Abstract

Ramaswamy P, Lytrivi ID, Nguyen K, and Gelb BD

Pediatric cardiology 27(6):763-5, 2006 - Who cited this? | PubMed ID: 17091324 | Fulltext

Parents and clinicians underestimate distress and depression in children who had a transplant.

+ cite this

+ View Abstract

Shemesh E, Annunziato RA, Shneider BL, Newcorn JH, Warshaw JK, Dugan CA, Gelb BD, Kerkar N, Yehuda R, and Emre S

Pediatric transplantation 9(5):673-9, 2005 Oct - Who cited this? | PubMed ID: 16176429 | Fulltext

The mutational spectrum of PTPN11 in juvenile myelomonocytic leukemia and Noonan syndrome/myeloproliferative disease.

+ cite this

+ View Abstract

Kratz CP, Niemeyer CM, Castleberry RP, Cetin M, Bergsträsser E, Emanuel PD, Hasle H, Kardos G, Klein C, Kojima S, Stary J, Trebo M, Zecca M, Gelb BD, Tartaglia M, and Loh ML

Blood 106(6):2183-5, 2005 Sep 15 - Who cited this? | PubMed ID: 15928039 | Fulltext

Neurofibromatosis-Noonan syndrome: molecular evidence of the concurrence of both disorders in a patient.

+ cite this

+ View Abstract

Bertola DR, Pereira AC, Passetti F, de Oliveira PS, Messiaen L, Gelb BD, Kim CA, and Krieger JE

American journal of medical genetics. Part A 136(3):242-5, 2005 Jul 30 - Who cited this? | PubMed ID: 15948193 | Fulltext

PTPN11 mutations play a minor role in isolated congenital heart disease.

+ cite this

+ View Abstract

Weismann CG, Hager A, Kaemmerer H, Maslen CL, Morris CD, Schranz D, Kreuder J, and Gelb BD

American journal of medical genetics. Part A 136(2):146-51, 2005 Jul 15 - Who cited this? | PubMed ID: 15940693 | Fulltext

Comparison of parent and child reports of emotional trauma symptoms in pediatric outpatient settings.

+ cite this

+ View Abstract

Shemesh E, Newcorn JH, Rockmore L, Shneider BL, Emre S, Gelb BD, Rapaport R, Noone SA, Annunziato R, Schmeidler J, and Yehuda R

Pediatrics 115(5), 2005 May - Who cited this? | PubMed ID: 15867023 | Fulltext

Phenotypic and genotypic characterisation of Noonan-like/multiple giant cell lesion syndrome.

+ cite this

Lee JS, Tartaglia M, Gelb BD, Fridrich K, Sachs S, Stratakis CA, Muenke M, Robey PG, Collins MT, and Slavotinek A

Journal of medical genetics 42(2):e11, 2005 Feb - Who cited this? | PubMed ID: 15689434 | Fulltext

Germ-line and somatic PTPN11 mutations in human disease.

+ cite this

+ View Abstract

Tartaglia M and Gelb BD

European journal of medical genetics 48(2):81-96, 2005 - Who cited this? | PubMed ID: 16053901 | Fulltext

Noonan syndrome and related disorders: genetics and pathogenesis.

+ cite this

+ View Abstract

Tartaglia M and Gelb BD

Annual review of genomics and human genetics 6:45-68, 2005 - Who cited this? | PubMed ID: 16124853 | Fulltext

Paternal germline origin and sex-ratio distortion in transmission of PTPN11 mutations in Noonan syndrome.

+ cite this

+ View Abstract

Tartaglia M, Cordeddu V, Chang H, Shaw A, Kalidas K, Crosby A, Patton MA, Sorcini M, van der Burgt I, Jeffery S, and Gelb BD

American journal of human genetics 75(3):492-7, 2004 Sep - Who cited this? | PubMed ID: 15248152 | Fulltext

Genetic evidence for lineage-related and differentiation stage-related contribution of somatic PTPN11 mutations to leukemogenesis in childhood acute leukemia.

+ cite this

+ View Abstract

Tartaglia M, Martinelli S, Cazzaniga G, Cordeddu V, Iavarone I, Spinelli M, Palmi C, Carta C, Pession A, Aricò M, Masera G, Basso G, Sorcini M, Gelb BD, and Biondi A

Blood 104(2):307-13, 2004 Jul 15 - Who cited this? | PubMed ID: 14982869 | Fulltext

Decreased bone turnover and deterioration of bone structure in two cases of pycnodysostosis.

+ cite this

+ View Abstract

Fratzl-Zelman N, Valenta A, Roschger P, Nader A, Gelb BD, Fratzl P, and Klaushofer K

The Journal of clinical endocrinology and metabolism 89(4):1538-47, 2004 Apr - Who cited this? | PubMed ID: 15070910 | Fulltext

Noonan syndrome-associated SHP2/PTPN11 mutants cause EGF-dependent prolonged GAB1 binding and sustained ERK2/MAPK1 activation.

+ cite this

+ View Abstract

Fragale A, Tartaglia M, Wu J, and Gelb BD

Human mutation 23(3):267-77, 2004 Mar - Who cited this? | PubMed ID: 14974085 | Fulltext

Genetic basis of congenital heart disease.

+ cite this

+ View Abstract

Gelb BD

Current opinion in cardiology 19(2):110-5, 2004 Mar - Who cited this? | PubMed ID: 15075735 | Fulltext

Male infertility due to germ cell apoptosis in mice lacking the thiamin carrier, Tht1. A new insight into the critical role of thiamin in spermatogenesis.

+ cite this

+ View Abstract

Oishi K, Barchi M, Au AC, Gelb BD, and Diaz GA

Developmental biology 266(2):299-309, 2004 Feb 15 - Who cited this? | PubMed ID: 14738878 | Fulltext

Transcription factor Ap-2alpha is necessary for development of embryonic melanophores, autonomic neurons and pharyngeal skeleton in zebrafish.

+ cite this

+ View Abstract

O'Brien EK, d'Alençon C, Bonde G, Li W, Schoenebeck J, Allende ML, Gelb BD, Yelon D, Eisen JS, and Cornell RA

Developmental biology 265(1):246, 2004 Jan 1 - Who cited this? | PubMed ID: 14697367 | Fulltext

A trial of vitamin A therapy to facilitate ductal closure in premature infants.

+ cite this

+ View Abstract

Ravishankar C, Nafday S, Green RS, Kamenir S, Lorber R, Stacewicz-Sapuntzakis M, Bridges ND, Holzman IR, and Gelb BD

The Journal of pediatrics 143(5):644-8, 2003 Nov - Who cited this? | PubMed ID: 14615738 | Fulltext

Cathepsin K deficiency in pycnodysostosis results in accumulation of non-digested phagocytosed collagen in fibroblasts.

+ cite this

+ View Abstract

Everts V, Hou WS, Rialland X, Tigchelaar W, Saftig P, Brömme D, Gelb BD, and Beertsen W

Calcified tissue international 73(4):380-6, 2003 Oct - Who cited this? | PubMed ID: 12874701 | Fulltext

Somatic mutations in PTPN11 in juvenile myelomonocytic leukemia, myelodysplastic syndromes and acute myeloid leukemia.

+ cite this

+ View Abstract

Tartaglia M, Niemeyer CM, Fragale A, Song X, Buechner J, Jung A, Hählen K, Hasle H, Licht JD, and Gelb BD

Nature genetics 34(2):148-50, 2003 Jun - Who cited this? | PubMed ID: 12717436 | Fulltext

Expression of Tfap2d, the gene encoding the transcription factor Ap-2 delta, during mouse embryogenesis.

+ cite this

+ View Abstract

Zhao F, Lufkin T, and Gelb BD

Gene expression patterns : GEP 3(2):213-7, 2003 May - Who cited this? | PubMed ID: 12711551 | Fulltext

Exclusion of PTPN11 mutations in Costello syndrome: further evidence for distinct genetic etiologies for Noonan, cardio-facio-cutaneous and Costello syndromes.

+ cite this

+ View Abstract

Tartaglia M, Cotter PD, Zampino G, Gelb BD, and Rauen KA

Clinical genetics 63(5):423-6, 2003 May - Who cited this? | PubMed ID: 12752577 | Fulltext

Thiamine pyrophosphate: an essential cofactor in the mammalian metabolism of 3-methyl-branched fatty acids--implications for thiamine deficiencies?.

+ cite this

Foulon V, Casteels M, Mannaerts GP, Gelb BD, and Van Veldhoven PP

Advances in experimental medicine and biology 544:305-6, 2003 - Who cited this? | PubMed ID: 14713245 | Fulltext

Targeted disruption of Slc19a2, the gene encoding the high-affinity thiamin transporter Thtr-1, causes diabetes mellitus, sensorineural deafness and megaloblastosis in mice.

+ cite this

+ View Abstract

Oishi K, Hofmann S, Diaz GA, Brown T, Manwani D, Ng L, Young R, Vlassara H, Ioannou YA, Forrest D, and Gelb BD

Human molecular genetics 11(23):2951-60, 2002 Nov 1 - Who cited this? | PubMed ID: 12393806 | Fulltext

Mutation of TBCE causes hypoparathyroidism-retardation-dysmorphism and autosomal recessive Kenny-Caffey syndrome.

+ cite this

+ View Abstract

Parvari R, Hershkovitz E, Grossman N, Gorodischer R, Loeys B, Zecic A, Mortier G, Gregory S, Sharony R, Kambouris M, Sakati N, Meyer BF, Al Aqeel AI, Al Humaidan AK, Al Zanhrani F, Al Swaid A,

(show remaining authors)

Nature genetics 32(3):448-52, 2002 Nov - Who cited this? | PubMed ID: 12389028 | Fulltext

Absence of PTPN11 mutations in 28 cases of cardiofaciocutaneous (CFC) syndrome.

+ cite this

+ View Abstract

Ion A, Tartaglia M, Song X, Kalidas K, van der Burgt I, Shaw AC, Ming JE, Zampino G, Zackai EH, Dean JC, Somer M, Parenti G, Crosby AH, Patton MA, Gelb BD, and Jeffery S

Human genetics 111(4-5):421-7, 2002 Oct - Who cited this? | PubMed ID: 12384786 | Fulltext

Search Google Scholar for Gelb BD

Join Labmeeting

Organize and search your PDF collection
Collect papers
Search millions of papers
Keep up to date with paper alerts
Read your papers from anywhere
Recommend papers to colleagues
Manage your lab

Labmeeting is a web service for researchers. Sign up with your academic email address.

Individuals or corporations not affiliated with an academic institution can request a trial subscription.

Got a question?
The Labmeeting Network
has the answer.
Ask scientists at top universities like Harvard, Stanford, and MIT for their expert opinion!