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Results: 1-25 | 26-30
Results: 1-25/30
IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL
Authors: GILAD S KHOSRAVI R HARNIK R ZIV Y SHKEDY D GALANTY Y FRYDMAN M LEVI J SANAL O CHESSA L SMEETS D SHILOH Y BARSHIRA A
Citation: S. Gilad et al., IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL, Human mutation, 11(1), 1998, pp. 69-75
IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL
Authors: GILAD S KHOSRAVI R HARNIK R ZIV Y SHKEDY D GALANTY Y FRYDMAN M LEVI J SANAL O CHESSA L SMEETS D SHILOH Y BARSHIRA A
Citation: S. Gilad et al., IDENTIFICATION OF ATM MUTATIONS USING EXTENDED RT-PCR AND RESTRICTION-ENDONUCLEASE FINGERPRINTING, AND ELUCIDATION OF THE REPERTOIRE OF A-TMUTATIONS IN ISRAEL, Human mutation, 11(1), 1998, pp. 69-75
SERUM IGD CONCENTRATIONS IN PATIENTS WITH ATAXIA-TELANGIECTASIA AND WITH SELECTIVE IGA DEFICIENCY
Authors: SANAL O OZALTIN F TEZCAN I ERSOY F
Citation: O. Sanal et al., SERUM IGD CONCENTRATIONS IN PATIENTS WITH ATAXIA-TELANGIECTASIA AND WITH SELECTIVE IGA DEFICIENCY, International archives of allergy and immunology, 116(3), 1998, pp. 246-246
BONE-MARROW TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCIES AND OSTEOPETROSIS FROM TURKEY
Authors: TEZCAN I ERSOY F CETIN M SANAL O UCKAN D TUNCER M
Citation: I. Tezcan et al., BONE-MARROW TRANSPLANTATION FOR PRIMARY IMMUNODEFICIENCIES AND OSTEOPETROSIS FROM TURKEY, Bone marrow transplantation, 21, 1998, pp. 436-436
ANTIBODY-PRODUCTION AGAINST PNEUMOCOCCAL POLYSACCHARIDE IN PATIENTS WITH ATAXIA-TELANGIECTASIA
Authors: SANAL O ERSOY F TEZCAN I METIN A YEL L BERKEL AI GARIBOGLU S
Citation: O. Sanal et al., ANTIBODY-PRODUCTION AGAINST PNEUMOCOCCAL POLYSACCHARIDE IN PATIENTS WITH ATAXIA-TELANGIECTASIA, Molecular immunology, 35(11-12), 1998, pp. 756-756
SUCCESSFUL BMT IN A CASE WITH GRISCELLI-DISEASE WHO PRESENTED WITH NEUROLOGICAL MANIFESTATIONS
Authors: TEZCAN I SANAL O ERSOY F METIN A KILIC S ONER C TUNCER M BERKEL AI
Citation: I. Tezcan et al., SUCCESSFUL BMT IN A CASE WITH GRISCELLI-DISEASE WHO PRESENTED WITH NEUROLOGICAL MANIFESTATIONS, Molecular immunology, 35(11-12), 1998, pp. 775-775
A CASE OF CHRONIC SEVERE NEUTROPENIA - ORAL FINDINGS AND CONSEQUENCESOF SHORT-TERM GRANULOCYTE-COLONY-STIMULATING FACTOR TREATMENT
Authors: HASTURK H TEZCAN I YEL L ERSOY F SANAL O YAMALIK N BERKER E
Citation: H. Hasturk et al., A CASE OF CHRONIC SEVERE NEUTROPENIA - ORAL FINDINGS AND CONSEQUENCESOF SHORT-TERM GRANULOCYTE-COLONY-STIMULATING FACTOR TREATMENT, Australian dental journal, 43(1), 1998, pp. 9-13
A CASE OF X-LINKED AGAMMAGLOBULINEMIA COMPLICATED WITH SYSTEMIC AMYLOIDOSIS
Authors: TEZCAN I ERSOY F SANAL O GONC EN ARICI M BERKEL I
Citation: I. Tezcan et al., A CASE OF X-LINKED AGAMMAGLOBULINEMIA COMPLICATED WITH SYSTEMIC AMYLOIDOSIS, Archives of Disease in Childhood, 79(1), 1998, pp. 94-94
GRISCELLI-DISEASE MAPS TO CHROMOSOME 15Q21 AND IS ASSOCIATED WITH MUTATIONS IN THE MYOSIN-VA GENE
Authors: PASTURAL E BARRAT FJ DUFOURCQLAGELOUSE R CERTAIN S SANAL O JABADO N SEGER R GRISCELLI C FISCHER A DESAINTBASILE G
Citation: E. Pastural et al., GRISCELLI-DISEASE MAPS TO CHROMOSOME 15Q21 AND IS ASSOCIATED WITH MUTATIONS IN THE MYOSIN-VA GENE, Nature genetics, 16(3), 1997, pp. 289-292
DEVELOPMENT OF SYSTEMIC LUPUS-ERYTHEMATOSUS IN A PATIENT WITH SELECTIVE COMPLETE C1Q DEFICIENCY
Authors: BERKEL AI PETRY F SANAL O TINAZTEPE K ERSOY F BAKKALOGLU A LOOS M
Citation: Ai. Berkel et al., DEVELOPMENT OF SYSTEMIC LUPUS-ERYTHEMATOSUS IN A PATIENT WITH SELECTIVE COMPLETE C1Q DEFICIENCY, European journal of pediatrics, 156(2), 1997, pp. 113-115
CLINICAL SPECTRUM OF X-LINKED HYPER-IGM SYNDROME
Authors: LEVY J ESPANOLBOREN T THOMAS C FISCHER A TOVO P BORDIGONI P RESNICK I FASTH A BAER M GOMEZ L SANDERS EAM TABONE MD PLANTAZ D ETZIONI A MONAFO V ABINUN M HAMMARSTROM L ABRAHAMSEN T JONES A FINN A KLEMOLA T DEVRIES E SANAL O PEITSCH MC NOTARANGELO LD
Citation: J. Levy et al., CLINICAL SPECTRUM OF X-LINKED HYPER-IGM SYNDROME, The Journal of pediatrics, 131(1), 1997, pp. 47-54
A CASE OF LEUKOCYTE ADHESION DEFICIENCY (LAD) PRESENTING WITH NASAL-SEPTUM PERFORATION AND NECROTIZING ULCER ON ALA NASI
Authors: TEZCAN I YEL L ONERCI M SANAL O ERSOY F BERKEL AI
Citation: I. Tezcan et al., A CASE OF LEUKOCYTE ADHESION DEFICIENCY (LAD) PRESENTING WITH NASAL-SEPTUM PERFORATION AND NECROTIZING ULCER ON ALA NASI, American journal of rhinology, 10(6), 1996, pp. 383-386
HOMOZYGOUS C2 DEFICIENCY - ASSOCIATION WITH DEFECTIVE ALTERNATIVE PATHWAY FUNCTION AND IMMUNOGLOBULIN DEFICIENCY
Authors: SANAL O YEL L TEZCAN I ERSOY F BERKEL AI
Citation: O. Sanal et al., HOMOZYGOUS C2 DEFICIENCY - ASSOCIATION WITH DEFECTIVE ALTERNATIVE PATHWAY FUNCTION AND IMMUNOGLOBULIN DEFICIENCY, International archives of allergy and immunology, 110(2), 1996, pp. 195-198
PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA
Authors: GILAD S KHOSRAVI R SHKEDY D UZIEL T ZIV Y SAVITSKY K ROTMAN G SMITH S CHESSA L JORGENSEN TJ HARNIK R FRYDMAN M SANAL O PORTNOI S GOLDWICZ Z JASPERS NGJ GATTI RA LENOIR G LAVIN MF TATSUMI K WEGNER RD SHILOH Y BARSHIRA A
Citation: S. Gilad et al., PREDOMINANCE OF NULL MUTATIONS IN ATAXIA-TELANGIECTASIA, Human molecular genetics, 5(4), 1996, pp. 433-439
AN INFANT WITH SEVERE LEUKOCYTE ADHESION DEFICIENCY
Authors: GUNESER S ALTINTAS DU AKSUNGUR P HERGUNER O SANAL O
Citation: S. Guneser et al., AN INFANT WITH SEVERE LEUKOCYTE ADHESION DEFICIENCY, Acta paediatrica, 85(5), 1996, pp. 622-624
DYSKERATOSIS-CONGENITA - UNUSUAL ONSET WITH ISOLATED NEUTROPENIA AT AN EARLY AGE
Authors: YEL L TEZCAN I SANAL O ERSOY F BERKEL AI
Citation: L. Yel et al., DYSKERATOSIS-CONGENITA - UNUSUAL ONSET WITH ISOLATED NEUTROPENIA AT AN EARLY AGE, Acta Paediatrica Japonica Overseas Edition, 38(3), 1996, pp. 288-290
IGG SUBCLASSES IN CHILDREN WITH RECURRENT RESPIRATORY-TRACT INFECTIONS IN AN ALLERGY PRACTICE
Authors: SEKEREL BE SARACLAR Y SANAL O ERSOY F ADALIOGLU G TUNCER A
Citation: Be. Sekerel et al., IGG SUBCLASSES IN CHILDREN WITH RECURRENT RESPIRATORY-TRACT INFECTIONS IN AN ALLERGY PRACTICE, Acta Paediatrica Japonica Overseas Edition, 38(2), 1996, pp. 124-127
LOW EXPRESSION OF T-CELL RECEPTOR-CD3 COMPLEX - A CASE WITH A CLINICAL PRESENTATION RESEMBLING HUMORAL IMMUNODEFICIENCY
Authors: SANAL O YEL L ERSOY F TEZCAN I BERKEL AI
Citation: O. Sanal et al., LOW EXPRESSION OF T-CELL RECEPTOR-CD3 COMPLEX - A CASE WITH A CLINICAL PRESENTATION RESEMBLING HUMORAL IMMUNODEFICIENCY, Turkish Journal of Pediatrics, 38(1), 1996, pp. 81-84
HUMAN T-CELL REPERTOIRE GENERATION IN THE ABSENCE OF MHC CLASS-II EXPRESSION RESULTS IN A CIRCULATING CD4(-) POPULATION WITH ALTERED PHYSICOCHEMICAL PROPERTIES OF COMPLEMENTARITY-DETERMINING REGION-3()CD8()
Authors: HENWOOD J VANEGGERMOND MCJA VANBOXELDEZAIRE AHH SCHIPPER R DENHOEDT M PEIJNENBURG A SANAL O ERSOY F RIJKERS GT ZEGERS BJM VOSSEN JM VANTOL MJD VANDENELSEN PJ
Citation: J. Henwood et al., HUMAN T-CELL REPERTOIRE GENERATION IN THE ABSENCE OF MHC CLASS-II EXPRESSION RESULTS IN A CIRCULATING CD4(-) POPULATION WITH ALTERED PHYSICOCHEMICAL PROPERTIES OF COMPLEMENTARITY-DETERMINING REGION-3()CD8(), The Journal of immunology, 156(3), 1996, pp. 895-906
A CASE OF ADENOSINE-DEAMINASE - NEGATIVE SEVERE COMBINED IMMUNODEFICIENCY WITH NEUROLOGICAL ABNORMALITIES
Authors: TEZCAN I ERSOY F CAGLAR M SANAL O KOTILOGLU E AYSUN S
Citation: I. Tezcan et al., A CASE OF ADENOSINE-DEAMINASE - NEGATIVE SEVERE COMBINED IMMUNODEFICIENCY WITH NEUROLOGICAL ABNORMALITIES, Turkish Journal of Pediatrics, 37(4), 1995, pp. 383-389
BARE LYMPHOCYTE SYNDROME WITH LACK OF HLA CLASS-I AND CLASS-II ANTIGENS PRESENTATION OF 2 CASES
Authors: ERSOY F SANAL O TEZCAN I YEL L METIN A
Citation: F. Ersoy et al., BARE LYMPHOCYTE SYNDROME WITH LACK OF HLA CLASS-I AND CLASS-II ANTIGENS PRESENTATION OF 2 CASES, Turkish Journal of Pediatrics, 37(2), 1995, pp. 141-146
A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE
Authors: SAVITSKY K BARSHIRA A GILAD S ROTMAN G ZIV Y VANAGAITE L TAGLE DA SMITH S UZIEL T SFEZ S ASHKENAZI M PECKER I FRYDMAN M HARNIK R PATANJALI SR SIMMONS A CLINES GA SARTIEL A GATTI RA CHESSA L SANAL O LAVIN MF JASPERS NGJ MALCOLM A TAYLOR R ARLETT CF MIKI T WEISSMAN SM LOVETT M COLLINS FS SHILOH Y
Citation: K. Savitsky et al., A SINGLE ATAXIA-TELANGIECTASIA GENE WITH A PRODUCT SIMILAR TO PI-3 KINASE, Science, 268(5218), 1995, pp. 1749-1753
LOCATION OF AN ATAXIA-TELANGIECTASIA GENE TO AN SIMILAR-TO-500-KB INTERVAL ON CHROMOSOME 11Q23.1 - LINKAGE ANALYSIS OF 176 FAMILIES BY AN INTERNATIONAL CONSORTIUM
Authors: LANGE E BORRESEN AL CHEN XG CHESSA L CHIPLUNKAR S CONCANNON P DANDEKAR S GERKEN S LANGE K LIANG T MCCONVILLE C POLAKOW J PORRAS O ROTMAN G SANAL O SHEIKHAVANDI S SHILOH Y SOBEL E TAYLOR M TELATAR M TERAOKA S TOLUN A UDAR N UHRHAMMER N VANAGAITE L WANG ZJ WAPELHORST B WRIGHT J YANG HM YANG L ZIV Y GATTI RA
Citation: E. Lange et al., LOCATION OF AN ATAXIA-TELANGIECTASIA GENE TO AN SIMILAR-TO-500-KB INTERVAL ON CHROMOSOME 11Q23.1 - LINKAGE ANALYSIS OF 176 FAMILIES BY AN INTERNATIONAL CONSORTIUM, American journal of human genetics, 57(1), 1995, pp. 112-119
GENETIC HAPLOTYPING OF ATAXIA-TELANGIECTASIA FAMILIES LOCALIZES THE MAJOR GENE TO AN SIMILAR-TO-850 KB REGION ON CHROMOSOME 11Q23.1
Authors: GATTI RA LANGE E ROTMAN G CHEN X UHRHAMMER N LIANG T CHIPLUNKAR S YANG L UDAR N DANDEKAR S SHEIKHAVANDI S WANG Z YANG HM POLIKOW J ELASHOFF M TELETAR M SANAL O CHESSA L MCCONVILLE C TAYLOR M PORRAS O BORRESEN AL WEGNER RD CURRY C GERKEN S LANGE K CONCANNON P SHILOH Y
Citation: Ra. Gatti et al., GENETIC HAPLOTYPING OF ATAXIA-TELANGIECTASIA FAMILIES LOCALIZES THE MAJOR GENE TO AN SIMILAR-TO-850 KB REGION ON CHROMOSOME 11Q23.1, International journal of radiation biology, 66(6), 1994, pp. 57-62
KIDNEY PATHOLOGY IN A PATIENT WITH SEVERE COMBINED IMMUNODEFICIENCY DISEASE
Authors: SANAL O CAGLAR M ERSOY F COSKUN Y TEZCAN I
Citation: O. Sanal et al., KIDNEY PATHOLOGY IN A PATIENT WITH SEVERE COMBINED IMMUNODEFICIENCY DISEASE, Turkish Journal of Pediatrics, 36(4), 1994, pp. 319-323
Risultati: 1-25 | 26-30