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Results: 1-25 | 26-50 | 51-66
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MUTATIONS IN HUMAN TBX3 ALTER LIMB, APOCRINE, AND GENITAL DEVELOPMENTIN ULNAR-MAMMARY SYNDROME (VOL 16, PG 311, 1997)
Authors: BAMSHAD M LIN RC LAW DJ WATKINS WS KRAKOWIAK PA MOORE ME FRANCESCHINI P LALA R HOLMES LB GEBUHR TC BRUNEAU B SCHINZEL A SEIDMAN JG SEIDMAN CE JORDE LB
Citation: M. Bamshad et al., MUTATIONS IN HUMAN TBX3 ALTER LIMB, APOCRINE, AND GENITAL DEVELOPMENTIN ULNAR-MAMMARY SYNDROME (VOL 16, PG 311, 1997), Nature genetics, 19(1), 1998, pp. 102-102
ISOCHROMOSOMES 12P AND 9P - PARENTAL ORIGIN AND POSSIBLE MECHANISMS OF FORMATION
Authors: DUTLY F BALMER D BAUMER A BINKERT F SCHINZEL A
Citation: F. Dutly et al., ISOCHROMOSOMES 12P AND 9P - PARENTAL ORIGIN AND POSSIBLE MECHANISMS OF FORMATION, European journal of human genetics, 6(2), 1998, pp. 140-144
SUBMICROSCOPIC SUBTELOMERIC CHROMOSOME-ABERRATIONS - AN INVESTIGATIONOF PATIENTS WITH MENTAL-RETARDATION + - MCA SYNDROMES WITH TELOMERIC AND SUBTELOMERIC FISH PROBES/
Authors: RIEGEL M BRECEVIC L SCHINZEL A
Citation: M. Riegel et al., SUBMICROSCOPIC SUBTELOMERIC CHROMOSOME-ABERRATIONS - AN INVESTIGATIONOF PATIENTS WITH MENTAL-RETARDATION + - MCA SYNDROMES WITH TELOMERIC AND SUBTELOMERIC FISH PROBES/, European journal of human genetics, 6, 1998, pp. 706-706
THE CONTRIBUTION OF UNIPARENTAL DISOMY TO CONGENITAL DEVELOPMENTAL DEFECTS IN CHILDREN BORN TO OLD MOTHERS
Authors: GINSBURG C FOKSTUEN S SCHINZEL A
Citation: C. Ginsburg et al., THE CONTRIBUTION OF UNIPARENTAL DISOMY TO CONGENITAL DEVELOPMENTAL DEFECTS IN CHILDREN BORN TO OLD MOTHERS, European journal of human genetics, 6, 1998, pp. 4130-4130
MUTATION ANALYSIS IN THE NEUROFIBROMATOSIS-2 GENE
Authors: HERGERSBERG M BOLTSHAUSER E SCHINZEL A SPIEGEL R LANDAU K KATO R
Citation: M. Hergersberg et al., MUTATION ANALYSIS IN THE NEUROFIBROMATOSIS-2 GENE, European journal of human genetics, 6, 1998, pp. 4193-4193
HISTOPATHOLOGIC AND ULTRASTRUCTURAL-STUDY OF LUPUS-LIKE SKIN-LESIONS IN A PATIENT WITH BLOOM-SYNDROME
Authors: GROB M WYSS M SPYCHER MA DOMMANN S SCHINZEL A BURG G TRUEB RM
Citation: M. Grob et al., HISTOPATHOLOGIC AND ULTRASTRUCTURAL-STUDY OF LUPUS-LIKE SKIN-LESIONS IN A PATIENT WITH BLOOM-SYNDROME, Journal of cutaneous pathology, 25(5), 1998, pp. 275-278
STRUCTURAL DECOMPOSITION OF GENETIC DIVERSITY IN SCHIZOPHRENIC, SCHIZOAFFECTTVE, AND BIPOLAR PATIENTS
Authors: STASSEN HH BRIDLER R CAMENISCH I SCHINZEL A HERGERSBERG M SCHARFETTER C
Citation: Hh. Stassen et al., STRUCTURAL DECOMPOSITION OF GENETIC DIVERSITY IN SCHIZOPHRENIC, SCHIZOAFFECTTVE, AND BIPOLAR PATIENTS, American journal of medical genetics, 81(6), 1998, pp. 465-465
FUNCTIONAL POLYMORPHIC TRIPLET REPEATS IN PSYCHIATRIC-DISORDERS - AN ASSOCIATION STUDY
Authors: KATO R CAMENISCH I SCHARFETTER C SCHINZEL A STASSEN H HERGERSBERG M
Citation: R. Kato et al., FUNCTIONAL POLYMORPHIC TRIPLET REPEATS IN PSYCHIATRIC-DISORDERS - AN ASSOCIATION STUDY, American journal of medical genetics, 81(6), 1998, pp. 543-543
7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11
Authors: DUTLY F BAUMER A KAYSERILI H YUKSELAPAK M ZEROVA T HEBISCH G SCHINZEL A
Citation: F. Dutly et al., 7 CASES OF WIEDEMANN-BECKWITH-SYNDROME, INCLUDING THE FIRST REPORTED CASE OF MOSAIC PATERNAL ISODISOMY ALONG THE WHOLE CHROMOSOME-11, American journal of medical genetics, 79(5), 1998, pp. 347-353
A 5-YEAR-OLD GIRL WITH INTERSTITIAL DELETION OF 3P14 - CLINICAL, PSYCHOLOGIC, CYTOGENETIC, AND MOLECULAR STUDIES
Authors: SCHINZEL A GUNDELFINGER R DUTLY F BAUMER A BINKERT F
Citation: A. Schinzel et al., A 5-YEAR-OLD GIRL WITH INTERSTITIAL DELETION OF 3P14 - CLINICAL, PSYCHOLOGIC, CYTOGENETIC, AND MOLECULAR STUDIES, American journal of medical genetics, 77(4), 1998, pp. 302-305
AN ARITHMETIC CHARACTERIZATION OF LINEAR RECURRENT SEQUENCES
Authors: BARSKY D BEZIVIN JP SCHINZEL A
Citation: D. Barsky et al., AN ARITHMETIC CHARACTERIZATION OF LINEAR RECURRENT SEQUENCES, Journal fur die Reine und Angewandte Mathematik, 494, 1998, pp. 73-84
RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME
Authors: MERIENNE K JACQUOT S TRIVIER E PANNETIER S ROSSI A SCOTT C SCHINZEL A CASTELLAN C KRESS W HANAUER A
Citation: K. Merienne et al., RAPID IMMUNOBLOT AND KINASE ASSAY TESTS FOR A SYNDROMAL FORM OF X-LINKED MENTAL-RETARDATION - COFFIN-LOWRY-SYNDROME, Journal of Medical Genetics, 35(11), 1998, pp. 890-894
22Q11.2 DELETIONS IN A SERIES OF PATIENTS WITH NONSELECTIVE CONGENITAL HEART-DEFECTS - INCIDENCE, TYPE OF DEFECTS AND PARENTAL ORIGIN
Authors: FOKSTUEN S ARBENZ U ARTAN S DUTLY F BAUERSFELD U BRECEVIC L FASNACHT M ROTHLISBERGER B SCHINZEL A
Citation: S. Fokstuen et al., 22Q11.2 DELETIONS IN A SERIES OF PATIENTS WITH NONSELECTIVE CONGENITAL HEART-DEFECTS - INCIDENCE, TYPE OF DEFECTS AND PARENTAL ORIGIN, Clinical genetics, 53(1), 1998, pp. 63-69
A CHROMOSOMAL DELETION MAP OF HUMAN MALFORMATIONS
Authors: BREWER C HOLLOWAY S ZAWALNYSKI P SCHINZEL A FITZPATRICK D
Citation: C. Brewer et al., A CHROMOSOMAL DELETION MAP OF HUMAN MALFORMATIONS, American journal of human genetics, 63(4), 1998, pp. 1153-1159
MUTATIONS IN HUMAN TBX3 ALTER LIMB, APOCRINE AND GENITAL DEVELOPMENT IN ULNAR-MAMMARY SYNDROME
Authors: BAMSHAD M LIN RC LAW DJ WATKINS WS KRAKOWIAK PA MOORE ME FRANCESCHINI P LALA R HOLMES LB GEBUHR TC BRUNEAU BG SCHINZEL A SEIDMAN JG SEIDMAN CE JORDE LB
Citation: M. Bamshad et al., MUTATIONS IN HUMAN TBX3 ALTER LIMB, APOCRINE AND GENITAL DEVELOPMENT IN ULNAR-MAMMARY SYNDROME, Nature genetics, 16(3), 1997, pp. 311-315
TRISOMY FIRST, TRANSLOCATION 2ND, UNIPARENTAL DISOMY AND PARTIAL TRISOMY 3RD - A NEW MECHANISM FOR COMPLEX CHROMOSOMAL ANEUPLOIDY
Authors: SCHINZEL A KOTZOT D BRECEVIC L ROBINSON WP DUTLY F DAUWERSE H BINKERT F BAUMER A AUSSERER B
Citation: A. Schinzel et al., TRISOMY FIRST, TRANSLOCATION 2ND, UNIPARENTAL DISOMY AND PARTIAL TRISOMY 3RD - A NEW MECHANISM FOR COMPLEX CHROMOSOMAL ANEUPLOIDY, European journal of human genetics, 5(5), 1997, pp. 308-314
MUTATIONAL ANALYSIS OF THE SOX9 GENE IN CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL - LACK OF GENOTYPE PHENOTYPE CORRELATIONS/
Authors: MEYER J SUDBECK P HELD M WAGNER T SCHMITZ ML BRICARELLI FD EGGERMONT E FRIEDRICH U HAAS OA KOBELT A LEROY JG VANMALDERGEM L MICHEL E MITULLA B PFEIFFER RA SCHINZEL A SCHMIDT H SCHERER G
Citation: J. Meyer et al., MUTATIONAL ANALYSIS OF THE SOX9 GENE IN CAMPOMELIC DYSPLASIA AND AUTOSOMAL SEX REVERSAL - LACK OF GENOTYPE PHENOTYPE CORRELATIONS/, Human molecular genetics, 6(1), 1997, pp. 91-98
ESCHER-HIRT-SYNDROME
Authors: KOTZOT D SCHLEGEL C WICHMANN W SCHINZEL A
Citation: D. Kotzot et al., ESCHER-HIRT-SYNDROME, Clinical dysmorphology, 6(4), 1997, pp. 315-321
LINKAGE MAPPING IN 29 BARDET-BIEDL-SYNDROME FAMILIES CONFIRMS LOCI INCHROMOSOMAL REGIONS 11Q13, 15Q22.3-Q23, AND 16Q21
Authors: BRUFORD EA RIISE R TEAGUE PW PORTER K THOMSON KL MOORE AT JAY M WARBURG M SCHINZEL A TOMMERUP N TORNQVIST K ROSENBERG T PATTON M MANSFIELD DC WRIGHT AF
Citation: Ea. Bruford et al., LINKAGE MAPPING IN 29 BARDET-BIEDL-SYNDROME FAMILIES CONFIRMS LOCI INCHROMOSOMAL REGIONS 11Q13, 15Q22.3-Q23, AND 16Q21, Genomics, 41(1), 1997, pp. 93-99
HUMAN NEUROSERPIN (PI12) - CDNA CLONING AND CHROMOSOMAL LOCALIZATION TO 3Q26
Authors: SCHRIMPF SP BLEIKER AJ BRECEVIC L KOZLOV SV BERGER P OSTERWALDER T KRUEGER SR SCHINZEL A SONDEREGGER P
Citation: Sp. Schrimpf et al., HUMAN NEUROSERPIN (PI12) - CDNA CLONING AND CHROMOSOMAL LOCALIZATION TO 3Q26, Genomics, 40(1), 1997, pp. 55-62
ATAXIC GAIT AND MENTAL-RETARDATION WITH ABSENCE OF THE PATERNAL CHROMOSOME-8 AND AN IDIC(8)(P23.3) - IMPRINTING EFFECT OR NULLISOMY FOR DISTAL 8P GENES
Authors: PIANTANIDA M DELLAVECCHIA C FLORIDIA G GIGLIO S HOELLER H DORDI B DANESINO C SCHINZEL A ZUFFARDI O
Citation: M. Piantanida et al., ATAXIC GAIT AND MENTAL-RETARDATION WITH ABSENCE OF THE PATERNAL CHROMOSOME-8 AND AN IDIC(8)(P23.3) - IMPRINTING EFFECT OR NULLISOMY FOR DISTAL 8P GENES, Human genetics, 99(6), 1997, pp. 766-771
CLINICAL AND GENETIC-HETEROGENEITY IN MECKEL-SYNDROME
Authors: PAAVOLA P SALONEN R BAUMER A SCHINZEL A BOYD PA GOULD S MEUSBURGER H TENCONI R BARNICOAT A WINTER R PELTONEN L
Citation: P. Paavola et al., CLINICAL AND GENETIC-HETEROGENEITY IN MECKEL-SYNDROME, Human genetics, 101(1), 1997, pp. 88-92
ORIGIN AND MECHANISMS OF FORMATION OF CHROMOSOME-ABERRATIONS - NONDISJUNCTION, UNIPARENTAL DISOMIES AND STRUCTURAL REARRANGEMENTS
Authors: SCHINZEL A
Citation: A. Schinzel, ORIGIN AND MECHANISMS OF FORMATION OF CHROMOSOME-ABERRATIONS - NONDISJUNCTION, UNIPARENTAL DISOMIES AND STRUCTURAL REARRANGEMENTS, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 6-6
INTERSTITIAL DELETION, DEL(4)(Q12Q21.1) DUE TO DE-NOVO UNBALANCED TRANSLOCATION
Authors: BINKERT F BRECEVIC L DUTLY F SCHINZEL A
Citation: F. Binkert et al., INTERSTITIAL DELETION, DEL(4)(Q12Q21.1) DUE TO DE-NOVO UNBALANCED TRANSLOCATION, Cytogenetics and cell genetics, 77(1-2), 1997, pp. 198-198
LARYNGEAL ATRESIA TYPE-III (GLOTTIC WEB) WITH 22Q11.2 MICRODELETION -REPORT OF 3 PATIENTS
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
Risultati: 1-25 | 26-50 | 51-66