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Results: 1-19 |
Results: 19
MOLECULAR ANALYSIS OF A (3-6) TRANSLOCATION DETECTED IN A PATIENT WITH SOTOS-SYNDROME
Authors: KOK K MOSSELAAR AH FABER HH WESTRA JL DRAAIJERS TG VANDERVEEN AY SCHRANDERSTUMPEL C BUYS CHCM
Citation: K. Kok et al., MOLECULAR ANALYSIS OF A (3-6) TRANSLOCATION DETECTED IN A PATIENT WITH SOTOS-SYNDROME, European journal of human genetics, 6, 1998, pp. 2093-2093
THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE
Authors: VANDENENDE JJ SCHRANDERSTUMPEL C RUPPRECHT E MEINECKE P MAROTEAUX P DEDIESMULDERS C HAMEL BCJ
Citation: Jj. Vandenende et al., THE CEREBRO-COSTO-MANDIBULAR SYNDROME - 7 PATIENTS AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 7(2), 1998, pp. 87-95
CONGENITAL HYDROCEPHALUS - NOSOLOGY AND GUIDELINES FOR CLINICAL APPROACH AND GENETIC-COUNSELING
Authors: SCHRANDERSTUMPEL C FRYNS JP
Citation: C. Schranderstumpel et Jp. Fryns, CONGENITAL HYDROCEPHALUS - NOSOLOGY AND GUIDELINES FOR CLINICAL APPROACH AND GENETIC-COUNSELING, European journal of pediatrics, 157(5), 1998, pp. 355-362
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
LOCALIZATION OF A GENE FOR OCULODENTODIGITAL SYNDROME TO HUMAN-CHROMOSOME 6Q22-Q24
Authors: GLADWIN A DONNAI D METCALFE K SCHRANDERSTUMPEL C BRUETON L VERLOES A AYLSWORTH A TORIELLO H WINTER R DIXON M
Citation: A. Gladwin et al., LOCALIZATION OF A GENE FOR OCULODENTODIGITAL SYNDROME TO HUMAN-CHROMOSOME 6Q22-Q24, Human molecular genetics, 6(1), 1997, pp. 123-127
ALAGILLE SYNDROME IN A FAMILY WITH DUPLICATION 20P11
Authors: MOOG U ENGELEN J ALBRECHTS J HOORNTJE T HENDRIKSE F SCHRANDERSTUMPEL C
Citation: U. Moog et al., ALAGILLE SYNDROME IN A FAMILY WITH DUPLICATION 20P11, Clinical dysmorphology, 5(4), 1996, pp. 279-288
X-LINKED MENTAL-RETARDATION AND NEUROLOGICAL SYMPTOMS - A NOSOLOGICALAPPROACH
Authors: SCHRANDERSTUMPEL C HOWELER C FRYNS JP
Citation: C. Schranderstumpel et al., X-LINKED MENTAL-RETARDATION AND NEUROLOGICAL SYMPTOMS - A NOSOLOGICALAPPROACH, American journal of medical genetics, 64(1), 1996, pp. 16-16
LUMPING X-LINKED HYDROCEPHALUS (MIM-ASTERISK-307000) AND MASA-SYNDROME (MIM-ASTERISK-303350)
Authors: SCHRANDERSTUMPEL C HOWELER C MEYER H WILLEMS P FRYNS JP
Citation: C. Schranderstumpel et al., LUMPING X-LINKED HYDROCEPHALUS (MIM-ASTERISK-307000) AND MASA-SYNDROME (MIM-ASTERISK-303350), American journal of medical genetics, 64(1), 1996, pp. 17-17
SPECTRUM OF X-LINKED HYDROCEPHALUS (HSAS), MASA SYNDROME, AND COMPLICATED SPASTIC PARAPLEGIA (SPG1) - CLINICAL REVIEW WITH 6 ADDITIONAL FAMILIES
Authors: SCHRANDERSTUMPEL C HOWELER C JONES M SOMMER A STEVENS C TINSCHERT S ISRAEL J FRYNS JP
Citation: C. Schranderstumpel et al., SPECTRUM OF X-LINKED HYDROCEPHALUS (HSAS), MASA SYNDROME, AND COMPLICATED SPASTIC PARAPLEGIA (SPG1) - CLINICAL REVIEW WITH 6 ADDITIONAL FAMILIES, American journal of medical genetics, 57(1), 1995, pp. 107-116
OPITZ BBBG SYNDROME - NEW FAMILY WITH LATE-ONSET, SERIOUS COMPLICATION
Authors: SCHRANDER J SCHRANDERSTUMPEL C BERG J FRIAS JL
Citation: J. Schrander et al., OPITZ BBBG SYNDROME - NEW FAMILY WITH LATE-ONSET, SERIOUS COMPLICATION, Clinical genetics, 48(2), 1995, pp. 76-79
MASA SYNDROME IS DUE TO MUTATIONS IN THE NEURAL CELL-ADHESION GENE L1CAM
Authors: VITS L VANCAMP G COUCKE P FRANSEN E DEBOULLE K REYNIERS E KORN B POUSTKA A WILSON G SCHRANDERSTUMPEL C WINTER RM SCHWARTZ C WILLEMS PJ
Citation: L. Vits et al., MASA SYNDROME IS DUE TO MUTATIONS IN THE NEURAL CELL-ADHESION GENE L1CAM, Nature genetics, 7(3), 1994, pp. 408-413
X-LINKED HYDROCEPHALUS AND MASA-SYNDROME PRESENT IN ONE FAMILY ARE DUE TO A SINGLE MISSENSE MUTATION IN EXON-28 OF THE L1CAM GENE
Authors: FRANSEN E SCHRANDERSTUMPEL C VITS L COUCKE P VANCAMP G WILLEMS PJ
Citation: E. Fransen et al., X-LINKED HYDROCEPHALUS AND MASA-SYNDROME PRESENT IN ONE FAMILY ARE DUE TO A SINGLE MISSENSE MUTATION IN EXON-28 OF THE L1CAM GENE, Human molecular genetics, 3(12), 1994, pp. 2255-2256
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
KABUKI (NIIKAWA-RUROKI) SYNDROME AND PARACENTRIC INVERSION OF THE SHORT ARM OF CHROMOSOME-4
Authors: FRYNS JP VANDENBERGHE H SCHRANDERSTUMPEL C
Citation: Jp. Fryns et al., KABUKI (NIIKAWA-RUROKI) SYNDROME AND PARACENTRIC INVERSION OF THE SHORT ARM OF CHROMOSOME-4, American journal of medical genetics, 53(2), 1994, pp. 204-205
EXCLUSIVELY MATERNAL TRANSMISSION OF AUTOSOMAL-DOMINANT BRACHMANN-DE LANGE SYNDROME
Authors: DEDIESMULDERS C SCHRANDERSTUMPEL C FRYNS JP THEUNISSEN P
Citation: C. Dediesmulders et al., EXCLUSIVELY MATERNAL TRANSMISSION OF AUTOSOMAL-DOMINANT BRACHMANN-DE LANGE SYNDROME, American journal of medical genetics, 52(3), 1994, pp. 363-363
PRADER-WILLI-LIKE PHENOTYPE IN FRAGILE-X SYNDROME
Authors: SCHRANDERSTUMPEL C GERVER WJ MEYER H ENGELEN J MULDER H FRYNS JP
Citation: C. Schranderstumpel et al., PRADER-WILLI-LIKE PHENOTYPE IN FRAGILE-X SYNDROME, Clinical genetics, 45(4), 1994, pp. 175-180
A DUPLICATION IN THE L1CAM GENE ASSOCIATED WITH X-LINKED HYDROCEPHALUS
Authors: VANCAMP G VITS L COUCKE P LYONNET S SCHRANDERSTUMPEL C DARBY J HOLDEN J MUNNICH A WILLEMS PJ
Citation: G. Vancamp et al., A DUPLICATION IN THE L1CAM GENE ASSOCIATED WITH X-LINKED HYDROCEPHALUS, Nature genetics, 4(4), 1993, pp. 421-425
FAMILIAL OCCURRENCE OF RENAL AND MULLERIAN DUCT HYPOPLASIA, CRANIOFACIAL ANOMALIES, SEVERE GROWTH AND DEVELOPMENTAL DELAY - A 4P DELETION
Authors: DEDIESMULDERS C SCHRANDERSTUMPEL C FRYNS JP
Citation: C. Dediesmulders et al., FAMILIAL OCCURRENCE OF RENAL AND MULLERIAN DUCT HYPOPLASIA, CRANIOFACIAL ANOMALIES, SEVERE GROWTH AND DEVELOPMENTAL DELAY - A 4P DELETION, American journal of medical genetics, 47(6), 1993, pp. 936-936
MARDEN-WALKER SYNDROME - CASE-REPORT, LITERATURE-REVIEW AND NOSOLOGICDISCUSSION
Authors: SCHRANDERSTUMPEL C DEDIESMULDERS C DEKROM M SCHYNSFLEUREN S HAMEL B JAEKEN D FRYNS JP
Citation: C. Schranderstumpel et al., MARDEN-WALKER SYNDROME - CASE-REPORT, LITERATURE-REVIEW AND NOSOLOGICDISCUSSION, Clinical genetics, 43(6), 1993, pp. 303-308
Risultati: 1-19 |