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Results: 1-20 |
Results: 20
THE VASCULAR TYPE OF THE EHLERS-DANLOS-SYNDROME - UPDATE ON THE CORRELATION BETWEEN MOLECULAR AND PHENOTYPIC FINDINGS
Authors: NUYTINCK L DEVOS M DEPAEPE A
Citation: L. Nuytinck et al., THE VASCULAR TYPE OF THE EHLERS-DANLOS-SYNDROME - UPDATE ON THE CORRELATION BETWEEN MOLECULAR AND PHENOTYPIC FINDINGS, European journal of human genetics, 6, 1998, pp. 1094-1094
A DE-NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-7 - A CASE-REPORT
Authors: COURTENS W MESSIAEN L NUYTINCK L SPELEMAN F VAMOS E
Citation: W. Courtens et al., A DE-NOVO INTERSTITIAL DELETION OF THE LONG ARM OF CHROMOSOME-7 - A CASE-REPORT, European journal of human genetics, 6, 1998, pp. 2008-2008
THE BIOCHEMICAL AND MOLECULAR-BASIS OF MILD OSTEOGENESIS IMPERFECTA
Authors: NUYTINCK L VANTHIELEN M DEPAEPE A
Citation: L. Nuytinck et al., THE BIOCHEMICAL AND MOLECULAR-BASIS OF MILD OSTEOGENESIS IMPERFECTA, European journal of human genetics, 6, 1998, pp. 5002-5002
A 4 BASE-PAIR INSERTION POLYMORPHISM IN THE 3'-UNTRANSLATED REGION OFTHE COL1A1 GENE IS HIGHLY INFORMATIVE FOR NULL-ALLELE TESTING IN PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I
Authors: NUYTINCK L COPPIN C DEPAEPE A
Citation: L. Nuytinck et al., A 4 BASE-PAIR INSERTION POLYMORPHISM IN THE 3'-UNTRANSLATED REGION OFTHE COL1A1 GENE IS HIGHLY INFORMATIVE FOR NULL-ALLELE TESTING IN PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I, Matrix biology, 16(6), 1998, pp. 349-352
MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE
Authors: COLLODBEROUD G BEROUD C ADES L BLACK C BOXER M BROCKS DJH HOLMAN KJ DEPAEPE A FRANCKE U GRAU U HAYWARD C KLEIN HG LIU WG NUYTINCK L PELTONEN L PEREZ ABA RANTAMAKI T JUNIEN C BOILEAU C
Citation: G. Collodberoud et al., MARFAN-DATABASE (3RD EDITION) - NEW MUTATIONS AND NEW ROUTINES FOR THE SOFTWARE, Nucleic acids research, 26(1), 1998, pp. 229-233
BRUCK-SYNDROME - NEONATAL PRESENTATION AND NATURAL COURSE IN 3 PATIENTS
Authors: LEROY JG NUYTINCK L DEPAEPE A DERAMMELAERE M GILLEROT Y VERLOES A LOEYS B DEGROOTE W
Citation: Jg. Leroy et al., BRUCK-SYNDROME - NEONATAL PRESENTATION AND NATURAL COURSE IN 3 PATIENTS, Pediatric radiology, 28(10), 1998, pp. 781-789
DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM
Authors: BRIGGS MD MORTIER GR COLE WG KING LM GOLIK SS BONAVENTURE J NUYTINCK L DEPAEPE A LEROY JG BIESECKER L LIPSON M WILCOX WR LACHMAN RS RIMOIN DL KNOWLTON RG COHN DH
Citation: Md. Briggs et al., DIVERSE MUTATIONS IN THE GENE FOR CARTILAGE OLIGOMERIC MATRIX PROTEININ THE PSEUDOACHONDROPLASIA MULTIPLE EPIPHYSEAL DYSPLASIA DISEASE SPECTRUM, American journal of human genetics, 62(2), 1998, pp. 311-319
ANALYSIS OF THE COL1A1 AND COL1A2 GENES BY PCR AMPLIFICATION AND SCANNING BY CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS IDENTIFIES ONLY COL1A1 MUTATIONS IN 15 PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I - IDENTIFICATION OF COMMON SEQUENCES OF NULL-ALLELE MUTATIONS
Authors: KORKKO J ALAKOKKO L DEPAEPE A NUYTINCK L EARLEY J PROCKOP DJ
Citation: J. Korkko et al., ANALYSIS OF THE COL1A1 AND COL1A2 GENES BY PCR AMPLIFICATION AND SCANNING BY CONFORMATION-SENSITIVE GEL-ELECTROPHORESIS IDENTIFIES ONLY COL1A1 MUTATIONS IN 15 PATIENTS WITH OSTEOGENESIS IMPERFECTA TYPE-I - IDENTIFICATION OF COMMON SEQUENCES OF NULL-ALLELE MUTATIONS, American journal of human genetics, 62(1), 1998, pp. 98-110
OSTEOGENESIS IMPERFECTS PHENOTYPES RESULTING FROM SERINE FOR GLYCINE SUBSTITUTIONS IN THE ALPHA-2(I) COLLAGEN CHAIN
Authors: NUYTINCK L WETTINCK K FREUND M VANMALDERGEM L FABRY G DEPAEPE A
Citation: L. Nuytinck et al., OSTEOGENESIS IMPERFECTS PHENOTYPES RESULTING FROM SERINE FOR GLYCINE SUBSTITUTIONS IN THE ALPHA-2(I) COLLAGEN CHAIN, European journal of human genetics, 5(3), 1997, pp. 161-167
A PROBABLE CASE OF WIEDEMANN-RAUTENSTRAUCH SYNDROME OR NEONATAL PROGEROID SYNDROME AND REVIEW OF THE LITERATURE
Authors: COURTENS W NUYTINCK L FRICX C ANDRE J VAMOS E
Citation: W. Courtens et al., A PROBABLE CASE OF WIEDEMANN-RAUTENSTRAUCH SYNDROME OR NEONATAL PROGEROID SYNDROME AND REVIEW OF THE LITERATURE, Clinical dysmorphology, 6(3), 1997, pp. 219-227
HOMOZYGOSITY BY DESCENT FOR A COL1A2 MUTATION IN 2 SIBS WITH SEVERE OSTEOGENESIS IMPERFECTA AND MILD CLINICAL EXPRESSION IN THE HETEROZYGOTES
Authors: DEPAEPE A NUYTINCK L RAES M FRYNS JP
Citation: A. Depaepe et al., HOMOZYGOSITY BY DESCENT FOR A COL1A2 MUTATION IN 2 SIBS WITH SEVERE OSTEOGENESIS IMPERFECTA AND MILD CLINICAL EXPRESSION IN THE HETEROZYGOTES, Human genetics, 99(4), 1997, pp. 478-483
CORRELATION OF ULTRASTRUCTURAL COLLAGEN FIBRIL ABERRATIONS WITH A MUTATION IN THE COL5A1 GENE IN EHLERS-DANLOS-SYNDROME TYPE-I
Authors: HAUSSER I DEPAEPE A NUYTINCK L NAEYAERT JM ANTONLAMPRECHT I
Citation: I. Hausser et al., CORRELATION OF ULTRASTRUCTURAL COLLAGEN FIBRIL ABERRATIONS WITH A MUTATION IN THE COL5A1 GENE IN EHLERS-DANLOS-SYNDROME TYPE-I, Journal of investigative dermatology, 109(3), 1997, pp. 472-472
MUTATIONS IN THE COL5A1 GENE ARE CAUSAL IN THE EHLERS-DANLOS-SYNDROME-I AND EHLERS-DANLOS-SYNDROME-II
Authors: DEPAEPE A NUYTINCK L HAUSSER I ANTONLAMPRECHT I NAEYAERT JM
Citation: A. Depaepe et al., MUTATIONS IN THE COL5A1 GENE ARE CAUSAL IN THE EHLERS-DANLOS-SYNDROME-I AND EHLERS-DANLOS-SYNDROME-II, American journal of human genetics, 60(3), 1997, pp. 547-554
SUBSTITUTION OF GLYCINE-661 BY SERINE IN THE ALPHA-1(I) AND ALPHA-2(I) CHAINS OF TYPE-I COLLAGEN RESULTS IN DIFFERENT CLINICAL AND BIOCHEMICAL PHENOTYPES
Authors: NUYTINCK L DALGLEISH R SPOTILA L RENARD JP VANREGEMORTER N DEPAEPE A
Citation: L. Nuytinck et al., SUBSTITUTION OF GLYCINE-661 BY SERINE IN THE ALPHA-1(I) AND ALPHA-2(I) CHAINS OF TYPE-I COLLAGEN RESULTS IN DIFFERENT CLINICAL AND BIOCHEMICAL PHENOTYPES, Human genetics, 97(3), 1996, pp. 324-329
SUBSTITUTION OF VALINE FOR GLYCINE-793 IN TYPE-III PROCOLLAGEN IN EHLERS-DANLOS-SYNDROME TYPE-IV
Authors: TROMP G DEPAEPE A NUYTINCK L MADHATHERI S KUIVANIEMI H
Citation: G. Tromp et al., SUBSTITUTION OF VALINE FOR GLYCINE-793 IN TYPE-III PROCOLLAGEN IN EHLERS-DANLOS-SYNDROME TYPE-IV, Human mutation, 5(2), 1995, pp. 179-181
GENETIC-LINKAGE BETWEEN THE COLLAGEN TYPE-VII GENE COL7A1 AND PRETIBIAL EPIDERMOLYSIS-BULLOSA WITH LICHENOID FEATURES
Authors: NAEYAERT JM NUYTINCK L DEBIE S BEELE H KINT A DEPAEPE A
Citation: Jm. Naeyaert et al., GENETIC-LINKAGE BETWEEN THE COLLAGEN TYPE-VII GENE COL7A1 AND PRETIBIAL EPIDERMOLYSIS-BULLOSA WITH LICHENOID FEATURES, Journal of investigative dermatology, 104(5), 1995, pp. 803-805
SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS OF THE COL3A1GENE DETECTS A MUTATION THAT RESULTS IN THE SUBSTITUTION OF GLYCINE-1009 TO VALINE AND CAUSES SEVERE EHLERS-DANLOS SYNDROME TYPE-IV
Authors: NUYTINCK L DEPAEPE A RENARD JP ADRIAENS F LEROY J
Citation: L. Nuytinck et al., SINGLE-STRAND CONFORMATION POLYMORPHISM (SSCP) ANALYSIS OF THE COL3A1GENE DETECTS A MUTATION THAT RESULTS IN THE SUBSTITUTION OF GLYCINE-1009 TO VALINE AND CAUSES SEVERE EHLERS-DANLOS SYNDROME TYPE-IV, Human mutation, 3(3), 1994, pp. 268-274
SUBSTITUTION OF GLYCINE-172 BY ARGININE IN THE ALPHA-1 CHAIN OF TYPE-I COLLAGEN IN A PATIENT WITH OSTEOGENESIS IMPERFECTA, TYPE-III
Authors: MACKAY K DEPAEPE A NUYTINCK L DALGLEISH R
Citation: K. Mackay et al., SUBSTITUTION OF GLYCINE-172 BY ARGININE IN THE ALPHA-1 CHAIN OF TYPE-I COLLAGEN IN A PATIENT WITH OSTEOGENESIS IMPERFECTA, TYPE-III, Human mutation, 3(3), 1994, pp. 324-326
CHARACTERIZATION OF A GLYCINE 769 TO SERINE SUBSTITUTION IN COLLAGEN TYPE-III IN A 3 GENERATION FAMILY WITH ATYPICAL EDS IV
Authors: DEPAEPE A NUYTINCK L LEROY J
Citation: A. Depaepe et al., CHARACTERIZATION OF A GLYCINE 769 TO SERINE SUBSTITUTION IN COLLAGEN TYPE-III IN A 3 GENERATION FAMILY WITH ATYPICAL EDS IV, American journal of human genetics, 53(3), 1993, pp. 1150-1150
SUBSTITUTION OF GLYCINE-1009 FOR SERINE IN COLLAGEN TYPE-III - FURTHER EVIDENCE THAT MUTATIONS CLOSE TO THE C-TERMINAL END OF THE HELIX PRODUCE A SEVERE EDS IV-PHENOTYPE
Authors: LEROY J NUYTINCK L RENARD JP DEPAEPEL A
Citation: J. Leroy et al., SUBSTITUTION OF GLYCINE-1009 FOR SERINE IN COLLAGEN TYPE-III - FURTHER EVIDENCE THAT MUTATIONS CLOSE TO THE C-TERMINAL END OF THE HELIX PRODUCE A SEVERE EDS IV-PHENOTYPE, American journal of human genetics, 53(3), 1993, pp. 1735-1735
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