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Results: 1-20 |
Results: 20
SOMATIC AND GERM-LINE MOSAICISM AND MUTATION ORIGIN FOR A MUTATION INTHE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS
Authors: DU JS BASON L WOFFENDIN H ZACKAI E KENWRICK S
Citation: Js. Du et al., SOMATIC AND GERM-LINE MOSAICISM AND MUTATION ORIGIN FOR A MUTATION INTHE L1 GENE IN A FAMILY WITH X-LINKED HYDROCEPHALUS, American journal of medical genetics, 75(2), 1998, pp. 200-202
POLYMICROGYRIA IN CHROMOSOME-22 DELETION SYNDROME
Authors: BINGHAM PM LYNCH D MCDONALDMCGINN D ZACKAI E
Citation: Pm. Bingham et al., POLYMICROGYRIA IN CHROMOSOME-22 DELETION SYNDROME, Neurology, 51(5), 1998, pp. 1500-1502
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
A TRANSCRIPT MAP OF THE NEWLY DEFINED 165 KB WOLF-HIRSCHHORN SYNDROMECRITICAL REGION
Authors: WRIGHT TJ RICKE DO DENISON K ABMAYR S COTTER PD HIRSCHHORN K KEINANEN M MCDONALDMCGINN D SOMER M SPINNER N YANGFENG T ZACKAI E ALTHERR MR
Citation: Tj. Wright et al., A TRANSCRIPT MAP OF THE NEWLY DEFINED 165 KB WOLF-HIRSCHHORN SYNDROMECRITICAL REGION, Human molecular genetics, 6(2), 1997, pp. 317-324
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
MATURATION OF CELLULAR-IMMUNITY IN CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE-SYNDROME)
Authors: SULLIVAN KE DRISCOLL D EMANUAL B MCDONALDMCGINN D ZACKAI E
Citation: Ke. Sullivan et al., MATURATION OF CELLULAR-IMMUNITY IN CHROMOSOME 22Q11.2 DELETION SYNDROME (DIGEORGE-SYNDROME), Journal of allergy and clinical immunology, 99(1), 1997, pp. 1600-1600
A REVIEW OF 3 CASES OF COMBINED PARTIAL TRISOMY FOR 6Q23-]TER AND PARTIAL MONOSOMY FOR 10Q26-]TER
Authors: RODRIGUEZ C DAYSALVATORE D PELLEGRINO J ZACKAI E SMITH R DESPOSITO F
Citation: C. Rodriguez et al., A REVIEW OF 3 CASES OF COMBINED PARTIAL TRISOMY FOR 6Q23-]TER AND PARTIAL MONOSOMY FOR 10Q26-]TER, American journal of human genetics, 61(4), 1997, pp. 623-623
CONGENITAL-ANOMALIES IN CHILDREN WITH PERISYLVIAN DYSGENESIS
Authors: BINGHAM PM LOUIE J PARRISH B ZIMMERMAN RA ZACKAI E
Citation: Pm. Bingham et al., CONGENITAL-ANOMALIES IN CHILDREN WITH PERISYLVIAN DYSGENESIS, Annals of neurology, 40(2), 1996, pp. 48-48
BLEPHARO-CHEILO-DONTIC (BCD) SYNDROME
Authors: GORLIN RJ ZELLWEGER H CURTIS MW WIEDEMANN HR WARBURG M MAJEWSKI F GILLESSENKAESBACH G PRAHLANDERSEN B ZACKAI E
Citation: Rj. Gorlin et al., BLEPHARO-CHEILO-DONTIC (BCD) SYNDROME, American journal of medical genetics, 65(2), 1996, pp. 109-112
GROWTH-HORMONE DEFICIENCY IN THE 22Q11 DELETION SYNDROME - A REPORT OF 3 CASES
Authors: WEINZIMER SA MCDONALDMCGINN D ZACKAI E MOSHANG M
Citation: Sa. Weinzimer et al., GROWTH-HORMONE DEFICIENCY IN THE 22Q11 DELETION SYNDROME - A REPORT OF 3 CASES, Pediatric research, 39(4), 1996, pp. 881-881
MUTATIONS IN THE KINASE RSK-2 ASSOCIATED WITH COFFIN-LOWRY SYNDROME
Authors: TRIVIER E DECESARE D JACQUOT S PANNETIER S ZACKAI E YOUNG I MANDEL JL SASSONECORSI P HANAUER A
Citation: E. Trivier et al., MUTATIONS IN THE KINASE RSK-2 ASSOCIATED WITH COFFIN-LOWRY SYNDROME, Nature, 384(6609), 1996, pp. 567-570
SUPERNUMERARY INV DUP(15) IN A PATIENT WITH ANGELMAN SYNDROME AND DEL(15)(Q11Q13)
Authors: SPINNER NB ZACKAI E KLINE R DECHENG S KNOLL J
Citation: Nb. Spinner et al., SUPERNUMERARY INV DUP(15) IN A PATIENT WITH ANGELMAN SYNDROME AND DEL(15)(Q11Q13), Cytogenetics and cell genetics, 69(1-2), 1995, pp. 116-116
SUPERNUMERARY INV DUP(15) IN A PATIENT WITH ANGELMAN SYNDROME AND A DELETION OF 15Q11-]13
Authors: SPINNER NB ZACKAI E CHENG SD KNOLL JHM
Citation: Nb. Spinner et al., SUPERNUMERARY INV DUP(15) IN A PATIENT WITH ANGELMAN SYNDROME AND A DELETION OF 15Q11-]13, American journal of medical genetics, 57(1), 1995, pp. 61-65
MOSAICISM FOR A CHROMOSOME-8-DERIVED MINUTE MARKER CHROMOSOME IN A PATIENT WITH MANIFESTATIONS OF TRISOMY-8 MOSAICISM
Authors: SPINNER NR GRACE KR OWENS NL SOVINSKY L PELLEGRINO JE MCDONALDMCGINN D ZACKAI E
Citation: Nr. Spinner et al., MOSAICISM FOR A CHROMOSOME-8-DERIVED MINUTE MARKER CHROMOSOME IN A PATIENT WITH MANIFESTATIONS OF TRISOMY-8 MOSAICISM, American journal of medical genetics, 56(1), 1995, pp. 22-24
BRAIN-STEM MASS LESIONS IN NEUROFIBROMATOSIS TYPE-I - A DISTINCT CLINICAL ENTITY
Authors: MOLLOY PT BILANIUK L NEEDLE M VAUGHAN SN ZACKAI E PHILLIPS PC
Citation: Pt. Molloy et al., BRAIN-STEM MASS LESIONS IN NEUROFIBROMATOSIS TYPE-I - A DISTINCT CLINICAL ENTITY, Annals of neurology, 36(3), 1994, pp. 549-549
OTOLOGIC MANIFESTATIONS OF NEUROFIBROMATOSIS
Authors: SMULLEN S WILLCOX T WETMORE R ZACKAI E
Citation: S. Smullen et al., OTOLOGIC MANIFESTATIONS OF NEUROFIBROMATOSIS, The Laryngoscope, 104(6), 1994, pp. 663-665
MISALIGNMENT OF PULMONARY VEINS WITH ALVEOLAR-CAPILLARY DYSPLASIA - AFFECTED SIBLINGS AND VARIABLE PHENOTYPIC-EXPRESSION
Authors: BOGGS S HARRIS MC HOFFMAN DJ GOEL R MCDONALDMCGINN D LANGSTON C ZACKAI E RUCHELLI E
Citation: S. Boggs et al., MISALIGNMENT OF PULMONARY VEINS WITH ALVEOLAR-CAPILLARY DYSPLASIA - AFFECTED SIBLINGS AND VARIABLE PHENOTYPIC-EXPRESSION, The Journal of pediatrics, 124(1), 1994, pp. 125-128
HIGH-RESOLUTION MAPPING OF INTERSTITIAL LONG ARM DELETIONS OF CHROMOSOME-16 - RELATIONSHIP TO PHENOTYPE
Authors: CALLEN DF EYRE H LANE S SHEN Y HANSMANN I SPINNER N ZACKAI E MCDONALDMCGINN D SCHUFFENHAUER S WAUTERS J VANTHIENEN MN VANROY B SUTHERLAND GR HAAN EA
Citation: Df. Callen et al., HIGH-RESOLUTION MAPPING OF INTERSTITIAL LONG ARM DELETIONS OF CHROMOSOME-16 - RELATIONSHIP TO PHENOTYPE, Journal of Medical Genetics, 30(10), 1993, pp. 828-832
MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE IN 8 PARTIAL TRISOMY-18 INDIVIDUALS
Authors: MEWAR R KLINE AD SELL L HARRISON W ROJAS K ZACKAI E SHAPIRO R OVERHAUSER J
Citation: R. Mewar et al., MOLECULAR MAPPING OF THE EDWARDS-SYNDROME PHENOTYPE IN 8 PARTIAL TRISOMY-18 INDIVIDUALS, American journal of human genetics, 53(3), 1993, pp. 223-223
GENETIC-HETEROGENEITY AMONG CRANIOSYNOSTOSIS SYNDROMES - REFINING THESAETHRE-CHOTZEN SYNDROME LOCUS POSITION TO AND EXCLUSION OF JACKSON-WEISS AND CROUZON SYNDROME LOCI FROM DISTAL-7P
Authors: LEWANDA A COHEN M JACKSON C TAYLOR E BELOFF M DAY D CLARREN S ORTIZ RI GARCIA C HAUSELMAN E FIGUEROA A WULFSBERG E WARMAN M REID C ZACKAI E JABS E
Citation: A. Lewanda et al., GENETIC-HETEROGENEITY AMONG CRANIOSYNOSTOSIS SYNDROMES - REFINING THESAETHRE-CHOTZEN SYNDROME LOCUS POSITION TO AND EXCLUSION OF JACKSON-WEISS AND CROUZON SYNDROME LOCI FROM DISTAL-7P, American journal of human genetics, 53(3), 1993, pp. 245-245
Risultati: 1-20 |