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Results: 1-25 | 26-26
Results: 1-25/26
DETECTION OF STRUCTURAL ABNORMALITIES IN SPERMATOZOA OF A TRANSLOCATION CARRIER T(3-11)(Q27.3-Q24.3) BY TRIPLE FISH
Authors: MARTINI E VONBERGH ARM COONEN E DEDIESMULDERS CEM HOPMAN AHN RAMAEKERS FCS GERAEDTS JPM
Citation: E. Martini et al., DETECTION OF STRUCTURAL ABNORMALITIES IN SPERMATOZOA OF A TRANSLOCATION CARRIER T(3-11)(Q27.3-Q24.3) BY TRIPLE FISH, Human genetics, 102(2), 1998, pp. 157-165
PREIMPLANTATION GENETIC DIAGNOSIS OF A RECIPROCAL TRANSLOCATION USINGREPETITIVE, UNIQUE AND REGION-SPECIFIC DNA PROBES
Authors: COONEN E DUMOULIN JCM MARTINI E DEDIESMULDERS CEM GERAEDTS JPM HOPMAN AHN EVERS JLH
Citation: E. Coonen et al., PREIMPLANTATION GENETIC DIAGNOSIS OF A RECIPROCAL TRANSLOCATION USINGREPETITIVE, UNIQUE AND REGION-SPECIFIC DNA PROBES, Human reproduction (Oxford. Print), 13, 1998, pp. 205-205
ANENCEPHALY IN MONOZYGOTIC TWINS AND RECURRENCE RISK
Authors: FRINTS SGM DEDIESMULDERS CEM HASAART THM
Citation: Sgm. Frints et al., ANENCEPHALY IN MONOZYGOTIC TWINS AND RECURRENCE RISK, Prenatal diagnosis, 18(8), 1998, pp. 867-868
PFEIFFER SYNDROME TYPE-2 - FURTHER DELINEATION AND REVIEW OF THE LITERATURE
Authors: PLOMP AS HAMEL BCJ COBBEN JM VERLOES A OFFERMANS JPM LAJEUNIE E FRYNS JP DEDIESMULDERS CEM
Citation: As. Plomp et al., PFEIFFER SYNDROME TYPE-2 - FURTHER DELINEATION AND REVIEW OF THE LITERATURE, American journal of medical genetics, 75(3), 1998, pp. 245-251
2 CASES OF PARTIAL TRISOMY 8P AND PARTIAL MONOSOMY 21Q IN A FAMILY WITH A RECIPROCAL TRANSLOCATION (8-21)(P21.1-Q22.3)
Authors: PLOMP AS ENGELEN JJM ALBRECHTS JCM DEDIESMULDERS CEM HAMERS AJH
Citation: As. Plomp et al., 2 CASES OF PARTIAL TRISOMY 8P AND PARTIAL MONOSOMY 21Q IN A FAMILY WITH A RECIPROCAL TRANSLOCATION (8-21)(P21.1-Q22.3), Journal of Medical Genetics, 35(7), 1998, pp. 604-608
AGE AND CAUSES OF DEATH IN ADULT-ONSET MYOTONIC-DYSTROPHY
Authors: DEDIESMULDERS CEM HOWELER CJ THIJS C MIRANDOLLE JF ANTEN HB SMEETS HJM CHANDLER KE GERAEDTS JPH
Citation: Cem. Dediesmulders et al., AGE AND CAUSES OF DEATH IN ADULT-ONSET MYOTONIC-DYSTROPHY, Brain (Print), 121, 1998, pp. 1557-1563
CONNEXIN32 GENE-MUTATIONS IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE (CMTX1)
Authors: JANSSEN EAM KEMP S HENSELS GW SIE OG DEDIESMULDERS CEM HOOGENDIJK JE DEVISSER M BOLHUIS PA
Citation: Eam. Janssen et al., CONNEXIN32 GENE-MUTATIONS IN X-LINKED DOMINANT CHARCOT-MARIE-TOOTH DISEASE (CMTX1), Human genetics, 99(4), 1997, pp. 501-505
SEVERE FEEDING PROBLEMS AND CONGENITAL LARYNGOSTENOSIS IN A PATIENT WITH 3Q23 DELETION
Authors: CHANDLER KE DEDIESMULDERS CEM ENGELEN JJM SCHRANDER JJP
Citation: Ke. Chandler et al., SEVERE FEEDING PROBLEMS AND CONGENITAL LARYNGOSTENOSIS IN A PATIENT WITH 3Q23 DELETION, European journal of pediatrics, 156(8), 1997, pp. 636-638
THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES
Authors: ZWAMBORNHANSSEN AMN BIJLSMA JB HENNEKAM EFAM LINDHOUT D BEEMER FA BAKKER E KLEIJER WJ DEFRANCE HF DEDIESMULDERS CEM DURAN M VANGENNIP AH VANMENS JT PEARSON PL MANTEL G VERHAGE RE GERAEDTS JPM
Citation: Amn. Zwambornhanssen et al., THE DUTCH UNIFORM MULTICENTER REGISTRATION SYSTEM FOR GENETIC-DISORDERS AND MALFORMATION SYNDROMES, American journal of medical genetics, 70(4), 1997, pp. 444-447
PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY
Authors: DEDIESMULDERS CEM SMEETS HJM LOOTS W ANTEN HBM MIRANDOLLE JF GERAEDTS JPM HOWELER CJ
Citation: Cem. Dediesmulders et al., PATERNAL TRANSMISSION OF CONGENITAL MYOTONIC-DYSTROPHY, Journal of Medical Genetics, 34(11), 1997, pp. 930-933
AGE AND CAUSES OF DEATH IN ADULT-ONSET MYOTONIC-DYSTROPHY
Authors: DEDIESMULDERS CEM HOWELER CJ THIJS C MIRANDOLLE JF ANTEN HB SMEETS HJM CHANDLER KE GERAEDTS JPM
Citation: Cem. Dediesmulders et al., AGE AND CAUSES OF DEATH IN ADULT-ONSET MYOTONIC-DYSTROPHY, American journal of human genetics, 61(4), 1997, pp. 531-531
PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR SPINAL MUSCULAR-ATROPHY (SMA)
Authors: DREESEN JCFM BRAS M SMEETS HJM COBBEN JM DEDIESMULDERS CEM DUMOULIN JCM EVERS JLH GERAEDTS JPM
Citation: Jcfm. Dreesen et al., PREIMPLANTATION GENETIC DIAGNOSIS (PGD) FOR SPINAL MUSCULAR-ATROPHY (SMA), American journal of human genetics, 61(4), 1997, pp. 867-867
11Q DUPLICATION IN A PATIENT WITH PITT-ROGERS-DANKS PHENOTYPE
Authors: DEDIESMULDERS CEM ENGELEN JJM
Citation: Cem. Dediesmulders et Jjm. Engelen, 11Q DUPLICATION IN A PATIENT WITH PITT-ROGERS-DANKS PHENOTYPE, American journal of medical genetics, 66(1), 1996, pp. 116-117
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
SEVERE LIMB DEFECTS AND CRANIOFACIAL ANOMALIES IN A FETUS CONCEIVED DURING ACITRETIN THERAPY
Authors: DEDIESMULDERS CEM STURKENBOOM MCJM VERAART J VANKATWIJK G SASTROWIJOTO P VANDERLINDEN E
Citation: Cem. Dediesmulders et al., SEVERE LIMB DEFECTS AND CRANIOFACIAL ANOMALIES IN A FETUS CONCEIVED DURING ACITRETIN THERAPY, Teratology, 52(4), 1995, pp. 215-219
FAMILIAL PARTIAL TRISOMY-8P WITHOUT DYSMORPHIC FEATURES AND ONLY MILDMENTAL-RETARDATION
Authors: ENGELEN JJM DEDIESMULDERS CEM SIJSTERMANS JMJ MEERS LEC ALBRECHTS JCM HAMERS AJH
Citation: Jjm. Engelen et al., FAMILIAL PARTIAL TRISOMY-8P WITHOUT DYSMORPHIC FEATURES AND ONLY MILDMENTAL-RETARDATION, Journal of Medical Genetics, 32(10), 1995, pp. 792-795
UNIFORM GENETIC DIAGNOSIS CODE REGISTRATION
Authors: GERAEDTS JPM BIJLSMA MB HENNEKAM FAM LINDHOUT D BEEMER FA BAKKER E KLEIJER WJ DEFRANCE HF DEDIESMULDERS CEM DURAN M VANGENNIP AH VANMENS JT MANTEL G VERHAGE RE ZWAMBORNHANSSEN AMN
Citation: Jpm. Geraedts et al., UNIFORM GENETIC DIAGNOSIS CODE REGISTRATION, American journal of human genetics, 57(4), 1995, pp. 491-491
INSTABILITY OF THE CGG REPEAT AND EXPRESSION OF THE FMR1 PROTEIN IN AMALE FRAGILE-X PATIENT WITH A LUNG-TUMOR
Authors: DEGRAAFF E WILLEMSEN R ZHONG N DEDIESMULDERS CEM BROWN WT FRELING G OOSTRA B
Citation: E. Degraaff et al., INSTABILITY OF THE CGG REPEAT AND EXPRESSION OF THE FMR1 PROTEIN IN AMALE FRAGILE-X PATIENT WITH A LUNG-TUMOR, American journal of human genetics, 57(3), 1995, pp. 609-618
A DELETION OF 1.6 KB PROXIMAL TO THE CGG REPEAT OF THE FMR1 GENE CAUSES THE CLINICAL PHENOTYPE OF THE FRAGILE X SYNDROME
Authors: MEIJER H DEGRAAFF E MERCKX DML JONGBLOED RJE DEDIESMULDERS CEM ENGELEN JJM FRYNS JP CURFS PMG OOSTRA BA
Citation: H. Meijer et al., A DELETION OF 1.6 KB PROXIMAL TO THE CGG REPEAT OF THE FMR1 GENE CAUSES THE CLINICAL PHENOTYPE OF THE FRAGILE X SYNDROME, Human molecular genetics, 3(4), 1994, pp. 615-620
HUMAN PARVOVIRUS-B19 INFECTION AND UNBALANCED TRANSLOCATION IN A CASEOF HYDROPS-FETALIS
Authors: WILLEKES C ROUMEN FJME VANELSACKERNIELE AMW WEILAND HT VERMEYKEERS C VANKRIEKEN JHJM DEDIESMULDERS CEM HAMERS GJH VAESPETERS GPM
Citation: C. Willekes et al., HUMAN PARVOVIRUS-B19 INFECTION AND UNBALANCED TRANSLOCATION IN A CASEOF HYDROPS-FETALIS, Prenatal diagnosis, 14(3), 1994, pp. 181-185
ANTICIPATION RESULTING IN ELIMINATION OF THE MYOTONIC-DYSTROPHY GENE - A FOLLOW-UP-STUDY OF ONE EXTENDED FAMILY
Authors: DEDIESMULDERS CEM HOWELER CJ MIRANDOLLE JF BRUNNER HG HOVERS V BRUGGENWIRTH H SMEETS HJM GERAEDTS JPM
Citation: Cem. Dediesmulders et al., ANTICIPATION RESULTING IN ELIMINATION OF THE MYOTONIC-DYSTROPHY GENE - A FOLLOW-UP-STUDY OF ONE EXTENDED FAMILY, Journal of Medical Genetics, 31(8), 1994, pp. 595-601
GENETIC-HETEROGENEITY IN RIEGER EYE MALFORMATION
Authors: LEGIUS E DEDIESMULDERS CEM VERBRAAK F HABEX H DECORTE R MARYNEN P FRYNS JP CASSIMAN JJ
Citation: E. Legius et al., GENETIC-HETEROGENEITY IN RIEGER EYE MALFORMATION, Journal of Medical Genetics, 31(4), 1994, pp. 340-341
PARTIAL TRISOMY OF THE SHORT ARM OF CHROMOSOME-18 DUE TO INVERSION DUPLICATION AND DIRECT DUPLICATION
Authors: MOOG U ENGELEN JJM DEDIESMULDERS CEM ALBRECHTS JCM LONEUS WH HAAGEN AAM RAVEN EJM HAMERS AJH
Citation: U. Moog et al., PARTIAL TRISOMY OF THE SHORT ARM OF CHROMOSOME-18 DUE TO INVERSION DUPLICATION AND DIRECT DUPLICATION, Clinical genetics, 46(6), 1994, pp. 423-429
PARTIAL TRISOMY AND MONOSOMY 8P DUE TO INVERSION DUPLICATION
Authors: ENGELEN JJM DEDIESMULDERS CEM FRYNS JP HOOVERS JMN ALBRECHTS JCM LOOTS WJG JACOBS ME HAMERS AJH
Citation: Jjm. Engelen et al., PARTIAL TRISOMY AND MONOSOMY 8P DUE TO INVERSION DUPLICATION, Clinical genetics, 45(4), 1994, pp. 203-207
MOSAIC EXPRESSION OF HYPOHIDROTIC ECTODERMAL DYSPLASIA IN AN ISOLATEDAFFECTED FEMALE CHILD
Authors: BARTSTRA HLJ HULSMANS RFHJ STEIJLEN PM RUIGE M DEDIESMULDERS CEM CASSIMAN JJ
Citation: Hlj. Bartstra et al., MOSAIC EXPRESSION OF HYPOHIDROTIC ECTODERMAL DYSPLASIA IN AN ISOLATEDAFFECTED FEMALE CHILD, Archives of dermatology, 130(11), 1994, pp. 1421-1424
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