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GOOSECOID-LIKE, A GENE DELETED IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES, RECOGNIZES DNA WITH A BICOID-LIKE SPECIFICITY AND IS EXPRESSED IN THE DEVELOPING MOUSE-BRAIN
Authors: GOTTLIEB S HANES SD GOLDEN JA OAKEY RJ BUDARF ML
Citation: S. Gottlieb et al., GOOSECOID-LIKE, A GENE DELETED IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES, RECOGNIZES DNA WITH A BICOID-LIKE SPECIFICITY AND IS EXPRESSED IN THE DEVELOPING MOUSE-BRAIN, Human molecular genetics (Print), 7(9), 1998, pp. 1497-1505
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
T(11-22)(23-Q11.2) IN ACUTE MYELOID-LEUKEMIA OF INFANT TWINS FUSES MLL WITH HCDCREL, A CELL-DIVISION CYCLE GENE IN THE GENOMIC REGION OF DELETION IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES (VOL 95, PG 6413, 1998)
Authors: MEGONIGAL MD RAPPAPORT EF JONES DH WILLIAMS TM LOVETT BD KELLY KM LEROU PH MOULTON T BUDARF ML FELIX CA
Citation: Md. Megonigal et al., T(11-22)(23-Q11.2) IN ACUTE MYELOID-LEUKEMIA OF INFANT TWINS FUSES MLL WITH HCDCREL, A CELL-DIVISION CYCLE GENE IN THE GENOMIC REGION OF DELETION IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES (VOL 95, PG 6413, 1998), Proceedings of the National Academy of Sciences of the United Statesof America, 95(17), 1998, pp. 10344-10344
T(11-22)(Q23-Q11.2) IN ACUTE MYELOID-LEUKEMIA OF INFANT TWINS FUSES MLL WITH HCDCREL, A CELL-DIVISION CYCLE GENE IN THE GENOMIC REGION OF DELETION IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES
Authors: MEGONIGAL MD RAPPAPORT EF JONES DH WILLIAMS TM LOVETT BD KELLY KM LEROU PH MOULTON T BUDARF ML FELIX CA
Citation: Md. Megonigal et al., T(11-22)(Q23-Q11.2) IN ACUTE MYELOID-LEUKEMIA OF INFANT TWINS FUSES MLL WITH HCDCREL, A CELL-DIVISION CYCLE GENE IN THE GENOMIC REGION OF DELETION IN DIGEORGE AND VELOCARDIOFACIAL SYNDROMES, Proceedings of the National Academy of Sciences of the United Statesof America, 95(11), 1998, pp. 6413-6418
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
INTERCHROMOSOMAL DUPLICATIONS OF THE ADRENOLEUKODYSTROPHY LOCUS - A PHENOMENON OF PERICENTROMERIC PLASTICITY
Authors: EICHLER EE BUDARF ML ROCCHI M DEAVEN LL DOGGETT NA BALDINI A NELSON DL MOHRENWEISER HW
Citation: Ee. Eichler et al., INTERCHROMOSOMAL DUPLICATIONS OF THE ADRENOLEUKODYSTROPHY LOCUS - A PHENOMENON OF PERICENTROMERIC PLASTICITY, Human molecular genetics, 6(7), 1997, pp. 991-1002
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
PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13
Authors: MATTHIJS G SCHOLLEN E PIRARD M BUDARF ML VANSCHAFTINGEN E CASSIMAN JJ
Citation: G. Matthijs et al., PMM (PMM1), THE HUMAN HOMOLOG OF SEC53 OR YEAST PHOSPHOMANNOMUTASE, IS LOCALIZED ON CHROMOSOME 22Q13, Genomics, 40(1), 1997, pp. 41-47
MOLECULAR CHARACTERIZATION OF A SERINE THREONINE KINASE IN THE DIGEORGE MINIMAL CRITICAL REGION/
Authors: GOLDMUNTZ E FEDON J ROE B BUDARF ML
Citation: E. Goldmuntz et al., MOLECULAR CHARACTERIZATION OF A SERINE THREONINE KINASE IN THE DIGEORGE MINIMAL CRITICAL REGION/, Gene, 198(1-2), 1997, pp. 379-386
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
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
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
MOLECULAR EVIDENCE FOR 3 1-MEIOTIC (MI) MALSEGREGATION IN THE SUPERNUMERARY DER(22) SYNDROME/
Authors: SHAIKH TH DRISCOLL D BUDARF ML EMANUEL BS
Citation: Th. Shaikh et al., MOLECULAR EVIDENCE FOR 3 1-MEIOTIC (MI) MALSEGREGATION IN THE SUPERNUMERARY DER(22) SYNDROME/, American journal of human genetics, 61(4), 1997, pp. 262-262
THE DIGEORGE-SYNDROME MINIMAL CRITICAL REGION CONTAINS A GOOSECOID-LIKE (GSCL) HOMEOBOX GENE THAT IS EXPRESSED EARLY IN HUMAN-DEVELOPMENT
Authors: GOTTLIEB S EMANUEL BS DRISCOLL DA SELLINGER B WANG ZL ROE B BUDARF ML
Citation: S. Gottlieb et al., THE DIGEORGE-SYNDROME MINIMAL CRITICAL REGION CONTAINS A GOOSECOID-LIKE (GSCL) HOMEOBOX GENE THAT IS EXPRESSED EARLY IN HUMAN-DEVELOPMENT, American journal of human genetics, 60(5), 1997, pp. 1194-1201
LONG-RANGE MAPPING AND CONSTRUCTION OF A YAC CONTIG WITHIN THE CAT EYE SYNDROME CRITICAL REGION
Authors: MCDERMID HE MCTAGGART KE RIAZI MA HUDSON TJ BUDARF ML EMANUEL BS BELL CJ
Citation: He. Mcdermid et al., LONG-RANGE MAPPING AND CONSTRUCTION OF A YAC CONTIG WITHIN THE CAT EYE SYNDROME CRITICAL REGION, PCR methods and applications, 6(12), 1996, pp. 1149-1159
NARROWING THE CRITICAL REGION FOR A RHABDOID TUMOR LOCUS IN 22Q11
Authors: BIEGEL JA ALLEN CS KAWASAKI K SHIMIZU N BUDARF ML BELL CJ
Citation: Ja. Biegel et al., NARROWING THE CRITICAL REGION FOR A RHABDOID TUMOR LOCUS IN 22Q11, Genes, chromosomes & cancer, 16(2), 1996, pp. 94-105
REGIONAL LOCALIZATION OF OVER 300 LOCI ON HUMAN-CHROMOSOME-22 USING ASOMATIC-CELL HYBRID MAPPING PANEL
Authors: BUDARF ML ECKMAN B MICHAUD D MCDONALD T GAVIGAN S BUETOW KH TATSUMURA Y LIU ZG HILLIARD C DRISCOLL D GOLDMUNTZ E MEESE E ZWARTHOFF EC WILLIAMS S MCDERMID H DUMANSKI JP BIEGEL J BELL CJ EMANUEL BS
Citation: Ml. Budarf et al., REGIONAL LOCALIZATION OF OVER 300 LOCI ON HUMAN-CHROMOSOME-22 USING ASOMATIC-CELL HYBRID MAPPING PANEL, Genomics, 35(2), 1996, pp. 275-288
CLONING, GENOMIC ORGANIZATION, AND CHROMOSOMAL LOCALIZATION OF HUMAN CITRATE TRANSPORT PROTEIN TO THE DIGEORGE VELOCARDIOFACIAL SYNDROME MINIMAL CRITICAL REGION
Authors: GOLDMUNTZ E WANG ZL ROE BA BUDARF ML
Citation: E. Goldmuntz et al., CLONING, GENOMIC ORGANIZATION, AND CHROMOSOMAL LOCALIZATION OF HUMAN CITRATE TRANSPORT PROTEIN TO THE DIGEORGE VELOCARDIOFACIAL SYNDROME MINIMAL CRITICAL REGION, Genomics, 33(2), 1996, pp. 271-276
IDENTIFICATION OF A MUTATION IN A GATA BINDING-SITE OF THE PLATELET GLYCOPROTEIN IB-BETA PROMOTER RESULTING IN THE BERNARD-SOULIER SYNDROME
Authors: LUDLOW LB SCHICK BP BUDARF ML DRISCOLL DA ZACKAI EH COHEN A KONKLE BA
Citation: Lb. Ludlow et al., IDENTIFICATION OF A MUTATION IN A GATA BINDING-SITE OF THE PLATELET GLYCOPROTEIN IB-BETA PROMOTER RESULTING IN THE BERNARD-SOULIER SYNDROME, The Journal of biological chemistry, 271(36), 1996, pp. 22076-22080
Risultati: 1-25 | 26-50 | 51-55