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Results: 19
Authors:
LALIOTI MD
SCOTT HS
GENTON P
GRID D
OUAZZANI R
MRABET A
IBRAHIM S
GOUIDER R
DRAVET C
CHKILI T
BOTTANI A
BURESI C
MALAFOSSE A
ANTONARAKIS SE
Citation: Md. Lalioti et al., A PCR AMPLIFICATION METHOD REVEALS INSTABILITY OF THE DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) AND NO CORRELATION BETWEEN THE SIZE OF THE REPEAT AND AGE AT ONSET, American journal of human genetics, 62(4), 1998, pp. 842-847
Authors:
BONNEAU D
DAVID A
BOTTANI A
LACOMBE D
LONGY M
Citation: D. Bonneau et al., MUTATIONS OF PTEN IN PATIENTS WITH BANNAYAN-RILEY-RUVALCABA PHENOTYPE, European journal of human genetics, 6, 1998, pp. 4040-4040
Authors:
LALIOTI MD
SCOTT HS
GENTON P
GRID D
OUAZZANI R
MRABET A
IBRAHIM S
GOUIDER R
DRAVET C
CHKILI T
BOTTANI A
BURESI C
MALAFOSSE A
ANTONARAKIS SE
Citation: Md. Lalioti et al., THE EXPANDED DODECAMER REPEAT IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) IS UNSTABLE, SHOWS NO CORRELATION WITH AGE-OF-ONSET, AND RESULTS IN REDUCED EXPRESSION OF REPORTER GENES IN-VITRO, European journal of human genetics, 6, 1998, pp. 4166-4166
Authors:
LONGY M
COULON V
DUBOUE B
DAVID A
LARREGUE M
ENG C
AMATI P
KRAIMPS JL
BOTTANI A
LACOMBE D
BONNEAU D
Citation: M. Longy et al., MUTATIONS OF PTEN IN PATIENTS WITH BANNAYAN-RILEY-RUVALCABA PHENOTYPE, Journal of Medical Genetics, 35(11), 1998, pp. 886-889
Authors:
FOKSTUEN S
BOTTANI A
MEDEIROS PFV
ANTONARAKIS SE
STOLL C
SCHINZEL A
Citation: S. Fokstuen et al., LARYNGEAL ATRESIA TYPE-III (GLOTTIC WEB) WITH 22Q11.2 MICRODELETION -REPORT OF 3 PATIENTS, American journal of medical genetics, 70(2), 1997, pp. 130-133
Authors:
MARTINDUPAN RC
MORRIS MA
FAVRE H
JUNOD A
PIZZOLATO GP
BOTTANI A
Citation: Rc. Martindupan et al., MITOCHONDRIAL ANOMALIES IN A SWISS FAMILY WITH AUTOSOMAL-DOMINANT MYOGLOBINURIA, American journal of medical genetics, 69(4), 1997, pp. 365-369
Authors:
VERLOES A
TEMPLE IK
BONNET S
BOTTANI A
Citation: A. Verloes et al., COLOBOMA, MENTAL-RETARDATION, HYPOGONADISM, AND OBESITY - CRITICAL-REVIEW OF THE SO-CALLED BIEMOND SYNDROME TYPE-2, UPDATED NOSOLOGY, AND DELINEATION OF 3 NEW SYNDROMES, American journal of medical genetics, 69(4), 1997, pp. 370-379
Authors:
LALIOTI MD
SCOTT HS
BURESI C
ROSSIER C
BOTTANI A
MORRIS MA
MALAFOSSE A
ANTONARAKIS SE
Citation: Md. Lalioti et al., DODECAMER REPEAT EXPANSION IN CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY, Nature, 386(6627), 1997, pp. 847-851
Authors:
LALIOTI MD
SCOTT HS
BURESI C
ROSSIER C
BOTTANI A
MORRIS MA
MALAFOSSE A
ANTONARAKIS SE
Citation: Md. Lalioti et al., DODECAMER REPEAT EXPANSION IN THE CYSTATIN-B GENE IN PROGRESSIVE MYOCLONUS EPILEPSY (EPM1), American journal of human genetics, 61(4), 1997, pp. 272-272
Authors:
LALIOTI MD
MIROTSOU M
BURESI C
PEITSCH MC
ROSSIER C
OUAZZANI R
BALDYMOULINIER M
BOTTANI A
MALAFOSSE A
ANTONARAKIS SE
Citation: Md. Lalioti et al., IDENTIFICATION OF MUTATIONS IN CYSTATIN B, THE GENE RESPONSIBLE FOR THE UNVERRICHT-LUNDBORG TYPE OF PROGRESSIVE MYOCLONUS EPILEPSY (EPM1), American journal of human genetics, 60(2), 1997, pp. 342-351
Authors:
BOTTANI A
Citation: A. Bottani, HOLES IN THE INSCRUTABILITY-OF-REFERENCE THESIS, Lingua e stile, 31(1), 1996, pp. 3-25
Authors:
SIDRANSKY E
TAYEBI N
STUBBLEFIELD BK
ELIASON W
KLINEBURGESS A
PIZZOLATO GP
COX JN
PORTA J
BOTTANI A
DELOZIERBLANCHET CD
Citation: E. Sidransky et al., THE CLINICAL, MOLECULAR, AND PATHOLOGICAL CHARACTERIZATION OF A FAMILY WITH 2 CASES OF LETHAL PERINATAL TYPE-2 GAUCHER DISEASE, Journal of Medical Genetics, 33(2), 1996, pp. 132-136
Authors:
BOTTANI A
VERLOES A
Citation: A. Bottani et A. Verloes, MYHRE-GOMBO-SYNDROME - POSSIBLE LUMPING OF 2 OLD NEW SYNDROMES, American journal of medical genetics, 59(4), 1995, pp. 523-524
Authors:
VERLOES A
DAVID A
NGO L
BOTTANI A
Citation: A. Verloes et al., STRINGENT DELINEATION OF PALLISTER-HALL SYNDROME IN 2 LONG SURVIVING PATIENTS - IMPORTANCE OF RADIOLOGICAL ANOMALIES OF THE HANDS, Journal of Medical Genetics, 32(8), 1995, pp. 605-611
Authors:
LALIOTI MD
BOTTANI A
MORRIS MA
IOANNOU P
GINGRICH JC
ANTONARAKIS SE
Citation: Md. Lalioti et al., PROGRESSIVE MYOCLONUS EPILEPSY (EPM1) - IDENTIFICATION OF A LARGE SWISS FAMILY AND PROGRESS TOWARDS THE TRANSCRIPTION MAP OF 21Q22.3, American journal of human genetics, 57(4), 1995, pp. 1523-1523
Authors:
BOTTANI A
Citation: A. Bottani, ON THE INHERITANCE OF HARLEQUIN ICHTHYOSIS, Prenatal diagnosis, 14(11), 1994, pp. 1099-1099
Authors:
TRUEB R
BURG G
BOTTANI A
SCHINZEL A
Citation: R. Trueb et al., ECTODERMAL DYSPLASIA WITH CORKSCREW HAIRS OBSERVATION OF PROBABLE AUTOSOMAL-DOMINANT TRICHO-ODONTO-ONYCHODYSPLASIA WITH SYNDACTYLY, Journal of the American Academy of Dermatology, 30(2), 1994, pp. 289-290
Authors:
BOTTANI A
ROBINSON WP
DELOZIERBLANCHET CD
ENGEL E
MORRIS MA
SCHMITT B
THUNHOHENSTEIN L
SCHINZEL A
Citation: A. Bottani et al., ANGELMAN SYNDROME DUE TO PATERNAL UNIPARENTAL DISOMY OF CHROMOSOME-15- A MILDER PHENOTYPE, American journal of medical genetics, 51(1), 1994, pp. 35-40
Authors:
BOTTANI A
Citation: A. Bottani, X-LINKED SYNDROME OF MENTAL-RETARDATION SHORT STATURE, AND HYPERTELORISM - A NEW SYNDROME OR A FURTHER EXAMPLE OF THE FG SYNDROME, American journal of medical genetics, 51(1), 1994, pp. 87-87
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