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Results: 1-25 | 26-50 | 51-71
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HUMAN DEVELOPMENTAL DISORDERS AND THE SONIC HEDGEHOG PATHWAY
Authors: MING JE ROESSLER E MUENKE M
Citation: Je. Ming et al., HUMAN DEVELOPMENTAL DISORDERS AND THE SONIC HEDGEHOG PATHWAY, Molecular medicine today, 4(8), 1998, pp. 343-349
ANALYSIS OF PATIENTS WITH CRANIOSYNOSTOSIS SYNDROMES FOR A PRO246ARG MUTATION IN FGFR4
Authors: GAUDENZ K ROESSLER E VAINIKKA S ALITALO K MUENKE M
Citation: K. Gaudenz et al., ANALYSIS OF PATIENTS WITH CRANIOSYNOSTOSIS SYNDROMES FOR A PRO246ARG MUTATION IN FGFR4, MOLECULAR GENETICS AND METABOLISM, 64(1), 1998, pp. 76-79
HOLOPROSENCEPHALY DUE TO MUTATIONS IN ZIC2, A HOMOLOG OF DROSOPHILA ODD-PAIRED
Authors: BROWN SA WARBURTON D BROWN LY YU CY ROEDER ER STENGELRUTKOWSKI S HENNEKAM RCM MUENKE M
Citation: Sa. Brown et al., HOLOPROSENCEPHALY DUE TO MUTATIONS IN ZIC2, A HOMOLOG OF DROSOPHILA ODD-PAIRED, Nature genetics, 20(2), 1998, pp. 180-183
CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA)
Authors: BELLONI E VERDERIO D ROMMENS JM HUIZENGA J SHI XM SIEGELBARTELT J ROESSLER E MUENKE M FERRARI M TSUI LC SCHERER SW
Citation: E. Belloni et al., CHARACTERIZATION OF DEVELOPMENTAL PATHOLOGIES AT 7Q36 - HOLOPROSENCEPHALY (HPE) AND SACRAL AGENESIS (SA), European journal of human genetics, 6, 1998, pp. 4025-4025
STRUCTURE OF THE HUMAN LANOSTEROL SYNTHASE GENE AND ITS ANALYSIS AS ACANDIDATE FOR HOLOPROSENCEPHALY
Authors: MITTAZ L ROESSLER E SCOTT HS ROSSIER C GUIPPONI M ANTONARAKIS SE MUENKE M
Citation: L. Mittaz et al., STRUCTURE OF THE HUMAN LANOSTEROL SYNTHASE GENE AND ITS ANALYSIS AS ACANDIDATE FOR HOLOPROSENCEPHALY, European journal of human genetics, 6, 1998, pp. 4246-4246
ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY
Authors: VARGAS FR ROESSLER E GAUDENZ K BELLONI E WHITEHEAD AS KIRKE PN MILLS JL HOOPER G STEVENSON RE CORDEIRO I CORREIA P FELIX T GEREIGE R CUNNINGHAM ML CANUN S ANTONARAKIS SE STRACHAN T TSUI LC SCHERER SW MUENKE M
Citation: Fr. Vargas et al., ANALYSIS OF THE HUMAN SONIC-HEDGEHOG CODING AND PROMOTER REGIONS IN SACRAL AGENESIS, TRIPHALANGEAL THUMB, AND MIRROR POLYDACTYLY, Human genetics, 102(4), 1998, pp. 387-392
IMAGING STUDIES IN A UNIQUE FAMILIAL DYSMYELINATING DISORDER
Authors: GRIPP KW ZIMMERMAN RA WANG ZJ RORKE LB DUHAIME AC SCHUT L MOLLOY PT TUCKER SH ZACKAI EH MUENKE M
Citation: Kw. Gripp et al., IMAGING STUDIES IN A UNIQUE FAMILIAL DYSMYELINATING DISORDER, American journal of neuroradiology, 19(7), 1998, pp. 1368-1372
PHENOTYPE OF THE FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 SER351CYS MUTATION - PFEIFFER-SYNDROME TYPE-III
Authors: GRIPP KW STOLLE CA MCDONALDMCGINN DM MARKOWITZ RI BARTLETT SP KATOWITZ JA MUENKE M ZACKAI EH
Citation: Kw. Gripp et al., PHENOTYPE OF THE FIBROBLAST-GROWTH-FACTOR RECEPTOR-2 SER351CYS MUTATION - PFEIFFER-SYNDROME TYPE-III, American journal of medical genetics, 78(4), 1998, pp. 356-360
HOLOPROSENCEPHALY - A PARADIGM FOR THE COMPLEX GENETICS OF BRAIN-DEVELOPMENT
Authors: ROESSLER E MUENKE M
Citation: E. Roessler et M. Muenke, HOLOPROSENCEPHALY - A PARADIGM FOR THE COMPLEX GENETICS OF BRAIN-DEVELOPMENT, Journal of inherited metabolic disease, 21(5), 1998, pp. 481-497
IDENTIFICATION OF A GENETIC CAUSE FOR ISOLATED UNILATERAL CORONAL SYNOSTOSIS - A UNIQUE MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3
Authors: GRIPP KW MCDONALDMCGINN D GAUDENZ K WHITAKER LA BARTLETT SP GLAT PM CASSILETH LB MAYRO R ZACKAI EH MUENKE M
Citation: Kw. Gripp et al., IDENTIFICATION OF A GENETIC CAUSE FOR ISOLATED UNILATERAL CORONAL SYNOSTOSIS - A UNIQUE MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3, The Journal of pediatrics, 132(4), 1998, pp. 714-716
HOLOPROSENCEPHALY - FROM HOMER TO HEDGEHOG
Authors: MING JE MUENKE M
Citation: Je. Ming et M. Muenke, HOLOPROSENCEPHALY - FROM HOMER TO HEDGEHOG, Clinical genetics, 53(3), 1998, pp. 155-163
OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN (VOL 63, PG 703, 1998)/
Authors: GAUDENZ K ROESSLER E QUADERI N FRANCO B FELDMAN G GASSER DL WITTWER B HORST J MONTINI E OPITZ JM BALLABIO A MUENKE M
Citation: K. Gaudenz et al., OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN (VOL 63, PG 703, 1998)/, American journal of human genetics, 63(5), 1998, pp. 1571-1571
OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN/
Authors: GAUDENZ K ROESSLER E QUADERI N FRANCO B FELDMAN G GASSER DL WITTWER B MONTINI E OPITZ JM BALLABIO A MUENKE M
Citation: K. Gaudenz et al., OPITZ G BBB SYNDROME IN XP22 - MUTATIONS IN THE MID1 GENE-CLUSTER IN THE CARBOXY-TERMINAL DOMAIN/, American journal of human genetics, 63(3), 1998, pp. 703-710
OPITZ G BBB SYNDROME, A DEFECT OF MIDLINE DEVELOPMENT, IS DUE TO MUTATIONS IN A NEW RING FINGER GENE ON XP22/
Authors: QUADERI NA SCHWEIGER S GAUDENZ K FRANCO B RUGARLI EI BERGER W FELDMAN GJ VOLTA M ANDOLFI G GILGENKRANTZ S MARION RW HENNEKAM RCM OPITZ JM MUENKE M ROPERS HH BALLABIO A
Citation: Na. Quaderi et al., OPITZ G BBB SYNDROME, A DEFECT OF MIDLINE DEVELOPMENT, IS DUE TO MUTATIONS IN A NEW RING FINGER GENE ON XP22/, Nature genetics, 17(3), 1997, pp. 285-291
MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E BELLONI E GAUDENZ K VARGAS F SCHERER SW TSUI LC MUENKE M
Citation: E. Roessler et al., MUTATIONS IN THE C-TERMINAL DOMAIN OF SONIC HEDGEHOG CAUSE HOLOPROSENCEPHALY, Human molecular genetics, 6(11), 1997, pp. 1847-1853
A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22
Authors: FELDMAN GJ WARD DE LAJEUNIERENIER E SAAVEDRA D ROBIN NH PROUD V ROBB LJ KALOUSTIAN VD CAREY JC COHEN MM CORMIER V MUNNICH A ZACKAI EH WILKIE AOM PRICE RA MUENKE M
Citation: Gj. Feldman et al., A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22, Human molecular genetics, 6(11), 1997, pp. 1937-1941
GENOTYPE-PHENOTYPE CORRELATION FOR NUCLEOTIDE SUBSTITUTIONS IN THE IGII-IGIII LINKER OF FGFR2
Authors: OLDRIDGE M LUNT PW ZACKAI EH MCDONALDMCGINN DM MUENKE M MOLONEY DM TWIGG SRF HEATH JK HOWARD TD HOGANSON G GAGNON DM JABS EW WILKIE AOM
Citation: M. Oldridge et al., GENOTYPE-PHENOTYPE CORRELATION FOR NUCLEOTIDE SUBSTITUTIONS IN THE IGII-IGIII LINKER OF FGFR2, Human molecular genetics, 6(1), 1997, pp. 137-143
CYTOGENETIC REARRANGEMENTS INVOLVING THE LOSS OF THE SONIC-HEDGEHOG GENE AT 7Q36 CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E WARD DE GAUDENZ K BELLONI E SCHERER SW DONNAI D SIEGELBARTELT J TSUI LC MUENKE M
Citation: E. Roessler et al., CYTOGENETIC REARRANGEMENTS INVOLVING THE LOSS OF THE SONIC-HEDGEHOG GENE AT 7Q36 CAUSE HOLOPROSENCEPHALY, Human genetics, 100(2), 1997, pp. 172-181
GENOMIC STRUCTURE, SEQUENCE, AND MAPPING OF HUMAN FGF8 WITH NO EVIDENCE FOR ITS ROLE IN CRANIOSYNOSTOSIS LIMB DEFECT SYNDROMES
Authors: YOSHIURA K LEYSENS NJ CHANG J WARD D MURRAY JC MUENKE M
Citation: K. Yoshiura et al., GENOMIC STRUCTURE, SEQUENCE, AND MAPPING OF HUMAN FGF8 WITH NO EVIDENCE FOR ITS ROLE IN CRANIOSYNOSTOSIS LIMB DEFECT SYNDROMES, American journal of medical genetics, 72(3), 1997, pp. 354-362
CLINICAL AND MOLECULAR ANALYSIS IN JOUBERT-SYNDROME
Authors: PELLEGRINO JE LENSCH MW MUENKE M CHANCE PF
Citation: Je. Pellegrino et al., CLINICAL AND MOLECULAR ANALYSIS IN JOUBERT-SYNDROME, American journal of medical genetics, 72(1), 1997, pp. 59-62
PREVALENCE OF PRO250ARG MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN CORONAL CRANIOSYNOSTOSIS
Authors: MOLONEY DM WALL SA ASHWORTH GJ OLDRIDGE M GLASS IA FRANCOMANO CA MUENKE M WILKIE AOM
Citation: Dm. Moloney et al., PREVALENCE OF PRO250ARG MUTATION OF FIBROBLAST GROWTH-FACTOR RECEPTOR-3 IN CORONAL CRANIOSYNOSTOSIS, Lancet, 349(9058), 1997, pp. 1059-1062
NOVEL X-LINKED INHERITANCE PATTERN IN CRANIOFRONTONASAL SYNDROME
Authors: FELDMAN GJ WARD DE ROBIN NH ARONSON AL ZACKAI UH SAAVEDRA D PROUD V ROBB LJ KALOUSTIAN V JABS E CAREY JC MUNNICH A COHEN MM PRICE RA MUENKE M
Citation: Gj. Feldman et al., NOVEL X-LINKED INHERITANCE PATTERN IN CRANIOFRONTONASAL SYNDROME, Journal of dental research, 76, 1997, pp. 3073-3073
MUTATIONAL AND FUNCTIONAL-STUDIES OF THE HUMAN SONIC HEDGEHOG GENE ASA CAUSE FOR HOLOPROSENCEPHALY
Authors: ROESSLER E GAUDENZ K VARGAS F BELLONI E SCHERER SW TSUI LC RAO L GOLDEN J MUENKE M
Citation: E. Roessler et al., MUTATIONAL AND FUNCTIONAL-STUDIES OF THE HUMAN SONIC HEDGEHOG GENE ASA CAUSE FOR HOLOPROSENCEPHALY, American journal of human genetics, 61(4), 1997, pp. 87-87
A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22
Authors: MUENKE M FELDMAN GJ WARD DE LAJEUNIERENIER E SAAVEDRA D ROBIN NH PROUD V ROBB LJ KALOUSTIAN VD CAREY JC COHEN MM CORMIER V MUNNICH A ZACKAI EH WILKIE AOM PRICE RA
Citation: M. Muenke et al., A NOVEL PHENOTYPIC PATTERN IN X-LINKED INHERITANCE - CRANIOFRONTONASAL SYNDROME MAPS TO XP22, American journal of human genetics, 61(4), 1997, pp. 255-255
IDENTIFICATION OF THE FIRST GENETIC CAUSE FOR ISOLATED ANTERIOR SYNOSTOTIC PLAGIOCEPHALY - A UNIQUE MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3
Authors: GRIPP KW MCDONALDMCGINN DM WHITAKER LA BARTLETT SP ZACKAI EH MUENKE M
Citation: Kw. Gripp et al., IDENTIFICATION OF THE FIRST GENETIC CAUSE FOR ISOLATED ANTERIOR SYNOSTOTIC PLAGIOCEPHALY - A UNIQUE MUTATION IN THE FIBROBLAST GROWTH-FACTOR RECEPTOR-3, American journal of human genetics, 61(4), 1997, pp. 257-257
Risultati: 1-25 | 26-50 | 51-71