ACNP - Italian Periodicals Catalogue

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Results: 1-25 | 26-45 |

Results: 26-45/45

PROXIMAL FEMORAL FOCAL DEFICIENCY (PFFD) AND FIBULAR A HYPOPLASIA (FA/H) - A MODEL OF A DEVELOPMENTAL FIELD DEFECT/

Authors: SORGE G ARDITO S GENUARDI M PAVONE V RIZZO R CONTI G NERI G KATZ BE OPITZ JM

Citation: G. Sorge et al., PROXIMAL FEMORAL FOCAL DEFICIENCY (PFFD) AND FIBULAR A HYPOPLASIA (FA/H) - A MODEL OF A DEVELOPMENTAL FIELD DEFECT/, American journal of medical genetics, 55(4), 1995, pp. 427-432

ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21

Authors: GURRIERI F CAMMARATA M AVARELLO RM GENUARDI M POMPONI MG NERI G GIUFFRE L

Citation: F. Gurrieri et al., ULNAR RAY DEFECT IN AN INFANT WITH A 6Q21-7Q31.2-TRANSLOCATION - FURTHER EVIDENCE FOR THE EXISTENCE OF A LIMB DEFECT GENE IN 6Q21, American journal of medical genetics, 55(3), 1995, pp. 315-318

CONSTITUTIONAL TRISOMY-8 AND MYELODYSPLASIA - REPORT OF A CASE AND REVIEW OF THE LITERATURE

Authors: ZOLLINO M GENUARDI M BAJER J TORNESELLO A MASTRANGELO S ZAMPINO G MASTRANGELO R NERI G

Citation: M. Zollino et al., CONSTITUTIONAL TRISOMY-8 AND MYELODYSPLASIA - REPORT OF A CASE AND REVIEW OF THE LITERATURE, Leukemia research, 19(10), 1995, pp. 733-736

DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL

Authors: GENUARDI M BARDONI B FLORIDIA G CHIURAZZI P SCARANO G ZOLLINO M GARCEA N MARTININERI ME NERI G

Citation: M. Genuardi et al., DICENTRIC CHROMOSOME-Y ASSOCIATED WITH LEYDIG-CELL AGENESIS AND SEX REVERSAL, Clinical genetics, 47(1), 1995, pp. 38-41

TELOMERASE ACTIVITY IN HEMATOPOIETIC PROGENITORS FROM BONE-MARROW ANDPERIPHERAL-BLOOD

Authors: HOHAUS S VOSO MT BELLACOSA A BARBERA EOL GENUARDI M NERI G LEONE G

Citation: S. Hohaus et al., TELOMERASE ACTIVITY IN HEMATOPOIETIC PROGENITORS FROM BONE-MARROW ANDPERIPHERAL-BLOOD, Blood, 86(10), 1995, pp. 1189-1189

MUTATIONAL ANALYSIS OF MISMATCH REPAIR GENES IN HEREDITARY NONPOLYPOSIS COLON-CANCER

Authors: BELLACOSA A GENUARDI M LEONARDI F CAVALLO S VENTURA A ANTI M DELEON MP NERI G

Citation: A. Bellacosa et al., MUTATIONAL ANALYSIS OF MISMATCH REPAIR GENES IN HEREDITARY NONPOLYPOSIS COLON-CANCER, American journal of human genetics, 57(4), 1995, pp. 313-313

MUTATIONAL ANALYSIS OF DISTAL-LESS GENES IN SPLIT HAND SPLIT FOOT ANOMALY

Authors: GENUARDI M GURRIERI F NANNI L BONCINELLI E EVANS JP NERI G

Citation: M. Genuardi et al., MUTATIONAL ANALYSIS OF DISTAL-LESS GENES IN SPLIT HAND SPLIT FOOT ANOMALY, American journal of human genetics, 57(4), 1995, pp. 753-753

FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY

Authors: CHIURAZZI P KOZAK L GENUARDI M GIOVANNUCCIUZIELLI ML BUSSANI C DAGNABRICARELLI F GRASSO M PERRONE L SEBASTIO G SPERANDEO MP OOSTRA BA NERI G

Citation: P. Chiurazzi et al., FRAGILE-X SYNDROME - ROUNDER CHROMOSOMES IN ITALY, American journal of human genetics, 57(4), 1995, pp. 919-919

POLYMORPHISMS OF THE PRION PROTEIN GENE IN ITALIAN PATIENTS WITH CREUTZFELDT-JAKOB-DISEASE

Authors: SALVATORE M GENUARDI M PETRAROLI R MASULLO C DALESSANDRO M POCCHIARI M

Citation: M. Salvatore et al., POLYMORPHISMS OF THE PRION PROTEIN GENE IN ITALIAN PATIENTS WITH CREUTZFELDT-JAKOB-DISEASE, Human genetics, 94(4), 1994, pp. 375-379

SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES

Authors: XU S ORTH U GURRIERI F CREMER M BEHMEL A GENUARDI M NERI G GAL A

Citation: S. Xu et al., SIMPSON-GOLABI-BEHMEL GENE IS CLOSELY LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES, Cytogenetics and cell genetics, 67(4), 1994, pp. 346-346

SPLIT HAND SPLIT FOOT ANOMALY AND 7Q22.1 - REPLY

Authors: GENUARDI M NERI G

Citation: M. Genuardi et G. Neri, SPLIT HAND SPLIT FOOT ANOMALY AND 7Q22.1 - REPLY, American journal of medical genetics, 53(1), 1994, pp. 90-90

SPLIT HAND SPLIT FOOT, SYNDACTYLY, URINARY-TRACT OBSTRUCTION, RADIAL,DIAPHRAGMATIC, AND NEURAL-TUBE DEFECTS - CZEIZEL-LOSONCI SYNDROME

Authors: GENUARDI M SILVESTRI E TOZZI C

Citation: M. Genuardi et al., SPLIT HAND SPLIT FOOT, SYNDACTYLY, URINARY-TRACT OBSTRUCTION, RADIAL,DIAPHRAGMATIC, AND NEURAL-TUBE DEFECTS - CZEIZEL-LOSONCI SYNDROME, American journal of medical genetics, 51(3), 1994, pp. 247-250

GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES

Authors: ORTH U GURRIERI F BEHMEL A GENUARDI M CREMER M GAL A NERI G

Citation: U. Orth et al., GENE FOR SIMPSON-GOLABI-BEHMEL SYNDROME IS LINKED TO HPRT IN XQ26 IN 2 EUROPEAN FAMILIES, American journal of medical genetics, 50(4), 1994, pp. 388-390

GENES FOR SPLIT HAND SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1/

Authors: GENUARDI M GURRIERI F NERI G

Citation: M. Genuardi et al., GENES FOR SPLIT HAND SPLIT FOOT AND LATERALITY DEFECTS ON 7Q22.1 AND XQ24-Q27.1/, American journal of medical genetics, 50(1), 1994, pp. 101-101

EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOTAND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY

Authors: GURRIERI F GENUARDI M CHIURAZZI P GILLESSENKAESBACH G NERI G

Citation: F. Gurrieri et al., EXCLUSION OF LINKAGE BETWEEN AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOTAND MARKERS FROM CHROMOSOME 7Q - FURTHER EVIDENCE FOR GENETIC-HETEROGENEITY, American journal of human genetics, 55(4), 1994, pp. 853-855

FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1

Authors: SCHERER SW POORKAJ P ALLEN T KIM J GESHURI D NUNES M SODER S STEPHENS K PAGON RA PATTON MA BERG MA DONLON T RIVERA H PFEIFFER RA NARITOMI K HUGHES H GENUARDI M GURRIERI F NERI G LOVREIN E MAGENIS E TSUI LC EVANS JP

Citation: Sw. Scherer et al., FINE MAPPING OF THE AUTOSOMAL-DOMINANT SPLIT HAND SPLIT FOOT LOCUS ONCHROMOSOME-7, BAND Q21.3-Q22.1, American journal of human genetics, 55(1), 1994, pp. 12-20

A NEW POINT MUTATION OF THE PRION PROTEIN GENE IN CREUTZFELDT-JAKOB-DISEASE

Authors: POCCHIARI M SALVATORE M CUTRUZZOLA F GENUARDI M ALLOCATELLI CT MASULLO C MACCHI G ALEMA G GALGANI S XI YG PETRAROLI R SILVESTRINI MC BRUNORI M

Citation: M. Pocchiari et al., A NEW POINT MUTATION OF THE PRION PROTEIN GENE IN CREUTZFELDT-JAKOB-DISEASE, Annals of neurology, 34(6), 1993, pp. 802-807

SPLIT HAND SPLIT FOOT ANOMALY IN A FAMILY SEGREGATING A BALANCED TRANSLOCATION WITH BREAKPOINT ON 7Q22.1

Authors: GENUARDI M POMPONI MG SAMMITO V BELLUSSI A ZOLLINO M NERI G

Citation: M. Genuardi et al., SPLIT HAND SPLIT FOOT ANOMALY IN A FAMILY SEGREGATING A BALANCED TRANSLOCATION WITH BREAKPOINT ON 7Q22.1, American journal of medical genetics, 47(6), 1993, pp. 823-831

CEREBRO-RENO-DIGITAL (MECKEL-LIKE) SYNDROME WITH DANDY-WALKER MALFORMATION, CYSTIC KIDNEYS, HEPATIC-FIBROSIS, AND POLYDACTYLY

Authors: GENUARDI M DIONISIVICI C SABETTA G MIGNOZZI M RIZZONI G COTUGNO G NERI MEM

Citation: M. Genuardi et al., CEREBRO-RENO-DIGITAL (MECKEL-LIKE) SYNDROME WITH DANDY-WALKER MALFORMATION, CYSTIC KIDNEYS, HEPATIC-FIBROSIS, AND POLYDACTYLY, American journal of medical genetics, 47(1), 1993, pp. 50-53

MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3

Authors: KOZAK L CHIURAZZI P GENUARDI M POMPONI MG ZOLLINO M NERI G

Citation: L. Kozak et al., MAPPING OF A GENE FOR NONSPECIFIC X-LINKED MENTAL-RETARDATION - EVIDENCE FOR LINKAGE TO CHROMOSOMAL REGION XP21.1-XP22.3, Journal of Medical Genetics, 30(10), 1993, pp. 866-869

Risultati: 1-25 | 26-45 |