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Results: 1-25 | 26-35
Results: 1-25/35
ORIGIN OF THE MAR3 IN THE MYELOID CELL-LINE HL-60 DETERMINED BY FLUORESCENCE IN-SITU HYBRIDIZATION
Authors: BIRDSALL SH MCMANUS A SHIPLEY JM CROLLA JA
Citation: Sh. Birdsall et al., ORIGIN OF THE MAR3 IN THE MYELOID CELL-LINE HL-60 DETERMINED BY FLUORESCENCE IN-SITU HYBRIDIZATION, Cancer genetics and cytogenetics, 103(1), 1998, pp. 86-87
FISH AND MOLECULAR STUDY OF AUTOSOMAL SUPERNUMERARY MARKER CHROMOSOMES EXCLUDING THOSE DERIVED FROM CHROMOSOME-15 AND CHROMOSOME-22 - I - RESULTS OF 26 NEW CASES
Authors: CROLLA JA LONG F RIVERA H DENNIS NR
Citation: Ja. Crolla et al., FISH AND MOLECULAR STUDY OF AUTOSOMAL SUPERNUMERARY MARKER CHROMOSOMES EXCLUDING THOSE DERIVED FROM CHROMOSOME-15 AND CHROMOSOME-22 - I - RESULTS OF 26 NEW CASES, American journal of medical genetics, 75(4), 1998, pp. 355-366
FISH AND MOLECULAR STUDIES OF AUTOSOMAL SUPERNUMERARY MARKER CHROMOSOMES EXCLUDING THOSE DERIVED FROM CHROMOSOME-15 - II - REVIEW OF THE LITERATURE
Authors: CROLLA JA
Citation: Ja. Crolla, FISH AND MOLECULAR STUDIES OF AUTOSOMAL SUPERNUMERARY MARKER CHROMOSOMES EXCLUDING THOSE DERIVED FROM CHROMOSOME-15 - II - REVIEW OF THE LITERATURE, American journal of medical genetics, 75(4), 1998, pp. 367-381
TRIPLICATION OF 15Q11-Q13 WITH INV DUP(15) IN A FEMALE WITH DEVELOPMENTAL DELAY
Authors: LONG FL DUCKETT DP BILLAM LJ WILLIAMS DK CROLLA JA
Citation: Fl. Long et al., TRIPLICATION OF 15Q11-Q13 WITH INV DUP(15) IN A FEMALE WITH DEVELOPMENTAL DELAY, Journal of Medical Genetics, 35(5), 1998, pp. 425-428
REFINED MOLECULAR CHARACTERIZATION OF THE BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES
Authors: HUANG B CROLLA JA CHRISTIAN SL WOLFLEDBETTER ME MACHA ME PAPENHAUSEN PN LEDBETTER DH
Citation: B. Huang et al., REFINED MOLECULAR CHARACTERIZATION OF THE BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES, Human genetics, 99(1), 1997, pp. 11-17
SUPERNUMERARY MAR(15) WITHOUT PRADER-WILLI ANGELMAN-SYNDROME CRITICALREGION (PWASCR) EUCHROMATIN, MATERNAL HETERODISOMY AND PRADER-WILLI PHENOTYPE/
Authors: DOCOFENZY M CROLLA JA AZEMAR V MOTTE J GRUSON N ULRICH E ADNET JJ
Citation: M. Docofenzy et al., SUPERNUMERARY MAR(15) WITHOUT PRADER-WILLI ANGELMAN-SYNDROME CRITICALREGION (PWASCR) EUCHROMATIN, MATERNAL HETERODISOMY AND PRADER-WILLI PHENOTYPE/, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 12-12
A MOLECULAR AND FISH APPROACH TO DETERMINING KARYOTYPE AND PHENOTYPE CORRELATIONS IN 6 PATIENTS WITH SUPERNUMERARY MARKER(22) CHROMOSOMES
Authors: CROLLA JA HOWARD P MITCHELL C LONG FL DENNIS NR
Citation: Ja. Crolla et al., A MOLECULAR AND FISH APPROACH TO DETERMINING KARYOTYPE AND PHENOTYPE CORRELATIONS IN 6 PATIENTS WITH SUPERNUMERARY MARKER(22) CHROMOSOMES, American journal of medical genetics, 72(4), 1997, pp. 440-447
A FISH APPROACH TO DEFINING THE EXTENT AND POSSIBLE CLINICAL-SIGNIFICANCE OF DELETIONS AT THE WAGR LOCUS
Authors: CROLLA JA CAWDERY JE OLEY CA YOUNG ID GRAY J FANTES J VANHEYNINGEN V
Citation: Ja. Crolla et al., A FISH APPROACH TO DEFINING THE EXTENT AND POSSIBLE CLINICAL-SIGNIFICANCE OF DELETIONS AT THE WAGR LOCUS, Journal of Medical Genetics, 34(3), 1997, pp. 207-212
ISOLATED SACRAL AGENESIS IN A FETUS MONOSOMIC FOR 7Q36.1-]QTER
Authors: SAVAGE NM MACLACHLAN NA JOYCE CA MOORE IE CROLLA JA
Citation: Nm. Savage et al., ISOLATED SACRAL AGENESIS IN A FETUS MONOSOMIC FOR 7Q36.1-]QTER, Journal of Medical Genetics, 34(10), 1997, pp. 866-868
IDENTIFICATION OF 2 CLASSES OF BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES CONFIRMS HOTSPOTS FOR CHROMOSOME-15 REARRANGEMENTS
Authors: HUANG B CROLLA JA CHRISTIAN SL WOLFLEDBETTER ME MACHA ME PAPENHAUSEN PN LEDBETTER DH
Citation: B. Huang et al., IDENTIFICATION OF 2 CLASSES OF BREAKPOINTS IN SMALL INV DUP(15) CHROMOSOMES CONFIRMS HOTSPOTS FOR CHROMOSOME-15 REARRANGEMENTS, Cytogenetics and cell genetics, 74(4), 1996, pp. 303-303
RAPID IN-SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUESAMPLES
Authors: FISHER AM COCKWELL AE MOORE KJ GREGSON NM CAMPBELL PL CAMPBELL CM HERBERT A BARBER JCK CROLLA JA
Citation: Am. Fisher et al., RAPID IN-SITU HARVESTING AND CYTOGENETIC ANALYSIS OF PERINATAL TISSUESAMPLES, Prenatal diagnosis, 16(7), 1996, pp. 615-621
A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-9
Authors: WILKINSON TA JAMES RS CROLLA JA COCKWELL AE CAMPBELL PL TEMPLE IK
Citation: Ta. Wilkinson et al., A CASE OF MATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-9 IN ASSOCIATION WITH CONFINED PLACENTAL MOSAICISM FOR TRISOMY-9, Prenatal diagnosis, 16(4), 1996, pp. 371-374
IMPORTANCE OF MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 AS A CAUSE OF SELECTED MALFORMATIONS OF THE VENTRICULAR OUTFLOW TRACTS AND AORTIC-ARCH - A 3-YEAR PROSPECTIVE-STUDY
Authors: WEBBER SA HATCHWELL E BARBER JCK DAUBENEY PEF CROLLA JA SALMON AP KEETON BR TEMPLE IK DENNIS NR
Citation: Sa. Webber et al., IMPORTANCE OF MICRODELETIONS OF CHROMOSOMAL REGION 22Q11 AS A CAUSE OF SELECTED MALFORMATIONS OF THE VENTRICULAR OUTFLOW TRACTS AND AORTIC-ARCH - A 3-YEAR PROSPECTIVE-STUDY, The Journal of pediatrics, 129(1), 1996, pp. 26-32
CLINICAL OUTCOMES OF ADJACENT-1 SEGREGATION IN A FAMILIAL TRANSLOCATION T(8-18)(P21.3-P11.23)
Authors: COCKWELL AE JAMES RS MOORE IE HATCHWELL E CROLLA JA
Citation: Ae. Cockwell et al., CLINICAL OUTCOMES OF ADJACENT-1 SEGREGATION IN A FAMILIAL TRANSLOCATION T(8-18)(P21.3-P11.23), Journal of Medical Genetics, 33(6), 1996, pp. 515-517
X INACTIVATION ANALYSIS IN A FEMALE WITH HYPOMELANOSIS OF ITO ASSOCIATED WITH A BALANCED X-17 TRANSLOCATION - EVIDENCE FOR FUNCTIONAL DISOMY OF XP
Authors: HATCHWELL E ROBINSON D CROLLA JA COCKWELL AE
Citation: E. Hatchwell et al., X INACTIVATION ANALYSIS IN A FEMALE WITH HYPOMELANOSIS OF ITO ASSOCIATED WITH A BALANCED X-17 TRANSLOCATION - EVIDENCE FOR FUNCTIONAL DISOMY OF XP, Journal of Medical Genetics, 33(3), 1996, pp. 216-220
FISH STUDIES IN A PATIENT WITH SPORADIC ANIRIDIA AND T(7-11)(Q31.2-P13)
Authors: CROLLA JA CROSS I ATKEY N WRIGHT M OLEY CA
Citation: Ja. Crolla et al., FISH STUDIES IN A PATIENT WITH SPORADIC ANIRIDIA AND T(7-11)(Q31.2-P13), Journal of Medical Genetics, 33(1), 1996, pp. 66-68
CYTOGENETICS 40 YEARS ON
Authors: CROLLA JA
Citation: Ja. Crolla, CYTOGENETICS 40 YEARS ON, Journal of Clinical Pathology, 49(8), 1996, pp. 619-619
AN IMPRINTED GENE(S) FOR DIABETES
Authors: TEMPLE IK JAMES RS CROLLA JA SITCH FL JACOBS PA HOWELL WM BETTS P BAUM JD SHIELD JPH
Citation: Ik. Temple et al., AN IMPRINTED GENE(S) FOR DIABETES, Nature genetics, 9(2), 1995, pp. 110-112
A SEARCH FOR UNIPARENTAL DISOMY IN CARRIERS OF SUPERNUMERARY MARKER CHROMOSOMES
Authors: JAMES RS TEMPLE IK DENNIS NR CROLLA JA
Citation: Rs. James et al., A SEARCH FOR UNIPARENTAL DISOMY IN CARRIERS OF SUPERNUMERARY MARKER CHROMOSOMES, European journal of human genetics, 3(1), 1995, pp. 21-26
SUPERNUMERARY MARKER-15 CHROMOSOMES - A CLINICAL, MOLECULAR AND FISH APPROACH TO DIAGNOSIS AND PROGNOSIS
Authors: CROLLA JA HARVEY JF SITCH FL DENNIS NR
Citation: Ja. Crolla et al., SUPERNUMERARY MARKER-15 CHROMOSOMES - A CLINICAL, MOLECULAR AND FISH APPROACH TO DIAGNOSIS AND PROGNOSIS, Human genetics, 95(2), 1995, pp. 161-170
FLUORESCENCE IN-SITU HYBRIDIZATION STUDIES PROVIDE EVIDENCE FOR SOMATIC MOSAICISM IN DE-NOVO DYSTROPHIN GENE DELETIONS
Authors: BUNYAN DJ CROLLA JA COLLINS AL ROBINSON DO
Citation: Dj. Bunyan et al., FLUORESCENCE IN-SITU HYBRIDIZATION STUDIES PROVIDE EVIDENCE FOR SOMATIC MOSAICISM IN DE-NOVO DYSTROPHIN GENE DELETIONS, Human genetics, 95(1), 1995, pp. 43-45
FURTHER CASE OF TRISOMY-18 MOSAICISM WITH A MILD PHENOTYPE
Authors: COLLINS AL FISHER J CROLLA JA COCKWELL AE
Citation: Al. Collins et al., FURTHER CASE OF TRISOMY-18 MOSAICISM WITH A MILD PHENOTYPE, American journal of medical genetics, 56(1), 1995, pp. 121-122
UNUSUAL (CGG)(N) EXPANSION AND RECOMBINATION IN A FAMILY WITH FRAGILE-X AND DIGEORGE-SYNDROME
Authors: MACPHERSON JN CURTIS G CROLLA JA DENNIS N MIGEON B GREWAL PK HIRST MC DAVIES KE JACOBS PA
Citation: Jn. Macpherson et al., UNUSUAL (CGG)(N) EXPANSION AND RECOMBINATION IN A FAMILY WITH FRAGILE-X AND DIGEORGE-SYNDROME, Journal of Medical Genetics, 32(3), 1995, pp. 236-239
MOLECULAR AND FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) STUDIES OF SUPERNUMERARY MARKER-15 CHROMOSOMES
Authors: CROLLA JA SITCH FL HARVEY JF DENNIS NR
Citation: Ja. Crolla et al., MOLECULAR AND FLUORESCENCE IN-SITU HYBRIDIZATION (FISH) STUDIES OF SUPERNUMERARY MARKER-15 CHROMOSOMES, Journal of Medical Genetics, 32(2), 1995, pp. 138-138
A FAMILIAL XP+CHROMOSOME, DUP (XQ26.3-]QTER)
Authors: VASQUEZ AI RIVERA H BOBADILLA L CROLLA JA
Citation: Ai. Vasquez et al., A FAMILIAL XP+CHROMOSOME, DUP (XQ26.3-]QTER), Journal of Medical Genetics, 32(11), 1995, pp. 891-893
Risultati: 1-25 | 26-35