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Results: 1-19 |
Results: 19
ACTIVATING SMOOTHENED MUTATIONS IN SPORADIC BASAL-CELL CARCINOMA
Authors: XIE JW MURONE M LUOH SM RYAN A GU QM ZHANG CH BONIFAS JM LAM CW HYNES M GODDARD A ROSENTHAL A EPSTEIN EH DESAUVAGE FJ
Citation: Jw. Xie et al., ACTIVATING SMOOTHENED MUTATIONS IN SPORADIC BASAL-CELL CARCINOMA, Nature, 391(6662), 1998, pp. 90-92
IDENTIFICATION OF MUTATIONS IN THE HUMAN PATCHED GENE IN SPORADIC BASAL-CELL CARCINOMAS AND IN PATIENTS WITH THE BASAL-CELL NEVUS SYNDROME
Authors: ASZTERBAUM M ROTHMAN A JOHNSON RL FISHER M XIE JW BONIFAS JM ZHANG XL SCOTT MP EPSTEIN EH
Citation: M. Aszterbaum et al., IDENTIFICATION OF MUTATIONS IN THE HUMAN PATCHED GENE IN SPORADIC BASAL-CELL CARCINOMAS AND IN PATIENTS WITH THE BASAL-CELL NEVUS SYNDROME, Journal of investigative dermatology, 110(6), 1998, pp. 885-888
CLONING OF MULTIPLE K16 GENES AND GENOTYPE-PHENOTYPE CORRELATION IN PACHYONYCHIA-CONGENITA TYPE-I AND FOCAL PPK
Authors: SMITH FJD STEIJLEN PM MCKENNA K HEALY E REES JL FISHER MP BONIFAS JM EPSTEIN EH MCKUSICK VA TAN E UITTO J MCLEAN WHI
Citation: Fjd. Smith et al., CLONING OF MULTIPLE K16 GENES AND GENOTYPE-PHENOTYPE CORRELATION IN PACHYONYCHIA-CONGENITA TYPE-I AND FOCAL PPK, Journal of investigative dermatology, 110(4), 1998, pp. 502-502
BASAL-CELL CARCINOMAS IN MICE OVEREXPRESSING SONIC HEDGEHOG
Authors: ORO AE HIGGINS KM HU ZL BONIFAS JM EPSTEIN EH SCOTT MP
Citation: Ae. Oro et al., BASAL-CELL CARCINOMAS IN MICE OVEREXPRESSING SONIC HEDGEHOG, Science, 276(5313), 1997, pp. 817-821
PARTIAL DOMINANCE OF A KERATIN-14 MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX - INCREASED SEVERITY OF DISEASE IN A HOMOZYGOTE
Authors: HU ZL SMITH L MARTINS S BONIFAS JM CHEN H EPSTEIN EH
Citation: Zl. Hu et al., PARTIAL DOMINANCE OF A KERATIN-14 MUTATION IN EPIDERMOLYSIS-BULLOSA SIMPLEX - INCREASED SEVERITY OF DISEASE IN A HOMOZYGOTE, Journal of investigative dermatology, 109(3), 1997, pp. 360-364
HEDGEHOG SIGNALING PATHWAY - ACTIVATION IN DIVERSE CANCERS BY MUTATIONS IN DIVERSE GENES
Authors: ASZTERBAUM M HU ZL XIE JW BONIFAS JM FISHER M EPSTEIN EH
Citation: M. Aszterbaum et al., HEDGEHOG SIGNALING PATHWAY - ACTIVATION IN DIVERSE CANCERS BY MUTATIONS IN DIVERSE GENES, Journal of investigative dermatology, 108(4), 1997, pp. 43-43
MISSENSE OR IN-FRAME DELETION MUTATIONS IN HUMAN KERATIN-16 CAN CAUSEVARIABLE PHENOTYPES OF PACHYONYCHIA AND OR PALMOPLANTAR KERATODERMA/
Authors: SMITH FJD FISHER MP HEALY E REES JL MCKUSICK VA BONIFAS JM EPSTEIN EH UITTO J MCLEAN WHI
Citation: Fjd. Smith et al., MISSENSE OR IN-FRAME DELETION MUTATIONS IN HUMAN KERATIN-16 CAN CAUSEVARIABLE PHENOTYPES OF PACHYONYCHIA AND OR PALMOPLANTAR KERATODERMA/, American journal of human genetics, 61(4), 1997, pp. 2032-2032
INCREASED SEVERITY OF AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX IN A PATIENT HOMOZYGOUS FOR A KERATIN-14 MUTATION
Authors: HU ZI BONIFAS JM MARTINS S CHEN H EPSTEIN EH
Citation: Zi. Hu et al., INCREASED SEVERITY OF AUTOSOMAL-DOMINANT EPIDERMOLYSIS-BULLOSA SIMPLEX IN A PATIENT HOMOZYGOUS FOR A KERATIN-14 MUTATION, Journal of investigative dermatology, 106(4), 1996, pp. 224-224
NARROWING OF THE HAILEY-HAILEY DISEASE GENE REGION ON CHROMOSOME 3Q AND IDENTIFICATION OF ONE KINDRED WITH A DELETION IN THIS REGION
Authors: PELUSO AM BONIFAS JM IKEDA S HU ZL DEVRIES S WALDMAN F BADURA M OCONNELL P DAMEN L EPSTEIN E FRANZBLAU M HERMAN P LESSIN S SWERLICK R TRASK D EPSTEIN E
Citation: Am. Peluso et al., NARROWING OF THE HAILEY-HAILEY DISEASE GENE REGION ON CHROMOSOME 3Q AND IDENTIFICATION OF ONE KINDRED WITH A DELETION IN THIS REGION, Genomics, 30(1), 1995, pp. 77-80
KERATIN-14 GENE-MUTATIONS IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: CHEN H BONIFAS JM MATSUMURA K IKEDA S LEYDEN WA EPSTEIN EH
Citation: H. Chen et al., KERATIN-14 GENE-MUTATIONS IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX, Journal of investigative dermatology, 105(4), 1995, pp. 629-632
EVIDENCE FOR CONSTITUTIONAL MUTATIONS IN PATIENTS WITH MULTIPLE BCCS
Authors: BONIFAS JM KERSCHMANN RL SNYDER RA LEYDEN WA EPSTEIN EH
Citation: Jm. Bonifas et al., EVIDENCE FOR CONSTITUTIONAL MUTATIONS IN PATIENTS WITH MULTIPLE BCCS, Journal of investigative dermatology, 104(4), 1995, pp. 574-574
PARENTAL ORIGIN OF CHROMOSOME 9Q22.3-Q31 LOST IN BASAL-CELL CARCINOMAS FROM BASAL-CELL NEVUS SYNDROME PATIENTS
Authors: BONIFAS JM BARE JW KERSCHMANN RL MASTER SP EPSTEIN EH
Citation: Jm. Bonifas et al., PARENTAL ORIGIN OF CHROMOSOME 9Q22.3-Q31 LOST IN BASAL-CELL CARCINOMAS FROM BASAL-CELL NEVUS SYNDROME PATIENTS, Human molecular genetics, 3(3), 1994, pp. 447-448
MUTATIONS OF KERATIN-9 IN 2 FAMILIES WITH PALMOPLANTAR EPIDERMOLYTIC HYPERKERATOSIS
Authors: BONIFAS JM MATSUMURA K CHEN MA BERTHJONES J HUTCHINSON PE ZLOCZOWER M FRITSCH PO EPSTEIN EH
Citation: Jm. Bonifas et al., MUTATIONS OF KERATIN-9 IN 2 FAMILIES WITH PALMOPLANTAR EPIDERMOLYTIC HYPERKERATOSIS, Journal of investigative dermatology, 103(4), 1994, pp. 474-477
HAILEY-HAILEY DISEASE IS NOT ALLELIC TO DARIERS-DISEASE
Authors: WELSH EA IKEDA S PELUSO AM BONIFAS JM BARE JW WOODLEY DT EPSTEIN EH
Citation: Ea. Welsh et al., HAILEY-HAILEY DISEASE IS NOT ALLELIC TO DARIERS-DISEASE, Journal of investigative dermatology, 102(6), 1994, pp. 992-993
EXCLUSION OF CANDIDATE GENES IN HAILEY-HAILEY DISEASE HAILEY-HAILEY DISEASE IS NOT ALLELIC TO DARIERS-DISEASE
Authors: WELSH EA IKEDA S PELUSO AM BONIFAS JM BARE JW WOODLEY DT EPSTEIN EH
Citation: Ea. Welsh et al., EXCLUSION OF CANDIDATE GENES IN HAILEY-HAILEY DISEASE HAILEY-HAILEY DISEASE IS NOT ALLELIC TO DARIERS-DISEASE, Journal of investigative dermatology, 102(4), 1994, pp. 610-610
KERATIN-14 MUTATIONS IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX
Authors: CHEN H BONIFAS JM EPSTEIN EH
Citation: H. Chen et al., KERATIN-14 MUTATIONS IN PATIENTS WITH EPIDERMOLYSIS-BULLOSA SIMPLEX, Clinical research, 42(1), 1994, pp. 10000012-10000012
A NOVEL 3-NUCLEOTIDE DELETION IN THE HELIX 2B REGION OF KERATIN-14 INEPIDERMOLYSIS-BULLOSA SIMPLEX - DELTA-E375
Authors: CHEN MA BONIFAS JM MATSUMURA K BLUMENFELD A EPSTEIN EH
Citation: Ma. Chen et al., A NOVEL 3-NUCLEOTIDE DELETION IN THE HELIX 2B REGION OF KERATIN-14 INEPIDERMOLYSIS-BULLOSA SIMPLEX - DELTA-E375, Human molecular genetics, 2(11), 1993, pp. 1971-1972
EVIDENCE AGAINST KERATIN GENE-MUTATIONS IN A FAMILY WITH ICHTHYOSIS HYSTRIX CURTH-MACKLIN
Authors: BONIFAS JM BARE JW CHEN MA RANKI A NEIMI KM EPSTEIN EH
Citation: Jm. Bonifas et al., EVIDENCE AGAINST KERATIN GENE-MUTATIONS IN A FAMILY WITH ICHTHYOSIS HYSTRIX CURTH-MACKLIN, Journal of investigative dermatology, 101(6), 1993, pp. 890-891
LOSS OF HETEROZYGOSITY AT 9Q22-Q31 IN SPORADIC MEDULLOBLASTOMAS AND MENINGIOMAS AND NON-SPORADIC BASAL-CELL CARCINOMAS
Authors: BARE JW BONIFAS JM MASTER SP KERSCHMANN RL DANESHVAR L COGAN PH MENON AG EPSTEIN E
Citation: Jw. Bare et al., LOSS OF HETEROZYGOSITY AT 9Q22-Q31 IN SPORADIC MEDULLOBLASTOMAS AND MENINGIOMAS AND NON-SPORADIC BASAL-CELL CARCINOMAS, American journal of human genetics, 53(3), 1993, pp. 274-274
Risultati: 1-19 |