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La calmoduline au cours de la spermatogenèse et de la maturation épidymaire = Calmodulin in spermatogenesis and epididyme maturationMORRE FEINBERG, Jacqueline.1986, 65 f.-[61] f. de plThesis

Accounting for genetic heterogeneity in homozygosity mapping: application to Mendelian susceptibility to mycobacterial diseaseGRANT, Audrey V; BOISSON-DUPUIS, Stephanie; CAMCIOGLU, Yildiz et al.Journal of medical genetics. 2011, Vol 48, Num 8, pp 567-571, issn 0022-2593, 5 p.Article

BCG-osis and tuberculosis in a child with chronic granulomatous diseaseBUSTAMANTE, Jacinta; AKSU, Guzide; CASANOVA, Jean-Laurent et al.Journal of allergy and clinical immunology. 2007, Vol 120, Num 1, pp 32-38, issn 0091-6749, 7 p.Article

Complete deficiency of the IL-12 receptor β1 chain : three unrelated Turkish children with unusual clinical featuresTANIR, Gonul; DOGU, Figen; FEINBERG, Jacqueline et al.European journal of pediatrics. 2006, Vol 165, Num 6, pp 415-417, issn 0340-6199, 3 p.Article

Pyogenic bacterial infections in humans with IRAK-4 deficiencyPICARD, Capucine; PUEL, Anne; ELBIM, Carole et al.Science (Washington, D.C.). 2003, Vol 299, Num 5615, pp 2076-2079, issn 0036-8075, 4 p.Article

Paternal Uniparental Isodisomy of Chromosome 6 Causing a Complex Syndrome Including Complete IFN-γ Receptor 1 DeficiencyPRANDO, Carolina; BOISSON-DUPUIS, Stéphanie; QIUPING ZHANG et al.American journal of medical genetics. Part A. 2010, Vol 152, Num 3, pp 622-629, issn 1552-4825, 8 p.Article

Les mutations gain de glycosylation = Gains of glycosylation mutationsVOGT, Guillaume; CHAPGIER, Ariane; CHUZHANOVA, Nadia et al.MS. Médecine sciences. 2006, Vol 22, Num 5, pp 480-482, issn 0767-0974, 3 p.Article

Gains of glycosylation comprise an unexpectedly large group of pathogenic mutationsVOGT, Guillaume; CHAPGIER, Ariane; DE BEAUCOUDREY, Ludovic et al.Nature genetics. 2005, Vol 37, Num 7, pp 692-700, issn 1061-4036, 9 p.Article

New mechanism of X-linked anhidrotic ectodermal dysplasia with immunodeficiency: impairment of ubiquitin binding despite normal folding of NEMO proteinHUBEAU, Marjorie; NGADJEUA, Flora; BOISSON-DUPUIS, Stéphanie et al.Blood. 2011, Vol 118, Num 4, pp 926-935, issn 0006-4971, 10 p.Article

The NEMO mutation creating the most-upstream premature stop codon is hypomorphic because of a reinitiation of translationPUEL, Anne; REICHENBACH, Janine; HORNEFF, Gerd et al.American journal of human genetics. 2006, Vol 78, Num 4, pp 691-701, issn 0002-9297, 11 p.Article

A novel form of complete IL-12/IL-23 receptor β1 deficiency with cell surface-expressed nonfunctional receptorsFIESCHI, Claire; BOSTICARDO, Marita; DE BEAUCOUDREY, Ludovic et al.Blood. 2004, Vol 104, Num 7, pp 2095-2101, issn 0006-4971, 7 p.Article

Inherited interleukin-12 deficiency: IL12B genotype and clinical phenotype of 13 patients from six kindredsPICARD, Capucine; FIESCHI, Claire; LAMMAS, David et al.American journal of human genetics. 2002, Vol 70, Num 2, pp 336-346, issn 0002-9297Article

IRF8 Mutations and Human Dendritic-Cell ImmunodeficiencyHAMBLETON, Sophie; SALEM, Sandra; MENON, Geetha et al.The New England journal of medicine. 2011, Vol 365, Num 2, pp 127-138, issn 0028-4793, 12 p.Article

Partial recessive IFN-γR1 deficiency: genetic, immunological and clinical features of 14 patients from 11 kindredsSOLOGUREN, Ithaisa; BOISSON-DUPUIS, Stéphanie; SANTIAGO, Esther et al.Human molecular genetics (Print). 2011, Vol 20, Num 8, pp 1509-1523, issn 0964-6906, 15 p.Article

Hodgkin lymphoma in 2 children with chronic granulomatous diseaseLUGO REYES, Saul Oswaldo; SUAREZ, Felipe; FISCHER, Alain et al.Journal of allergy and clinical immunology. 2011, Vol 127, Num 2, pp 543-544, issn 0091-6749, 2 p.Article

SUCCESSFUL HEMATOPOIETIC STEM CELL TRANSPLANTATION FROM AN UNRELATED DONOR IN A CHILD WITH INTERFERON GAMMA RECEPTOR DEFICIENCYMOILANEN, Petra; KORPPI, Matti; HOVI, Liisa et al.The Pediatric infectious disease journal. 2009, Vol 28, Num 7, pp 658-660, issn 0891-3668, 3 p.Article

Association of IL12RB1 polymorphisms with pulmonary tuberculosis in adults in MoroccoREMUS, Natascha; JAMILA EL BAGHDADI; FIESCHI, Claire et al.The Journal of infectious diseases. 2004, Vol 190, Num 3, pp 580-587, issn 0022-1899, 8 p.Article

A novel form of cell type-specific partial IFN-γR1 deficiency caused by a germ line mutation of the IFNGR1 initiation codonKONG, Xiao-Fei; VOGT, Guillaume; GONNORD, Pauline et al.Human molecular genetics (Print). 2010, Vol 19, Num 3, pp 434-444, issn 0964-6906, 11 p.Article

A novel form of human STAT1 deficiency impairing early but not late responses to interferonsKONG, Xiao-Fei; CIANCANELLI, Michael; KREINS, Alexandra et al.Blood. 2010, Vol 116, Num 26, pp 5895-5906, issn 0006-4971, 12 p.Article

A role for interleukin-12/23 in the maturation of human natural killer and CD56+ T cells in vivoGUIA, Sophie; COGNET, Céline; AL JUMAAH, Suliman et al.Blood. 2008, Vol 111, Num 10, pp 5008-5016, issn 0006-4971, 9 p.Article

Analysis of the interleukin-12/interferon-γ pathway in children with non-tuberculous mycobacterial cervical lymphadenitisSEROUR, Francis; MIZRAHI, Avraham; SOMEKH, Eli et al.European journal of pediatrics. 2007, Vol 166, Num 8, pp 835-841, issn 0340-6199, 7 p.Article

Inherited disorders of the IL-12-IFN-γ axis in patients with disseminated BCG infectionMANSOURI, Davood; ADIMI, Parisa; VOGT, Guillaume et al.European journal of pediatrics. 2005, Vol 164, Num 12, pp 753-757, issn 0340-6199, 5 p.Article

X-linked anhidrotic ectodermal dysplasia with immunodeficiency is caused by impaired NF-KB signalingDÖFFINGER, Rainer; SMAHI, Asma; WOOD, Philip et al.Nature genetics. 2001, Vol 27, Num 3, pp 277-285, issn 1061-4036Article

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