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Results:
1-24
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Results: 24
Authors:
HATCHWELL E
LONG F
WILDE J
CROLLA J
TEMPLE K
Citation: E. Hatchwell et al., MOLECULAR CONFIRMATION OF GERM-LINE MOSAICISM FOR A SUBMICROSCOPIC DELETION OF CHROMOSOME 22Q11, American journal of medical genetics, 78(2), 1998, pp. 103-106
Authors:
BLACK GCM
PERVEEN R
HATCHWELL E
RECK A
CLAYTONSMITH J
Citation: Gcm. Black et al., LOCUS HETEROGENEITY IN AUTOSOMAL-DOMINANT CONGENITAL EXTERNAL OPHTHALMOPLEGIA (CFEOM), Journal of Medical Genetics, 35(12), 1998, pp. 985-988
Authors:
RECK AC
MANNERS R
HATCHWELL E
Citation: Ac. Reck et al., PHENOTYPIC HETEROGENEITY MAY OCCUR IN CONGENITAL FIBROSIS OF THE EXTRAOCULAR-MUSCLES, British journal of ophthalmology, 82(6), 1998, pp. 676-679
Authors:
BATRA RS
HATCHWELL E
RIDER S
BROWN R
BROWN GK
CRAIG IW
Citation: Rs. Batra et al., LOCALIZATION OF HUMAN LIVER 6-PHOSPHOFRUCTO-2-KINASE FRUCTOSE-2,6-BISPHOSPHATASE (PFKFB1) WITHIN A YAC CONTIG IN XP11.21/, Genomics, 40(2), 1997, pp. 358-361
Authors:
HATCHWELL E
Citation: E. Hatchwell, SHPRINTZEN-GOLDBERG SYNDROME RESULTS FROM MUTATIONS IN FIBRILLIN-I, NOT MONOSOMY 22Q11, The Journal of pediatrics, 131(1), 1997, pp. 164-164
Authors:
POWER MM
JAMES RS
BARBER JCK
FISHER AM
WOOD PJ
LEATHERDALE BA
FLANAGAN DEH
HATCHWELL E
Citation: Mm. Power et al., RDCI, THE VASOACTIVE-INTESTINAL-PEPTIDE RECEPTOR - A CANDIDATE GENE FOR THE FEATURES OF ALBRIGHT HEREDITARY OSTEODYSTROPHY ASSOCIATED WITH DELETION OF 2Q37, Journal of Medical Genetics, 34(4), 1997, pp. 287-290
Authors:
RYAN AK
GOODSHIP JA
WILSON DI
PHILIP N
LEVY A
SEIDEL H
SCHUFFENHAUER S
OECHSLER H
BELOHRADSKY B
PRIEUR M
AURIAS A
RAYMOND FL
CLAYTONSMITH J
HATCHWELL E
MCKEOWN C
BEEMER FA
DALLAPICCOLA B
NOVELLI G
HURST JA
IGNATIUS J
GREEN AJ
WINTER RM
BRUETON L
BRONDUMNIELSEN K
STEWART F
VANESSEN T
PATTON M
PATERSON J
SCAMBLER PJ
Citation: Ak. Ryan et al., SPECTRUM OF CLINICAL-FEATURES ASSOCIATED WITH INTERSTITIAL CHROMOSOME22Q11 DELETIONS - A EUROPEAN COLLABORATIVE STUDY, Journal of Medical Genetics, 34(10), 1997, pp. 798-804
Authors:
COPPIN B
MOORE I
HATCHWELL E
Citation: B. Coppin et al., EXTENDING THE OVERLAP OF 3 CONGENITAL OVERGROWTH SYNDROMES, Clinical genetics, 51(6), 1997, pp. 375-378
Authors:
HATCHWELL E
Citation: E. Hatchwell, IMPROVING PCR SPECIFICITY BY MULTIPLE PREDIGESTION, Trends in genetics, 12(11), 1996, pp. 460-460
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
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
Authors:
HATCHWELL E
DENNIS N
Citation: E. Hatchwell et N. Dennis, MIRROR HANDS AND FEET - A FURTHER CASE OF LAURIN-SANDROW SYNDROME, Journal of Medical Genetics, 33(5), 1996, pp. 426-428
Authors:
HATCHWELL E
Citation: E. Hatchwell, UNSTABLE MUTATION IN INCONTINENTIA PIGMENTI, Journal of Medical Genetics, 33(4), 1996, pp. 349-350
Authors:
HATCHWELL E
Citation: E. Hatchwell, HYPOMELANOSIS OF ITO AND X-AUTOSOME TRANSLOCATIONS - A UNIFYING HYPOTHESIS, Journal of Medical Genetics, 33(3), 1996, pp. 177-183
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
Authors:
HATCHWELL E
Citation: E. Hatchwell, MONOZYGOTIC TWINS WITH CHROMOSOME 22Q11 DELETION AND DISCORDANT PHENOTYPE, Journal of Medical Genetics, 33(3), 1996, pp. 261-261
Authors:
FRANCIS PJ
HATCHWELL E
MORRIS RJ
MANNERS RM
Citation: Pj. Francis et al., MICROPHTHALMOS IN ASSOCIATION WITH GORLINS-SYNDROME (VOL 80, PG 378, 1996), British journal of ophthalmology, 80(7), 1996, pp. 679-679
Authors:
MANNERS RM
MORRIS RJ
FRANCIS PJ
HATCHWELL E
Citation: Rm. Manners et al., MICROPHTHALMOS IN ASSOCIATION WITH GORLINS-SYNDROME, British journal of ophthalmology, 80(4), 1996, pp. 378-378
Authors:
FISHER SE
HATCHWELL E
CHAND A
OCKENDEN N
MONACO AP
CRAIG IW
Citation: Se. Fisher et al., CONSTRUCTION OF 2 YAC CONTIGS IN HUMAN XP11.23-P11.22, ONE ENCOMPASSING THE LOCI OATL1,GATA,TFE3, AND SYP, THE OTHER LINKING DXS255 TO DXS146, Genomics, 29(2), 1995, pp. 496-502
Authors:
HATCHWELL E
CRAIG IW
Citation: E. Hatchwell et Iw. Craig, FUNCTIONAL DISOMY OF A LOCUS (LOCI) IN XP AND HYPOMELANOSIS OF ITO, Journal of Medical Genetics, 32(2), 1995, pp. 138-139
Authors:
FISHER SE
BLACK GCM
LLOYD SE
HATCHWELL E
WRONG O
THAKKER RV
CRAIG IW
Citation: Se. Fisher et al., ISOLATION AND PARTIAL CHARACTERIZATION OF A CHLORIDE CHANNEL GENE WHICH IS EXPRESSED IN KIDNEY AND IS A CANDIDATE FOR DENTS DISEASE (AN X-LINKED HEREDITARY NEPHROLITHIASIS), Human molecular genetics, 3(11), 1994, pp. 2053-2059
Authors:
REED V
RIDER S
MASLEN GL
HATCHWELL E
BLAIR HJ
UWECHUE IC
CRAIG IW
LAVAL SH
MONACO AP
BOYD Y
Citation: V. Reed et al., A 2-MB YAC CONTIG ENCOMPASSING 3 LOCI (DXF34, DXS14, AND DXS390) THATLIE BETWEEN XP11.2 TRANSLOCATION BREAKPOINTS ASSOCIATED WITH INCONTINENTIA PIGMENTI TYPE-1, Genomics, 20(3), 1994, pp. 341-346
Authors:
FISHER SE
HATCHWELL E
CHAND A
OCKENDON N
MONACO A
CRAIG I
Citation: Se. Fisher et al., YAC CONTIGS AND PHYSICAL MAPPING OF XP11.23-]P11.22, Cytogenetics and cell genetics, 67(4), 1994, pp. 335-335
Authors:
HATCHWELL E
BLACK G
CHAND A
CHEN ZY
FISHER SE
HENDRIKS RW
HINDS H
RILEY S
COLEMAN M
MONACO A
GOODFELLOW PN
CRAIG I
Citation: E. Hatchwell et al., DEVELOPMENT OF RESOURCES FOR ADVANCING PHYSICAL MAPPING OF THE XP11.4-]CEN INTERVAL, Cytogenetics and cell genetics, 64(3-4), 1993, pp. 175-175
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