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Results: 1-25 |
Results: 25
PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY
Authors: DREESEN JCFM BRAS M DEDIESMULDERS C DUMOULIN JCM COBBEN JM EVERS JLH SMEETS HJM GERAEDTS JPM
Citation: Jcfm. Dreesen et al., PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY, Molecular human reproduction (Print), 4(9), 1998, pp. 881-885
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
KARSCH-NEUGEBAUER-SYNDROME IN 2 SIBS WITH UNAFFECTED PARENTS
Authors: WONG SC COBBEN JM HIEMSTRA S ROBINSON PH HEEG M
Citation: Sc. Wong et al., KARSCH-NEUGEBAUER-SYNDROME IN 2 SIBS WITH UNAFFECTED PARENTS, American journal of medical genetics, 75(2), 1998, pp. 207-210
DEVELOPMENT OF PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY
Authors: DREESEN JCFM BRAS M SMEETS HJM COBBEN JM DEDIESMULDERS C DUMOULIN JCM EVERS JLH GERAEDTS JPM
Citation: Jcfm. Dreesen et al., DEVELOPMENT OF PREIMPLANTATION GENETIC DIAGNOSIS OF SPINAL MUSCULAR-ATROPHY, Human reproduction, 12, 1997, pp. 144-144
OCULOCEREBROCUTANEOUS SYNDROME - REPORT OF 3 ADDITIONAL CASES AND ETIOLOGIC CONSIDERATIONS
Authors: MOOG U DEDIESMULDERS C SYSTERMANS JMJ COBBEN JM
Citation: U. Moog et al., OCULOCEREBROCUTANEOUS SYNDROME - REPORT OF 3 ADDITIONAL CASES AND ETIOLOGIC CONSIDERATIONS, Clinical genetics, 52(4), 1997, pp. 219-225
ON THE MANY FACES OF LEBER HEREDITARY OPTIC NEUROPATHY
Authors: OOSTRA RJ TIJMES NT COBBEN JM BOLHUIS PA VANNESSELROOIJ BPM HOUTMAN WA DEKOKNAZARUK MM BLEEKERWAGEMAKERS EM
Citation: Rj. Oostra et al., ON THE MANY FACES OF LEBER HEREDITARY OPTIC NEUROPATHY, Clinical genetics, 51(6), 1997, pp. 388-393
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
PRENATAL PREDICTION OF SPINAL MUSCULAR-ATROPHY - EXPERIENCE WITH LINKAGE STUDIES AND CONSEQUENCES OF PRESENT SMN DELETION ANALYSIS
Authors: COBBEN JM SCHEFFER H DEVISSER M VANDERSTEEGE G VERHEY JBBM OSINGA J BURTON M MENSINK RGJ GROOTSCHOLTEN PM TENKATE LP BUYS CHCM
Citation: Jm. Cobben et al., PRENATAL PREDICTION OF SPINAL MUSCULAR-ATROPHY - EXPERIENCE WITH LINKAGE STUDIES AND CONSEQUENCES OF PRESENT SMN DELETION ANALYSIS, European journal of human genetics, 4(4), 1996, pp. 231-236
CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT
Authors: CRACKOWER MA SCHERER SW ROMMENS JM HUI CC POORKAJ P SODER S COBBEN JM HUDGINS L EVANS JP TSUI LC
Citation: Ma. Crackower et al., CHARACTERIZATION OF THE SPLIT HAND SPLIT FOOT MALFORMATION LOCUS SHFM1 AT 7Q21.3-Q22.1 AND ANALYSIS OF A CANDIDATE GENE FOR ITS EXPRESSION DURING LIMB DEVELOPMENT, Human molecular genetics, 5(5), 1996, pp. 571-579
THE EEC-SYNDROME - A LITERATURE STUDY
Authors: ROELFSEMA NM COBBEN JM
Citation: Nm. Roelfsema et Jm. Cobben, THE EEC-SYNDROME - A LITERATURE STUDY, Clinical dysmorphology, 5(2), 1996, pp. 115-127
APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5
Authors: VANDERSTEEGE G GROOTSCHOLTEN PM COBBEN JM ZAPPATA S SCHEFFER H DENDUNNEN JT VANOMMEN GJB BRAHE C BUYS CHCM
Citation: G. Vandersteege et al., APPARENT GENE CONVERSIONS INVOLVING THE SMN GENE IN THE REGION OF THESPINAL MUSCULAR-ATROPHY LOCUS ON CHROMOSOME-5, American journal of human genetics, 59(4), 1996, pp. 834-838
A SUBLOCUS OF THE MULTICOPY MICROSATELLITE MARKER CMS1 MAPS PROXIMAL TO SPINAL MUSCULAR-ATROPHY (SMA) AS SHOWN BY RECOMBINANT ANALYSIS
Authors: VANDERSTEEGE G COBBEN JM OSINGA J SCHEFFER H VANOMMEN GJB BUYS CHCM
Citation: G. Vandersteege et al., A SUBLOCUS OF THE MULTICOPY MICROSATELLITE MARKER CMS1 MAPS PROXIMAL TO SPINAL MUSCULAR-ATROPHY (SMA) AS SHOWN BY RECOMBINANT ANALYSIS, Human genetics, 96(5), 1995, pp. 589-591
TRISOMY 1Q42-]QTER IN A SISTER AND BROTHER - FURTHER DELINEATION OF THE TRISOMY 1Q42-]QTER SYNDROME
Authors: VERSCHUURENBEMELMANS CC LEEGTE B HODENIUS TMJ COBBEN JM
Citation: Cc. Verschuurenbemelmans et al., TRISOMY 1Q42-]QTER IN A SISTER AND BROTHER - FURTHER DELINEATION OF THE TRISOMY 1Q42-]QTER SYNDROME, American journal of medical genetics, 58(1), 1995, pp. 83-86
SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY
Authors: BURGLEN L SPIEGEL R IGNATIUS J COBBEN JM LANDRIEU P LEFEBVRE S MUNNICH A MELKI J
Citation: L. Burglen et al., SMN GENE DELETION IN VARIANT OF INFANTILE SPINAL MUSCULAR-ATROPHY, Lancet, 346(8970), 1995, pp. 316-317
PCR-BASED DMA TEST TO CONFIRM CLINICAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY
Authors: VANDERSTEEGE G GROOTSCHOLTEN PM VANDERVLIES P DRAAIJERS TG OSINGA J COBBEN JM SCHEFFER H BUYS CHCM
Citation: G. Vandersteege et al., PCR-BASED DMA TEST TO CONFIRM CLINICAL-DIAGNOSIS OF AUTOSOMAL RECESSIVE SPINAL MUSCULAR-ATROPHY, Lancet, 345(8955), 1995, pp. 985-986
BILATERAL SPLIT HAND FOOT MALFORMATION AND INV(7)(P22Q21.3)
Authors: COBBEN JM VERHEIJ JBGM EISMA WH ROBINSON PH ZWIERSTRA RP LEEGTE B CASTEDO S
Citation: Jm. Cobben et al., BILATERAL SPLIT HAND FOOT MALFORMATION AND INV(7)(P22Q21.3), Journal of Medical Genetics, 32(5), 1995, pp. 375-378
VARIABLE EXPRESSION OF THE POPLITEAL PTERYGIUM SYNDROME IN 2 3-GENERATION FAMILIES
Authors: SOEKARMAN D COBBEN JM VOGELS A SPAUWEN PH FRYNS JP
Citation: D. Soekarman et al., VARIABLE EXPRESSION OF THE POPLITEAL PTERYGIUM SYNDROME IN 2 3-GENERATION FAMILIES, Clinical genetics, 47(4), 1995, pp. 169-174
DELETIONS OF THE SURVIVAL MOTOR-NEURON (SMN) GENE IN UNAFFECTED SIBLINGS OF PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA)
Authors: VANDERSTEEGE G GROOTSCHOLTEN PM COBBEN JM SCHEFFER H BUYS CHCM
Citation: G. Vandersteege et al., DELETIONS OF THE SURVIVAL MOTOR-NEURON (SMN) GENE IN UNAFFECTED SIBLINGS OF PATIENTS WITH SPINAL MUSCULAR-ATROPHY (SMA), American journal of human genetics, 57(4), 1995, pp. 1337-1337
DELETIONS OF THE SURVIVAL MOTOR-NEURON GENE IN UNAFFECTED SIBLINGS OFPATIENTS WITH SPINAL MUSCULAR-ATROPHY
Authors: COBBEN JM VANDERSTEEGE G GROOTSCHOLTEN P DEVISSER M SCHEFFER H BUYS CHCM
Citation: Jm. Cobben et al., DELETIONS OF THE SURVIVAL MOTOR-NEURON GENE IN UNAFFECTED SIBLINGS OFPATIENTS WITH SPINAL MUSCULAR-ATROPHY, American journal of human genetics, 57(4), 1995, pp. 805-808
THE POPLITEAL PTERYGIUM SYNDROME - AN ANALYSIS OF 2 FAMILIES
Authors: SPAUWEN PHM COBBEN JM GARDENIERS JWM
Citation: Phm. Spauwen et al., THE POPLITEAL PTERYGIUM SYNDROME - AN ANALYSIS OF 2 FAMILIES, Journal of cranio-maxillo-facial surgery, 22(5), 1994, pp. 276-280
THE POPLITEAL PTERYGIUM SYNDROME - AN ANALYSIS OF 2 FAMILIES
Authors: SPAUWEN PHM COBBEN JM GARDENIERS JWM
Citation: Phm. Spauwen et al., THE POPLITEAL PTERYGIUM SYNDROME - AN ANALYSIS OF 2 FAMILIES, Journal of cranio-maxillo-facial surgery, 22(5), 1994, pp. 276-280
2 NEW MUTATIONS AFFECTING THE DONOR SPLICE-SITE OF COL3A1 IVS37 AND CAUSING SKIPPING OF EXON-37 IN PATIENTS WITH EHLERS-DANLOS-SYNDROME TYPE-IV
Authors: RICHARDS AJ NARCISI P FERGUSON C COBBEN JM POPE FM
Citation: Aj. Richards et al., 2 NEW MUTATIONS AFFECTING THE DONOR SPLICE-SITE OF COL3A1 IVS37 AND CAUSING SKIPPING OF EXON-37 IN PATIENTS WITH EHLERS-DANLOS-SYNDROME TYPE-IV, Human molecular genetics, 3(10), 1994, pp. 1901-1902
IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES
Authors: VANDERSTEEGE G COBBEN JM BRAHE C OSINGA J ZAPPATA S SCHEFFER H NERI G VANOMMEN GJB BUYS CHCM TENKATE LP
Citation: G. Vandersteege et al., IDENTIFICATION OF KEY RECOMBINANTS IN MULTIPLEX SMA FAMILIES, Genomics, 22(1), 1994, pp. 219-222
LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE
Authors: BURGHES AHM INGRAHAM SE KOTEJARAI Z ROSENFELD S HERTA N NADKARNI N DIDONATO CJ CARPTEN J HURKO O FLORENCE J MOXLEY RT COBBEN JM MENDELL JR
Citation: Ahm. Burghes et al., LINKAGE MAPPING OF THE SPINAL MUSCULAR-ATROPHY GENE, Human genetics, 93(3), 1994, pp. 305-312
APPARENT SMA-I UNLINKED TO 5Q
Authors: COBBEN JM SCHEFFER H DEVISSER M BEGEER JH MOLENAAR WM VANDERSTEEGE G BUYS CHCM VANOMMEN GJ TENKATE LP
Citation: Jm. Cobben et al., APPARENT SMA-I UNLINKED TO 5Q, Journal of Medical Genetics, 31(3), 1994, pp. 242-244
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