Sx ehlers danlos

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ARTICULOS RELACIONADOS CON SX EHLERS DANLOS

Health & Medicine

ARTICULO 1
Ehlers-Danlossíndrome
Colige A,NuytinckL,HausserI,van EssenAJ,ThiryM, HerensC,AdèsLC, MalfaitF, Paepe AD,
Franck P,Wolff G, OosterwijkJC,SmittJH,Lapière CM,NusgensBV.Novel typesof mutation
responsible forthe dermatosparactictype of Ehlers-Danlossyndrome(Type VIIC)andcommon
polymorphismsinthe ADAMTS2gene.JInvestDermatol.2004 Oct;123(4):656-63. doi:
10.1111/j.0022-202X.2004.23406.x. PMID: 15373769.

ARTICULO 2
Colige A,SieronAL,Li SW, Schwarze U, PettyE, Wertelecki W,Wilcox W,Krakow D,CohnDH,
ReardonW, ByersPH, Lapière CM,ProckopDJ, NusgensBV.HumanEhlers-Danlossyndrome type
VIIC and bovine dermatosparaxisare causedbymutationsinthe procollagenIN-proteinase gene.
Am J HumGenet.1999 Aug;65(2):308-17. doi:10.1086/302504. PMID: 10417273; PMCID:
PMC1377929.

ARTICULO 3
Colige A,VandenbergheI,ThiryM, LambertCA, VanBeeumenJ,Li SW, ProckopDJ,Lapiere CM,
NusgensBV.Cloningandcharacterizationof ADAMTS-14,anovel ADAMTSdisplayinghigh
homologywithADAMTS-2andADAMTS-3. J Biol Chem.2002 Feb22;277(8):5756-66. doi:
10.1074/jbc.M105601200. Epub2001 Dec 7. PMID: 11741898.

ARTICULO 4
MejiasQuinteroMileidyEgleet,SalemSalemHaidar.OsteogénesisImperfecta.A propósitode un
caso tipoII.Rev.chil.obstet.ginecol. [Internet].2018 Feb[citado 2021 Mar 06] ; 83( 1 ): 86-92.
Disponibleen:https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0717-
75262018000100086&lng=es. http://dx.doi.org/10.4067/s0717-75262018000100086.

ARTICULO 5
PollittR,McMahon R, NunnJ, BamfordR, Afifi A,BishopN,DaltonA.Mutationanalysisof COL1A1
and COL1A2 in patientsdiagnosedwithosteogenesisimperfectatype I-IV.HumMutat.2006
Jul;27(7):716. doi:10.1002/humu.9430. PMID: 16786509.

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Sx ehlers danlos

1. ARTICULO 1 Ehlers-Danlossíndrome Colige A,NuytinckL,HausserI,van EssenAJ,ThiryM, HerensC,AdèsLC, MalfaitF, Paepe AD, Franck P,Wolff G, OosterwijkJC,SmittJH,Lapière CM,NusgensBV.Novel typesof mutation responsible forthe dermatosparactictype of Ehlers-Danlossyndrome(Type VIIC)andcommon polymorphismsinthe ADAMTS2gene.JInvestDermatol.2004 Oct;123(4):656-63. doi: 10.1111/j.0022-202X.2004.23406.x. PMID: 15373769.

2. ARTICULO 2 Colige A,SieronAL,Li SW, Schwarze U, PettyE, Wertelecki W,Wilcox W,Krakow D,CohnDH, ReardonW, ByersPH, Lapière CM,ProckopDJ, NusgensBV.HumanEhlers-Danlossyndrome type VIIC and bovine dermatosparaxisare causedbymutationsinthe procollagenIN-proteinase gene. Am J HumGenet.1999 Aug;65(2):308-17. doi:10.1086/302504. PMID: 10417273; PMCID: PMC1377929.

3. ARTICULO 3 Colige A,VandenbergheI,ThiryM, LambertCA, VanBeeumenJ,Li SW, ProckopDJ,Lapiere CM, NusgensBV.Cloningandcharacterizationof ADAMTS-14,anovel ADAMTSdisplayinghigh homologywithADAMTS-2andADAMTS-3. J Biol Chem.2002 Feb22;277(8):5756-66. doi: 10.1074/jbc.M105601200. Epub2001 Dec 7. PMID: 11741898.

4. ARTICULO 4 MejiasQuinteroMileidyEgleet,SalemSalemHaidar.OsteogénesisImperfecta.A propósitode un caso tipoII.Rev.chil.obstet.ginecol. [Internet].2018 Feb[citado 2021 Mar 06] ; 83( 1 ): 86-92. Disponibleen:https://scielo.conicyt.cl/scielo.php?script=sci_arttext&pid=S0717- 75262018000100086&lng=es. http://dx.doi.org/10.4067/s0717-75262018000100086.

5. ARTICULO 5 PollittR,McMahon R, NunnJ, BamfordR, Afifi A,BishopN,DaltonA.Mutationanalysisof COL1A1 and COL1A2 in patientsdiagnosedwithosteogenesisimperfectatype I-IV.HumMutat.2006 Jul;27(7):716. doi:10.1002/humu.9430. PMID: 16786509.