AAAAAA

   
Results: 1-25 | 26-50 | 51-75 | 76-91
Results: 1-25/91
INCREASED PREVALENCE OF IMMUNOGLOBULIN-A DEFICIENCY IN PATIENTS WITH THE CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE-SYNDROME VELOCARDIOFACIAL SYNDROME)
Authors: SMITH CA DRISCOLL DA EMANUEL BS MCDONALDMCGINN DM ZACKAI EH SULLIVAN KE
Citation: Ca. Smith et al., INCREASED PREVALENCE OF IMMUNOGLOBULIN-A DEFICIENCY IN PATIENTS WITH THE CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE-SYNDROME VELOCARDIOFACIAL SYNDROME), Clinical and diagnostic laboratory immunology, 5(3), 1998, pp. 415-417
FREQUENCY OF 22Q11 DELETIONS IN PATIENTS WITH CONOTRUNCAL DEFECTS
Authors: GOLDMUNTZ E CLARK BJ MITCHELL LE JAWAD AF CUNEO BF REED L MCDONALDMCGINN D CHIEN P FEUER J ZACKAI EH EMANUEL BS DRISCOLL DA
Citation: E. Goldmuntz et al., FREQUENCY OF 22Q11 DELETIONS IN PATIENTS WITH CONOTRUNCAL DEFECTS, Journal of the American College of Cardiology, 32(2), 1998, pp. 492-498
CAT EYE SYNDROME CHROMOSOME BREAKPOINT CLUSTERING - IDENTIFICATION OF2 INTERVALS ALSO ASSOCIATED WITH 22Q11 DELETION SYNDROME BREAKPOINTS
Authors: MCTAGGART KE BUDARF ML DRISCOLL DA EMANUEL BS FERREIRA P MCDERMID HE
Citation: Ke. Mctaggart et al., CAT EYE SYNDROME CHROMOSOME BREAKPOINT CLUSTERING - IDENTIFICATION OF2 INTERVALS ALSO ASSOCIATED WITH 22Q11 DELETION SYNDROME BREAKPOINTS, Cytogenetics and cell genetics, 81(3-4), 1998, pp. 222-228
DEVELOPMENTAL PRESENTATION OF 22Q11.2 DELETION (DIGEORGE VELOCARDIOFACIAL-SYNDROME)/
Authors: WANG PP SOLOT C MOSS EM GERDES M MCDONALDMCGINN DM DRISCOLL DA EMANUEL BS ZACKAI EH
Citation: Pp. Wang et al., DEVELOPMENTAL PRESENTATION OF 22Q11.2 DELETION (DIGEORGE VELOCARDIOFACIAL-SYNDROME)/, Journal of developmental and behavioral pediatrics, 19(5), 1998, pp. 342-345
LACK OF CORRELATION BETWEEN IMPAIRED T-CELL PRODUCTION, IMMUNODEFICIENCY, AND OTHER PHENOTYPIC FEATURES IN CHROMOSOME 22Q11.2 DELETION SYNDROMES (DIGEORGE-SYNDROME VELOCARDIOFACIAL SYNDROME)
Authors: SULLIVAN KE JAWAD AF RANDALL P DRISCOLL DA EMANUEL BS MCDONALDMCGINN DM ZACKAI EH
Citation: Ke. Sullivan et al., LACK OF CORRELATION BETWEEN IMPAIRED T-CELL PRODUCTION, IMMUNODEFICIENCY, AND OTHER PHENOTYPIC FEATURES IN CHROMOSOME 22Q11.2 DELETION SYNDROMES (DIGEORGE-SYNDROME VELOCARDIOFACIAL SYNDROME), Clinical immunology and immunopathology, 86(2), 1998, pp. 141-146
GROWTH-HORMONE DEFICIENCY IN PATIENTS WITH A 22Q11.2 DELETION - EXPANDING THE PHENOTYPE
Authors: WEINZIMER SA MCDONALDMCGINN DM DRISCOLL DA EMANUEL BS ZACKAI EH MOSHANG T
Citation: Sa. Weinzimer et al., GROWTH-HORMONE DEFICIENCY IN PATIENTS WITH A 22Q11.2 DELETION - EXPANDING THE PHENOTYPE, Pediatrics, 101(5), 1998, pp. 929-932
AN EPENDYMOMA-ASSOCIATED CONSTITUTIONAL T(1-22)(P22-Q11.2)
Authors: RHODES CH CALL KM LITTLE R BRAUNSCHWEIGER K BUDARF ML EMANUEL BS BIGNER SH PARK JP MOHANDAS TK
Citation: Ch. Rhodes et al., AN EPENDYMOMA-ASSOCIATED CONSTITUTIONAL T(1-22)(P22-Q11.2), Journal of neuropathology and experimental neurology, 57(5), 1998, pp. 121-121
CHARACTERIZATION OF 10P DELETIONS SUGGESTS 2 NONOVERLAPPING REGIONS CONTRIBUTE TO THE DIGEORGE-SYNDROME PHENOTYPE
Authors: GOTTLIEB S DRISCOLL DA PUNNETT HH SELLINGER B EMANUEL BS BUDARF ML
Citation: S. Gottlieb et al., CHARACTERIZATION OF 10P DELETIONS SUGGESTS 2 NONOVERLAPPING REGIONS CONTRIBUTE TO THE DIGEORGE-SYNDROME PHENOTYPE, American journal of human genetics, 62(2), 1998, pp. 495-498
A REGION OF MOUSE CHROMOSOME-16 IS SYNTENIC TO THE DIGEORGE, VELOCARDIOFACIAL SYNDROME MINIMAL CRITICAL REGION (VOL 7, PG 17, 1997)
Authors: GALILI N BALDWIN HS LUND J REEVES R GONG WL WANG ZL ROE BA EMANUEL BS NAYAK S MICKANIN C BUDARF ML BUCK CA
Citation: N. Galili et al., A REGION OF MOUSE CHROMOSOME-16 IS SYNTENIC TO THE DIGEORGE, VELOCARDIOFACIAL SYNDROME MINIMAL CRITICAL REGION (VOL 7, PG 17, 1997), PCR methods and applications, 7(4), 1997, pp. 399-399
A REGION OF MOUSE CHROMOSOME-16 IS SYNTENIC TO THE DIGEORGE, VELOCARDIOFACIAL SYNDROME MINIMAL CRITICAL REGION
Authors: GALILI N BALDWIN HS LUND J REEVES R GONG WL WANG ZL ROE BA EMANUEL BS NAYAK S MICKANIN C BUDARF ML BUCK CA
Citation: N. Galili et al., A REGION OF MOUSE CHROMOSOME-16 IS SYNTENIC TO THE DIGEORGE, VELOCARDIOFACIAL SYNDROME MINIMAL CRITICAL REGION, PCR methods and applications, 7(1), 1997, pp. 17-26
DISRUPTION OF THE CLATHRIN HEAVY CHAIN-LIKE GENE (CLTCL) ASSOCIATED WITH FEATURES OF DGS VCFS - A BALANCED (21-22)(P12-Q11) TRANSLOCATION/
Authors: HOLMES SE RIAZI MA MCDERMID HE SELLINGER BT HUA A CHEN F WANG ZL ZHANG GZ ROE B GONZALEZ I MCDONALDMCGINN DM ZACKAI E EMANUEL BS BUDARF ML
Citation: Se. Holmes et al., DISRUPTION OF THE CLATHRIN HEAVY CHAIN-LIKE GENE (CLTCL) ASSOCIATED WITH FEATURES OF DGS VCFS - A BALANCED (21-22)(P12-Q11) TRANSLOCATION/, Human molecular genetics, 6(3), 1997, pp. 357-367
STRUCTURAL AND MUTATIONAL ANALYSIS OF A CONSERVED GENE (DGSI) FROM THE MINIMAL DIGEORGE-SYNDROME CRITICAL REGION
Authors: GONG WL EMANUEL BS GALILI N KIM DH ROE B DRISCOLL DA BUDARF ML
Citation: Wl. Gong et al., STRUCTURAL AND MUTATIONAL ANALYSIS OF A CONSERVED GENE (DGSI) FROM THE MINIMAL DIGEORGE-SYNDROME CRITICAL REGION, Human molecular genetics, 6(2), 1997, pp. 267-276
PROGRESS IN THE AUTOSOMAL SEGMENTAL ANEUSOMY SYNDROMES (SASS) - SINGLE OR MULTILOCUS DISORDERS
Authors: BUDARF ML EMANUEL BS
Citation: Ml. Budarf et Bs. Emanuel, PROGRESS IN THE AUTOSOMAL SEGMENTAL ANEUSOMY SYNDROMES (SASS) - SINGLE OR MULTILOCUS DISORDERS, Human molecular genetics, 6(10), 1997, pp. 1657-1665
ISOLATION AND CHARACTERIZATION OF A GENE FROM THE DIGEORGE CHROMOSOMAL REGION HOMOLOGOUS TO THE MOUSE TBX1 GENE
Authors: CHIEFFO C GARVEY N GONG WL ROE B ZHANG GZ SILVER L EMANUEL BS BUDARF ML
Citation: C. Chieffo et al., ISOLATION AND CHARACTERIZATION OF A GENE FROM THE DIGEORGE CHROMOSOMAL REGION HOMOLOGOUS TO THE MOUSE TBX1 GENE, Genomics, 43(3), 1997, pp. 267-277
MOLECULAR STUDIES OF AN EPENDYMOMA-ASSOCIATED CONSTITUTIONAL T(1-22)(P22-Q11.2)
Authors: RHODES CH CALL KM BUDARF ML BARNOSKI BL BELL CJ EMANUEL BS BIGNER SH PARK JP MOHANDAS TK
Citation: Ch. Rhodes et al., MOLECULAR STUDIES OF AN EPENDYMOMA-ASSOCIATED CONSTITUTIONAL T(1-22)(P22-Q11.2), Cytogenetics and cell genetics, 78(3-4), 1997, pp. 247-252
ENLARGED SYLVIAN FISSURES IN INFANTS WITH INTERSTITIAL DELETION OF CHROMOSOME 22Q11
Authors: BINGHAM PM ZIMMERMAN RA MCDONALDMCGINN D DRISCOLL D EMANUEL BS ZACKAI E
Citation: Pm. Bingham et al., ENLARGED SYLVIAN FISSURES IN INFANTS WITH INTERSTITIAL DELETION OF CHROMOSOME 22Q11, American journal of medical genetics, 74(5), 1997, pp. 538-543
SKELETAL ANOMALIES AND DEFORMITIES IN PATIENTS WITH DELETIONS OF 22Q11
Authors: MING JE MCDONALDMCGINN DM MEGERIAN TE DRISCOLL DA ELIAS ER RUSSELL BM IRONS M EMANUEL BS MARKOWITZ RI ZACKAI EH
Citation: Je. Ming et al., SKELETAL ANOMALIES AND DEFORMITIES IN PATIENTS WITH DELETIONS OF 22Q11, American journal of medical genetics, 72(2), 1997, pp. 210-215
UNBALANCED 15-22 TRANSLOCATION IN A PATIENT WITH MANIFESTATIONS OF DIGEORGE-SYNDROME AND VELOCARDIOFACIAL SYNDROME
Authors: JAQUEZ M DRISCOLL DA LI MR EMANUEL BS HERNANDEZ I JAQUEZ F LEMBERT N RAMIREZ J MATALON R
Citation: M. Jaquez et al., UNBALANCED 15-22 TRANSLOCATION IN A PATIENT WITH MANIFESTATIONS OF DIGEORGE-SYNDROME AND VELOCARDIOFACIAL SYNDROME, American journal of medical genetics, 70(1), 1997, pp. 6-10
NASAL DIMPLE AS PART OF THE 22Q11.2 DELETION SYNDROME
Authors: GRIPP KW MCDONALDMCGINN DM DRISCOLL DA REED LA EMANUEL BS ZACKAI EH
Citation: Kw. Gripp et al., NASAL DIMPLE AS PART OF THE 22Q11.2 DELETION SYNDROME, American journal of medical genetics, 69(3), 1997, pp. 290-292
DETECTION OF A 22Q11.2 DELETION IN CARDIAC PATIENTS SUGGESTS A RISK FOR VELOPHARYNGEAL INCOMPETENCE
Authors: MCDONALDMCGINN DM DRISCOLL DA EMANUEL BS GOLDMUNTZ E CLARK BJ SOLOT C COHEN M SCHULTZ P LAROSSA D RANDALL P ZACKAI EH
Citation: Dm. Mcdonaldmcginn et al., DETECTION OF A 22Q11.2 DELETION IN CARDIAC PATIENTS SUGGESTS A RISK FOR VELOPHARYNGEAL INCOMPETENCE, Pediatrics, 99(5), 1997, pp. 91-95
GENETIC-DISORDERS OF CARDIAC MORPHOGENESIS - THE DIGEORGE AND VELOCARDIOFACIAL SYNDROMES
Authors: GOLDMUNTZ E EMANUEL BS
Citation: E. Goldmuntz et Bs. Emanuel, GENETIC-DISORDERS OF CARDIAC MORPHOGENESIS - THE DIGEORGE AND VELOCARDIOFACIAL SYNDROMES, Circulation research, 80(4), 1997, pp. 437-443
JUVENILE RHEUMATOID ARTHRITIS-LIKE POLYARTHRITIS IN CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE ANOMALAD VELOCARDIOFACIAL SYNDROME CONOTRUNCAL ANOMALY FACE SYNDROME)
Authors: SULLIVAN KE MCDONALDMCGINN DM DRISCOLL DA ZMIJEWSKI CM ELLABBAN AS REED L EMANUEL BS ZACKAI EH ATHREYA BH KEENAN G
Citation: Ke. Sullivan et al., JUVENILE RHEUMATOID ARTHRITIS-LIKE POLYARTHRITIS IN CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE ANOMALAD VELOCARDIOFACIAL SYNDROME CONOTRUNCAL ANOMALY FACE SYNDROME), Arthritis and rheumatism, 40(3), 1997, pp. 430-436
GOOSECOID-LIKE SEQUENCES AND THE SMALLEST REGION OF DELETION OVERLAP IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES - REPLY
Authors: GOTTLIEB S EMANUEL BS BUDARF ML
Citation: S. Gottlieb et al., GOOSECOID-LIKE SEQUENCES AND THE SMALLEST REGION OF DELETION OVERLAP IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES - REPLY, American journal of human genetics, 61(6), 1997, pp. 1458-1459
MICRODELETION 22Q11.2 - CLINICAL-DATA AND DELETION SIZE
Authors: KERSTJENSFREDERIKSE WS SIEGELBARTELT J BEATTY B SCHEIDL T HENDERSON K CYTRYNBAUM C NIE G EMANUEL BS BUDART ML DRISCOLL D TESHIMA I
Citation: Ws. Kerstjensfrederikse et al., MICRODELETION 22Q11.2 - CLINICAL-DATA AND DELETION SIZE, American journal of human genetics, 61(4), 1997, pp. 159-159
SCREENING CARDIAC PATIENTS FOR 22Q11.2 DELETIONS
Authors: DRISCOLL DA EMANUEL BS BUDARF ML
Citation: Da. Driscoll et al., SCREENING CARDIAC PATIENTS FOR 22Q11.2 DELETIONS, American journal of human genetics, 61(4), 1997, pp. 160-160
Risultati: 1-25 | 26-50 | 51-75 | 76-91