AAAAAA

   
Results: 1-25 | 26-50 | 51-71
Results: 26-50/71
CHARACTERIZATION OF DEVELOPMENTAL DISORDERS MAPPING TO 7Q36
Authors: BELLONI E ROESSLER E MUENKE M ROMMENS J SHI XM HUIZENGA J FERRARI M SIEGELBARTELT J TSUI LC SCHERER SW
Citation: E. Belloni et al., CHARACTERIZATION OF DEVELOPMENTAL DISORDERS MAPPING TO 7Q36, American journal of human genetics, 61(4), 1997, pp. 1341-1341
EXCLUSION OF THE HUMAN SONIC HEDGEHOG CODING AND PROMOTER REGIONS AS A CANDIDATE GENE FOR SACRAL AGENESIS, FAMILIAL NEURAL-TUBE DEFECTS, TRIPHALANGEAL THUMB AND MIRROR POLYDACTYLY
Authors: VARGAS F ROESSLER E WHITEHEAD S HOOPER G STEVENSON RE CORDEIRO I CORREIA P SCHWARTZ I ANTONARAKIS S STRACHAN T GEREIGE R BELLONI E SCHERER S TSUI LC MUENKE M
Citation: F. Vargas et al., EXCLUSION OF THE HUMAN SONIC HEDGEHOG CODING AND PROMOTER REGIONS AS A CANDIDATE GENE FOR SACRAL AGENESIS, FAMILIAL NEURAL-TUBE DEFECTS, TRIPHALANGEAL THUMB AND MIRROR POLYDACTYLY, American journal of human genetics, 61(4), 1997, pp. 2413-2413
A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME
Authors: MUENKE M GRIPP KW MCDONALDMCGINN DM GAUDENZ K WHITAKER LA BARTLETT SP MARKOWITZ RI ROBIN NH NWOKORO N MULVIHILL JJ LOSKEN HW MULLIKEN JB GUTTMACHER AE WILROY RS CLARKE LA HOLLWAY G ADES LC HAAN EA MULLEY JC COHEN MM BELLUS GA FRANCOMANO CA MOLONEY DM WALL SA WILKIE AOM ZACKAI EH
Citation: M. Muenke et al., A UNIQUE POINT MUTATION IN THE FIBROBLAST-GROWTH-FACTOR-RECEPTOR-3 GENE (FGFR3) DEFINES A NEW CRANIOSYNOSTOSIS SYNDROME, American journal of human genetics, 60(3), 1997, pp. 555-564
IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY
Authors: BELLONI E MUENKE M ROESSLER E TRAVERSO G SIEGELBARTELT J FRUMKIN A MITCHELL HF DONISKELLER H HELMS C HING AV HENG HHQ KOOP B MARTINDALE D ROMMENS JM TSUI LC SCHERER SW
Citation: E. Belloni et al., IDENTIFICATION OF SONIC HEDGEHOG AS A CANDIDATE GENE RESPONSIBLE FOR HOLOPROSENCEPHALY, Nature genetics, 14(3), 1996, pp. 353-356
MUTATIONS IN THE HUMAN SONIC HEDGEHOG GENE CAUSE HOLOPROSENCEPHALY
Authors: ROESSLER E BELLONI E GAUDENZ K JAY P BERTA P SCHERER SW TSUI LC MUENKE M
Citation: E. Roessler et al., MUTATIONS IN THE HUMAN SONIC HEDGEHOG GENE CAUSE HOLOPROSENCEPHALY, Nature genetics, 14(3), 1996, pp. 357-360
IDENTICAL MUTATIONS IN 3 DIFFERENT FIBROBLAST GROWTH-FACTOR RECEPTOR GENES IN AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS SYNDROMES
Authors: BELLUS GA GAUDENZ K ZACKAI EH CLARKE LA SZABO J FRANCOMANO CA MUENKE M
Citation: Ga. Bellus et al., IDENTICAL MUTATIONS IN 3 DIFFERENT FIBROBLAST GROWTH-FACTOR RECEPTOR GENES IN AUTOSOMAL-DOMINANT CRANIOSYNOSTOSIS SYNDROMES, Nature genetics, 14(2), 1996, pp. 174-176
MOLECULAR CHARACTERIZATION OF BREAKPOINTS IN PATIENTS WITH HOLOPROSENCEPHALY AND DEFINITION OF THE HPE2 CRITICAL REGION 2P21
Authors: SCHELL U WIENBERG J KOHLER A BRAYWARD P WARD DE WILSON WG ALLEN WP LEBEL RR SAWYER JR CAMPBELL PL AUGHTON DJ PUNNETT HH LAMMER EJ KAO FT WARD DC MUENKE M
Citation: U. Schell et al., MOLECULAR CHARACTERIZATION OF BREAKPOINTS IN PATIENTS WITH HOLOPROSENCEPHALY AND DEFINITION OF THE HPE2 CRITICAL REGION 2P21, Human molecular genetics, 5(2), 1996, pp. 223-229
HUMAN ENTERIC DEFENSIN GENES - CHROMOSOMAL MAP POSITION AND A MODEL FOR POSSIBLE EVOLUTIONARY RELATIONSHIPS
Authors: BEVINS CL JONES DE DUTRA A SCHAFFZIN J MUENKE M
Citation: Cl. Bevins et al., HUMAN ENTERIC DEFENSIN GENES - CHROMOSOMAL MAP POSITION AND A MODEL FOR POSSIBLE EVOLUTIONARY RELATIONSHIPS, Genomics, 31(1), 1996, pp. 95-106
HOLOPROSENCEPHALY IN RSH SMITH-LEMLI-OPITZ-SYNDROME - DOES ABNORMAL CHOLESTEROL-METABOLISM AFFECT THE FUNCTION OF SONIC-HEDGEHOG/
Authors: KELLEY RI ROESSLER E HENNEKAM RCM FELDMAN GI KOSAKI K JONES MC PALUMBOS JC MUENKE M
Citation: Ri. Kelley et al., HOLOPROSENCEPHALY IN RSH SMITH-LEMLI-OPITZ-SYNDROME - DOES ABNORMAL CHOLESTEROL-METABOLISM AFFECT THE FUNCTION OF SONIC-HEDGEHOG/, American journal of medical genetics, 66(4), 1996, pp. 478-484
SUBBAND DELETION OF 7Q36.3 IN A PATIENT WITH RING CHROMOSOME-7 - ASSOCIATION WITH HOLOPROSENCEPHALY
Authors: SAWYER JR LUKACS JL HASSED SJ ARNOLD GL MITCHELL HF MUENKE M
Citation: Jr. Sawyer et al., SUBBAND DELETION OF 7Q36.3 IN A PATIENT WITH RING CHROMOSOME-7 - ASSOCIATION WITH HOLOPROSENCEPHALY, American journal of medical genetics, 65(2), 1996, pp. 113-116
OPITZ G BBB SYNDROME - CLINICAL COMPARISONS OF FAMILIES LINKED TO XP22 AND 22Q, AND A REVIEW OF THE LITERATURE/
Authors: ROBIN NH OPITZ JM MUENKE M
Citation: Nh. Robin et al., OPITZ G BBB SYNDROME - CLINICAL COMPARISONS OF FAMILIES LINKED TO XP22 AND 22Q, AND A REVIEW OF THE LITERATURE/, American journal of medical genetics, 62(3), 1996, pp. 305-317
CRANIOSYNOSTOSIS, PHILADELPHIA TYPE - A NEW AUTOSOMAL-DOMINANT SYNDROME WITH SAGITTAL CRANIOSYNOSTOSIS AND SYNDACTYLY OF THE FINGERS AND TOES
Authors: ROBIN NH SEGEL B CARPENTER G MUENKE M
Citation: Nh. Robin et al., CRANIOSYNOSTOSIS, PHILADELPHIA TYPE - A NEW AUTOSOMAL-DOMINANT SYNDROME WITH SAGITTAL CRANIOSYNOSTOSIS AND SYNDACTYLY OF THE FINGERS AND TOES, American journal of medical genetics, 62(2), 1996, pp. 184-191
OVEREXPRESSION OF AN OSTEOGENIC MORPHOGEN IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA
Authors: SHAFRITZ AB SHORE EM GANNON FH ZASLOFF MA TAUB R MUENKE M KAPLAN FS
Citation: Ab. Shafritz et al., OVEREXPRESSION OF AN OSTEOGENIC MORPHOGEN IN FIBRODYSPLASIA OSSIFICANS PROGRESSIVA, The New England journal of medicine, 335(8), 1996, pp. 555-561
OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2
Authors: ROBIN NH FELDMAN GJ ARONSON AL MITCHELL HF WEKSBERG R LEONARD CO BURTON BK JOSEPHSON KD LAXOVA R ALECK KA ALLANSON JE GUIONALMEIDA ML MARTIN RA LEICHTMAN LG PRICE RA OPITZ JM MUENKE M
Citation: Nh. Robin et al., OPITZ-SYNDROME IS GENETICALLY HETEROGENEOUS, WITH ONE LOCUS ON XP22, AND A 2ND LOCUS ON 22Q11.2, Nature genetics, 11(4), 1995, pp. 459-461
MUTATIONS IN FGFRI AND FGFR2 CAUSE FAMILIAL AND SPORADIC PFEIFFER SYNDROME
Authors: SCHELL U HEHR A FELDMAN GJ ROBIN NH ZACKAI EH DEDIESMULDERS C VISKOCHIL DH STEWART JM WOLFF G OHASHI H PRICE RA COHEN MM MUENKE M
Citation: U. Schell et al., MUTATIONS IN FGFRI AND FGFR2 CAUSE FAMILIAL AND SPORADIC PFEIFFER SYNDROME, Human molecular genetics, 4(3), 1995, pp. 323-328
THE HUMAN OSMOREGULATORY NA+ MYO-INOSITOL COTRANSPORTER GENE (SLC5A3)- MOLECULAR-CLONING AND LOCALIZATION TO CHROMOSOME-21/
Authors: BERRY GT MALLEE JJ KWON HM RIM JS MULLA WR MUENKE M SPINNER NB
Citation: Gt. Berry et al., THE HUMAN OSMOREGULATORY NA+ MYO-INOSITOL COTRANSPORTER GENE (SLC5A3)- MOLECULAR-CLONING AND LOCALIZATION TO CHROMOSOME-21/, Genomics, 25(2), 1995, pp. 507-513
MILD EXPRESSION OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA - A REPORT OF 3 CASES
Authors: JANOFF HB TABAS JA SHORE EM MUENKE M DALINKA MK SCHLESINGER S ZASLOFF MA KAPLAN FS
Citation: Hb. Janoff et al., MILD EXPRESSION OF FIBRODYSPLASIA OSSIFICANS PROGRESSIVA - A REPORT OF 3 CASES, Journal of rheumatology, 22(5), 1995, pp. 976-978
CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION IN 7Q36
Authors: BELLONI E FRUMKIN A SCHERER SW ROVET J MITCHELL H BARNOSKI B HING A DONISKELLER H TSUI LC MUENKE M
Citation: E. Belloni et al., CHARACTERIZATION OF HOLOPROSENCEPHALY MINIMAL CRITICAL REGION IN 7Q36, Cytogenetics and cell genetics, 71(1), 1995, pp. 31-31
A REGION-SPECIFIC MICRODISSECTION LIBRARY FOR HUMAN-CHROMOSOME 2P23-]P21 AND THE ANALYSIS OF AN INTERSTITIAL DELETION OF 2P21
Authors: KAO FT YU J QI J TONG S MUENKE M
Citation: Ft. Kao et al., A REGION-SPECIFIC MICRODISSECTION LIBRARY FOR HUMAN-CHROMOSOME 2P23-]P21 AND THE ANALYSIS OF AN INTERSTITIAL DELETION OF 2P21, Cytogenetics and cell genetics, 68(1-2), 1995, pp. 17-18
FIBROBLAST-GROWTH-FACTOR RECEPTOR MUTATIONS IN HUMAN SKELETAL DISORDERS
Authors: MUENKE M SCHELL U
Citation: M. Muenke et U. Schell, FIBROBLAST-GROWTH-FACTOR RECEPTOR MUTATIONS IN HUMAN SKELETAL DISORDERS, Trends in genetics, 11(8), 1995, pp. 308-313
HUMAN OSMOREGULATORY NA+ MYO-INOSITOL COTRANSPORTER GENE MAPS TO CHROMOSOME-21, 21Q22.1/
Authors: BERRY GT MALLEE JJ KWON HM RIM JS MULLA WR MUENKE M SPINNER NB
Citation: Gt. Berry et al., HUMAN OSMOREGULATORY NA+ MYO-INOSITOL COTRANSPORTER GENE MAPS TO CHROMOSOME-21, 21Q22.1/, Pediatric research, 37(4), 1995, pp. 147-147
CLEIDOCRANIAL DYSPLASIA MAPS TO CHROMOSOME-6P
Authors: FELDMAN GJ ROBIN NH BRUETON LA THOMPSON E GASSER D ZACKAI FH MUENKE M
Citation: Gj. Feldman et al., CLEIDOCRANIAL DYSPLASIA MAPS TO CHROMOSOME-6P, Journal of dental research, 74, 1995, pp. 148-148
TRANSLOCATION T(2-3)(P21-22-Q26) AND MYELOID DISORDERS - FISH ANALYSIS AND MOLECULAR STUDY
Authors: RAYNAUD SD PARGANAS E SCHELL U GROSGEORGE J NUCIFORA G BARIN C TAILLAN B MUENKE M IHLE J AYRAUD N
Citation: Sd. Raynaud et al., TRANSLOCATION T(2-3)(P21-22-Q26) AND MYELOID DISORDERS - FISH ANALYSIS AND MOLECULAR STUDY, Blood, 86(10), 1995, pp. 2946-2946
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION IN 21Q22.3,EXCLUSION OF SIM2 AS A CANDIDATE GENE FOR HOLOPROSENCEPHALY, AND MAPPING OF SIM2 TO A REGION OF CHROMOSOME-21 IMPORTANT FOR DOWN-SYNDROME
Authors: MUENKE M BONE LJ MITCHELL HF HART I WALTON K HALLJOHNSON K IPPEL EF DIETZBAND J KVALOY K FAN CM TESSIERLAVIGNE M PATTERSON D
Citation: M. Muenke et al., PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION IN 21Q22.3,EXCLUSION OF SIM2 AS A CANDIDATE GENE FOR HOLOPROSENCEPHALY, AND MAPPING OF SIM2 TO A REGION OF CHROMOSOME-21 IMPORTANT FOR DOWN-SYNDROME, American journal of human genetics, 57(5), 1995, pp. 1074-1079
PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION IN 18P11.3
Authors: OVERHAUSER J MITCHELL HF ZACKAI EH TICK DB ROJAS K MUENKE M
Citation: J. Overhauser et al., PHYSICAL MAPPING OF THE HOLOPROSENCEPHALY CRITICAL REGION IN 18P11.3, American journal of human genetics, 57(5), 1995, pp. 1080-1085
Risultati: 1-25 | 26-50 | 51-71