ACNP - Italian Periodicals Catalogue

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Results: 1-25 |

Results: 25

3 BROTHERS WITH MENTAL AND PHYSICAL RETARDATION, HYDROCEPHALUS, MICROCEPHALY, INTERNAL MALFORMATIONS, SPEECH DISORDER, AND FACIAL ANOMALIES- MUTCHINICK-SYNDROME

Authors: DOERFLER W WIECZOREK D GILLESSENKAESBACH G ALBRECHT B PASSARGE E

Citation: W. Doerfler et al., 3 BROTHERS WITH MENTAL AND PHYSICAL RETARDATION, HYDROCEPHALUS, MICROCEPHALY, INTERNAL MALFORMATIONS, SPEECH DISORDER, AND FACIAL ANOMALIES- MUTCHINICK-SYNDROME, American journal of medical genetics, 73(2), 1997, pp. 210-216

A COMPARISON OF PHENOTYPE IN PATIENTS WITH PRADER-WILLI-SYNDROME (PWS) RESULTING FROM INTERSTITIAL DELETION AND UNIPARENTAL DISOMY

Authors: MITCHELL J LANGLOIS S GILLESSENKAESBACH G HORSTHEMKE B MICHAELIS R SCHINZEL AA ABELOVICH S LERER I SCHUFFENHAUER S GUITART M ROBINSON WP

Citation: J. Mitchell et al., A COMPARISON OF PHENOTYPE IN PATIENTS WITH PRADER-WILLI-SYNDROME (PWS) RESULTING FROM INTERSTITIAL DELETION AND UNIPARENTAL DISOMY, American journal of medical genetics, 64(4), 1996, pp. 7-7

A FEMALE-PATIENT WITH PARTIAL DUPLICATION-22(Q13-]QTER)

Authors: WIECZOREK D HOLTVOGT J THONIG S GILLESSENKAESBACH G

Citation: D. Wieczorek et al., A FEMALE-PATIENT WITH PARTIAL DUPLICATION-22(Q13-]QTER), Clinical dysmorphology, 7(4), 1998, pp. 289-294

A PATIENT WITH INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3(PTER-]P21.2 /P12-]QTER) AND A CHARGE-LIKE PHENOTYPE/

Authors: WIECZOREK D BOLT J SCHWECHHEIMER K GILLESSENKAESBACH G

Citation: D. Wieczorek et al., A PATIENT WITH INTERSTITIAL DELETION OF THE SHORT ARM OF CHROMOSOME-3(PTER-]P21.2 /P12-]QTER) AND A CHARGE-LIKE PHENOTYPE/, American journal of medical genetics, 69(4), 1997, pp. 413-417

BLEPHARO-CHEILO-DONTIC (BCD) SYNDROME

Authors: GORLIN RJ ZELLWEGER H CURTIS MW WIEDEMANN HR WARBURG M MAJEWSKI F GILLESSENKAESBACH G PRAHLANDERSEN B ZACKAI E

Citation: Rj. Gorlin et al., BLEPHARO-CHEILO-DONTIC (BCD) SYNDROME, American journal of medical genetics, 65(2), 1996, pp. 109-112

CARDIO-FACIO-CUTANEOUS (CFC)-SYNDROME - A DISTINCT ENTITY - REPORT OF3 PATIENTS DEMONSTRATING THE DIAGNOSTIC DIFFICULTIES IN DELINEATION OF CFC-SYNDROME

Authors: WIECZOREK D MAJEWSKI F GILLESSENKAESBACH G

Citation: D. Wieczorek et al., CARDIO-FACIO-CUTANEOUS (CFC)-SYNDROME - A DISTINCT ENTITY - REPORT OF3 PATIENTS DEMONSTRATING THE DIAGNOSTIC DIFFICULTIES IN DELINEATION OF CFC-SYNDROME, Clinical genetics, 52(1), 1997, pp. 37-46

CLINICAL AND MOLECULAR STUDIES IN FRAGILE-X PATIENTS WITH A PRADER-WILLI-LIKE PHENOTYPE

Authors: GILLESSENKAESBACH G HORSTHEMKE B

Citation: G. Gillessenkaesbach et B. Horsthemke, CLINICAL AND MOLECULAR STUDIES IN FRAGILE-X PATIENTS WITH A PRADER-WILLI-LIKE PHENOTYPE, Journal of Medical Genetics, 31(3), 1994, pp. 260-261

CLINICAL SPECTRUM AND MOLECULAR DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME PATIENTS WITH AN IMPRINTING MUTATION

Authors: SAITOH S BUITING K CASSIDY SB CONROY JM DRISCOLL DJ GABRIEL JM GILLESSENKAESBACH G GLENN CC GREENSWAG LR HORSTHEMKE B KONDO I KUWAJIMA K NIIKAWA N ROGAN PK SCHWARTZ S SEIP J WILLIAMS CA NICHOLLS RD

Citation: S. Saitoh et al., CLINICAL SPECTRUM AND MOLECULAR DIAGNOSIS OF ANGELMAN AND PRADER-WILLI-SYNDROME PATIENTS WITH AN IMPRINTING MUTATION, American journal of medical genetics, 68(2), 1997, pp. 195-206

COMPARISON OF PHENOTYPE IN UNIPARENTAL DISOMY AND DELETION PRADER-WILLI-SYNDROME - SEX-SPECIFIC DIFFERENCES

Authors: MITCHELL J SCHINZEL A LANGLOIS S GILLESSENKAESBACH G SCHUFFENHAUER S MICHAELIS R ABELIOVICH D LERER I CHRISTIAN S GUITART M MCFADDEN DE ROBINSON WP

Citation: J. Mitchell et al., COMPARISON OF PHENOTYPE IN UNIPARENTAL DISOMY AND DELETION PRADER-WILLI-SYNDROME - SEX-SPECIFIC DIFFERENCES, American journal of medical genetics, 65(2), 1996, pp. 133-136

DIFFUSE POLYMICROGYRIA ASSOCIATED WITH AN UNUSUAL PATTERN OF MULTIPLECONGENITAL-ANOMALIES INCLUDING TURRIBRACHYCEPHALY AND HYPOGENITALISM

Authors: COHN RD GILLESSENKAESBACH G DOBYNS WB KAHN T LENARD HG VOIT T

Citation: Rd. Cohn et al., DIFFUSE POLYMICROGYRIA ASSOCIATED WITH AN UNUSUAL PATTERN OF MULTIPLECONGENITAL-ANOMALIES INCLUDING TURRIBRACHYCEPHALY AND HYPOGENITALISM, American journal of medical genetics, 63(1), 1996, pp. 314-317

DNA METHYLATION BASED TESTING OF 450 PATIENTS SUSPECTED OF HAVING PRADER-WILLI-SYNDROME

Authors: GILLESSENKAESBACH G GROSS S KAYAWESTERLOH S PASSARGE E HORSTHEMKE B

Citation: G. Gillessenkaesbach et al., DNA METHYLATION BASED TESTING OF 450 PATIENTS SUSPECTED OF HAVING PRADER-WILLI-SYNDROME, Journal of Medical Genetics, 32(2), 1995, pp. 88-92

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

FAMILIAL TRANSLOCATIONS INVOLVING 15Q11-Q13 CAN GIVE RISE TO INTERSTITIAL DELETIONS CAUSING PRADER-WILLI OR ANGELMAN SYNDROME

Authors: HORSTHEMKE B MAATKIEVIT A SLEEGERS E VANDENOUWELAND A BUITING K LICH C MOLLEVANGER P BEVERSTOCK G GILLESSENKAESBACH G SCHWANITZ G

Citation: B. Horsthemke et al., FAMILIAL TRANSLOCATIONS INVOLVING 15Q11-Q13 CAN GIVE RISE TO INTERSTITIAL DELETIONS CAUSING PRADER-WILLI OR ANGELMAN SYNDROME, Journal of Medical Genetics, 33(10), 1996, pp. 848-851

FURTHER PATIENT WITH ANGELMAN SYNDROME DUE TO PATERNAL DISOMY OF CHROMOSOME-15 AND A MILDER PHENOTYPE

Authors: GILLESSENKAESBACH G ALBRECHT B PASSARGE E HORSTHEMKE B

Citation: G. Gillessenkaesbach et al., FURTHER PATIENT WITH ANGELMAN SYNDROME DUE TO PATERNAL DISOMY OF CHROMOSOME-15 AND A MILDER PHENOTYPE, American journal of medical genetics, 56(3), 1995, pp. 328-329

GENOTYPE-PHENOTYPE CORRELATION IN A SERIES OF 167 DELETION AND NONDELETION PATIENTS WITH PRADER-WILLI-SYNDROME

Authors: GILLESSENKAESBACH G ROBINSON W LOHMANN D KAYAWESTERLOH S PASSARGE E HORSTHEMKE B

Citation: G. Gillessenkaesbach et al., GENOTYPE-PHENOTYPE CORRELATION IN A SERIES OF 167 DELETION AND NONDELETION PATIENTS WITH PRADER-WILLI-SYNDROME, Human genetics, 96(6), 1995, pp. 638-643

IMPRINTING MUTATIONS SUGGESTED BY ABNORMAL DNA METHYLATION PATTERNS IN FAMILIAL ANGELMAN AND PRADER-WILLI SYNDROMES

Authors: REIS A DITTRICH B GREGER V BUITING K LALANDE M GILLESSENKAESBACH G ANVRET M HORSTHEMKE B

Citation: A. Reis et al., IMPRINTING MUTATIONS SUGGESTED BY ABNORMAL DNA METHYLATION PATTERNS IN FAMILIAL ANGELMAN AND PRADER-WILLI SYNDROMES, American journal of human genetics, 54(5), 1994, pp. 741-747

INFANTILE CORTICAL HYPEROSTOSIS - A CASE- REPORT

Authors: GRASEMANN H FANGMANN C LETTGEN B WINKIELMAN J GILLESSENKAESBACH G BONZEL KE

Citation: H. Grasemann et al., INFANTILE CORTICAL HYPEROSTOSIS - A CASE- REPORT, Monatsschrift fur Kinderheilkunde, 143(11), 1995, pp. 1087-1090

INVERSION DUPLICATION OF THE SHORT ARM OF CHROMOSOME-8 - CLINICAL-DATA ON 7 PATIENTS AND REVIEW OF THE LITERATURE

Authors: DEDIESMULDERS CEM ENGELEN JJM SCHRANDERSTUMPEL TRM GOVAERTS LCP DEVRIES B VLES JSH WAGEMANS A SCHIJNSFLEUREN S GILLESSENKAESBACH G FRYNS JP

Citation: Cem. Dediesmulders et al., INVERSION DUPLICATION OF THE SHORT ARM OF CHROMOSOME-8 - CLINICAL-DATA ON 7 PATIENTS AND REVIEW OF THE LITERATURE, American journal of medical genetics, 59(3), 1995, pp. 369-374

JEUNE SYNDROME WITH TONGUE LOBULATION AND PREAXIAL POLYDACTYLY, AND JEUNE SYNDROME WITH SITUS-INVERSUS AND ASPLENIA - COMPOUND HETEROZYGOSITY JEUNE-MOHR AND JEUNE-IVEMARK

Authors: MAJEWSKI F OZTURK B GILLESSENKAESBACH G

Citation: F. Majewski et al., JEUNE SYNDROME WITH TONGUE LOBULATION AND PREAXIAL POLYDACTYLY, AND JEUNE SYNDROME WITH SITUS-INVERSUS AND ASPLENIA - COMPOUND HETEROZYGOSITY JEUNE-MOHR AND JEUNE-IVEMARK, American journal of medical genetics, 63(1), 1996, pp. 74-79

MICROCEPHALY, SEIZURES, GENITAL HYPOPLASIA, AND ABNORMALITIES OF THE HANDS AND FEET IN A 4-YEAR-OLD BOY WITH POSSIBLE WIEDEMANN SYNDROME

Authors: WIECZOREK D GILLESSENKAESBACH G PLEWA S PASSARGE E

Citation: D. Wieczorek et al., MICROCEPHALY, SEIZURES, GENITAL HYPOPLASIA, AND ABNORMALITIES OF THE HANDS AND FEET IN A 4-YEAR-OLD BOY WITH POSSIBLE WIEDEMANN SYNDROME, Clinical genetics, 49(2), 1996, pp. 98-102

PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION AND IMPRINTING MUTATIONS INTHE PRADER-WILLI-SYNDROME

Authors: DITTRICH B BUITING K GILLESSENKAESBACH G HORSTHEMKE B

Citation: B. Dittrich et al., PARENT-OF-ORIGIN SPECIFIC DNA METHYLATION AND IMPRINTING MUTATIONS INTHE PRADER-WILLI-SYNDROME, American journal of human genetics, 53(3), 1993, pp. 1151-1151

SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS

Authors: BUITING K DITTRICH B GROSS S LICH C FARBER C BUCHHOLZ T SMITH E REIS A BURGER J NOTHEN MM BARTHWITTE U JANSSEN B ABELIOVICH D LERER I VANDENOUWELAND AMW HALLEY DJJ SCHRANDERSTUMPEL C SMEETS H MEINECKE P MALCOLM S GARDNER A LALANDE M NICHOLLS RD FRIEND K SCHULZE A MATTHIJS G KOKKONEN H HILBERT P VANMALDERGEM L GLOVER G CARBONELL P WILLEMS P GILLESSENKAESBACH G HORSTHEMKE B

Citation: K. Buiting et al., SPORADIC IMPRINTING DEFECTS IN PRADER-WILLI-SYNDROME AND ANGELMAN-SYNDROME - IMPLICATIONS FOR IMPRINT-SWITCH MODELS, GENETIC-COUNSELING, AND PRENATAL-DIAGNOSIS, American journal of human genetics, 63(1), 1998, pp. 170-180

THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS

Authors: SCHRANDERSTUMPEL C MEINECKE P WILSON G GILLESSENKAESBACH G TINSCHERT S KONIG R PHILIP N RIZZO R SCHRANDER J PFEIFFER L MAATKIEVIT A VANDERBURGT I VANESSEN T LATTA E HILLIG U VERLOES A JOURNEL H FRYNS JP

Citation: C. Schranderstumpel et al., THE KABUKI (NIIKAWA-KUROKI) SYNDROME - FURTHER DELINEATION OF THE PHENOTYPE IN 29 NON-JAPANESE PATIENTS, European journal of pediatrics, 153(6), 1994, pp. 438-445

THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15

Authors: ROBINSON WP LANGLOIS S BERNASCONI F CLARK S CHRISTIAN S LEDBETTER DH GILLESSENKAESBACH G HORSTHEMKE B LERER I ABELIOVICH D MICHAELIS R SCHUFFENHAUER S SCHINZEL AA

Citation: Wp. Robinson et al., THE ORIGIN OF MATERNAL UNIPARENTAL DISOMY-15, American journal of medical genetics, 64(4), 1996, pp. 2-2

VALIDATION STUDIES OF SNRPN METHYLATION AS A DIAGNOSTIC-TEST FOR PRADER-WILLI-SYNDROME

Authors: KUBOTA T SUTCLIFFE JS ARADHYA S GILLESSENKAESBACH G CHRISTIAN SL HORSTHEMKE B BEAUDET AL LEDBETTER DH

Citation: T. Kubota et al., VALIDATION STUDIES OF SNRPN METHYLATION AS A DIAGNOSTIC-TEST FOR PRADER-WILLI-SYNDROME, American journal of medical genetics, 66(1), 1996, pp. 77-80

Risultati: 1-25 |