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Dwyer E, Hyland J, Modaff P, Pauli RM. Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family. Am J Med Genet A. 2010; 152 a (12): 3043-50. Dwyer E Hyland J Modaff P Pauli RM . Genotype-phenotype correlation in DTDST dysplasias: Atelosteogenesis type II and diastrophic dysplasia variant in one family . Am J Med Genet A. 2010 ; 152 a ( 12 ): 3043 - 50 . Search in Google Scholar

Szczepaniak-Kubat A, Tesiorowski M, Merc-Gołebiowska Z, Jakubowska-Pietkiewicz E. Diastrophic dysplasia in a seven-year-old girl. Case study. Ortop Traumatol Rehabil. 2010 May-Jun;12(3): 257-63 Szczepaniak-Kubat A Tesiorowski M Merc-Gołebiowska Z Jakubowska-Pietkiewicz E . Diastrophic dysplasia in a seven-year-old girl. Case study . Ortop Traumatol Rehabil. 2010 May-Jun ; 12 ( 3 ): 257 - 63 Search in Google Scholar

Pineda T, Rossi A, Bonafè L, Superti-Furga A, Velasco Harv M. Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia. Revista de la Facultad de Medicina. 2013; 61(3): 255-259. Pineda T Rossi A Bonafè L Superti-Furga A Velasco Harv M . Report of a novel mutation in the SLC26A2 gene found in a Colombian adult patient with diastrophic dysplasia . Revista de la Facultad de Medicina. 2013 ; 61 ( 3 ): 255 - 259 . Search in Google Scholar

Diastrophic Dysplasia. In: Adam MP, Ardinger HH, Pagon RA, et al., University of Washington, Seattle; 2013: 1993-2021. Diastrophic Dysplasia . In: Adam MP Ardinger HH Pagon RA , University of Washington , Seattle ; 2013 : 1993 - 2021 . Search in Google Scholar

Farooq Ahamdb, Muhammad Bilalb, Abdulaziz Asiria, Muhammad Younusc, Amjad Khand. A Comprehensive review of genetic skeletal disorders reported from Pakistan: A brief commentary. Meta Gene. 2019; 2: 100559. Ahamdb Farooq Bilalb Muhammad Asiria Abdulaziz Younusc Muhammad Khand Amjad . A Comprehensive review of genetic skeletal disorders reported from Pakistan: A brief commentary . Meta Gene. 2019 ; 2 : 100559 . Search in Google Scholar

Honório J; Bruns R, Gründtner L, Raskin S, Ferrari L, Júnior E, Nardozza L, Diastrophic dysplasia: Prenatal diagnosis and review of the literature. Sao Paulo Med. J. 2013, 131, 127–132. Honório J Bruns R Gründtner L Raskin S Ferrari L Júnior E Nardozza L Diastrophic dysplasia: Prenatal diagnosis and review of the literature . Sao Paulo Med. J. 2013 , 131 , 127 132 . Search in Google Scholar

Zheng C. Lin X. Xu X. Wang C. Zhou J. Gao B. et al. Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias. EBioMedicine 2019; 40: 695–709. Zheng C. Lin X. Xu X. Wang C. Zhou J. Gao B. Suppressing UPR-dependent overactivation of FGFR3 signaling ameliorates SLC26A2-deficient chondrodysplasias . EBioMedicine 2019 ; 40 : 695 709 . Search in Google Scholar

Hästbacka J, Kerrebrock A, Mokkala K, Clines G, Lovett M, Kaitila I et al. Identification of the Finnish founder mutation for diastrophic dysplasia (DTD). Eur J Hum Genet. 1999; 7: 664-670. Hästbacka J Kerrebrock A Mokkala K Clines G Lovett M Kaitila I Identification of the Finnish founder mutation for diastrophic dysplasia (DTD) . Eur J Hum Genet. 1999 ; 7 : 664 - 670 . Search in Google Scholar

Rossi A, Superti-Furga A. Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance. Hum Mutat. 2001; 17: 159–71. Rossi A Superti-Furga A . Mutations in the diastrophic dysplasia sulfate transporter (DTDST) gene (SLC26A2): 22 novel mutations, mutation review, associated skeletal phenotypes, and diagnostic relevance . Hum Mutat. 2001 ; 17 : 159 71 . Search in Google Scholar

Mehran Kausar, Riikka E Mäkitie, Sanna Toiviainen-Salo, Jaakko Ignatius, Mariam Anees, Outi Mäkitie Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. Eur J Med Genet. 2019; 62(11): 103573. Mehran Kausar Mäkitie Riikka E Toiviainen-Salo Sanna Ignatius Jaakko Anees Mariam Mäkitie Outi Recessive multiple epiphyseal dysplasia - Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes . Eur J Med Genet. 2019 ; 62 ( 11 ): 103573 . Search in Google Scholar

Bieganski T, Faflik J, Kozlowski K. Diastrophic dysplasia with severe primary kyphosis and ‘monkey wrench’ appearance of the femora. Australas Radiol. 2000; 44: 450-53. Bieganski T Faflik J Kozlowski K . Diastrophic dysplasia with severe primary kyphosis and ‘monkey wrench’ appearance of the femora . Australas Radiol. 2000 ; 44 : 450 - 53 . Search in Google Scholar

Czarny-Ratajczak M, Bieganski T, Rogala P, Glowacki M, Trzeciak T, Kozlowski K. New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene. Am J Med Genet Part A. 2010; 152(A): 3036–3042. Czarny-Ratajczak M Bieganski T Rogala P Glowacki M Trzeciak T Kozlowski K . New intermediate phenotype between MED and DD caused by compound heterozygous mutations in the DTDST gene . Am J Med Genet Part A. 2010 ; 152 ( A ): 3036 3042 . Search in Google Scholar

Krista A. Geister1, Sally A. Advances in Skeletal Dysplasia Genetics. Annual Review of Genomics and Human Genetics, 2015; 16: 199-227. Geister Krista A. Sally A. Advances in Skeletal Dysplasia Genetics . Annual Review of Genomics and Human Genetics, 2015 ; 16 : 199 - 227 . Search in Google Scholar

Härkönen, H.; Loid, P.; Mäkitie, O. SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature. Genes. 2021; 12: 714. Härkönen H. Loid P. Mäkitie O. SLC26A2-Associated Diastrophic Dysplasia and rMED—Clinical Features in Affected Finnish Children and Review of the Literature . Genes. 2021 ; 12 : 714 . Search in Google Scholar

Paganini C. Tota C.G. Monti L. Monti I. Maurizi A. Capulli M. et al. Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine. Biochem. Pharmacol. 2021; 185: 114452. Paganini C. Tota C.G. Monti L. Monti I. Maurizi A. Capulli M. Improvement of the skeletal phenotype in a mouse model of diastrophic dysplasia after postnatal treatment with N-acetylcysteine . Biochem. Pharmacol. 2021 ; 185 : 114452 . Search in Google Scholar

Saari A. Sankilampi U. Hannila M.-L. Kiviniemi V. Kesseli K. Dunkel L. New Finnish growth references for children and adolescents aged 0 to 20 years: Length/ height-for-age, weight-for-length/height, and body mass index-for-age. Ann. Med. 2010; 43: 235–248. Saari A. Sankilampi U. Hannila M.-L. Kiviniemi V. Kesseli K. Dunkel L. New Finnish growth references for children and adolescents aged 0 to 20 years: Length/height-for-age, weight-for-length/height, and body mass index-for-age . Ann. Med. 2010 ; 43 : 235 248 . Search in Google Scholar

Kausar M. Mäkitie R.E. Toiviainen-Salo S. Ignatius J. Anees M. Mäkitie O. Recessive multiple epiphyseal dysplasia—Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes. Eur. J. Med. Genet. 2019; 62: 103573. Kausar M. Mäkitie R.E. Toiviainen-Salo S. Ignatius J. Anees M. Mäkitie O. Recessive multiple epiphyseal dysplasia—Clinical characteristics caused by rare compound heterozygous SLC26A2 genotypes . Eur. J. Med. Genet. 2019 ; 62 : 103573 . Search in Google Scholar

Syvänen J. Helenius I. Hero M. Mäkitie O. Ignatius J. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene. Am. J. Med. Genet. Part A. 2013; 161: 1491–1494. Syvänen J. Helenius I. Hero M. Mäkitie O. Ignatius J. Recessive MED with auricular swelling due to compound heterozygosity Arg279Tpr/Thr512Lys in the SLC26A2 gene . Am. J. Med. Genet. Part A. 2013 ; 161 : 1491 1494 . Search in Google Scholar

Superti-Furga A, Unger S, and the Nosology Group of the International Skeletal Dysplasia Society. Nosology and classification of genetic skeletal disorders: Am J Med Genet. Part A. 2007; 143A: 1–18. Superti-Furga A Unger S the Nosology Group of the International Skeletal Dysplasia Society . Nosology and classification of genetic skeletal disorders : Am J Med Genet. Part A. 2007 ; 143A : 1 18 . Search in Google Scholar

Buyse ML. Birth Defects Encyclopedia. Dover, MA: Blackwell Scientific Publications, Inc. 1990: 533-35. Buyse ML . Birth Defects Encyclopedia. Dover, MA : Blackwell Scientific Publications, Inc. 1990 : 533 - 35 . Search in Google Scholar

Superti-Furga A. Skeletal dysplasias related to defects in sulfate metabolism. In: Royce P, Steinmann B, editors. Connective Tissue and its heritable disorders, 2 Ed. New York: Wiley-Liss, Inc. 2002. 939-60. Superti-Furga A. Skeletal dysplasias related to defects in sulfate metabolism . In: Royce P Steinmann B editors. Connective Tissue and its heritable disorders, 2 Ed. New York : Wiley-Liss, Inc. 2002 . 939 - 60 . Search in Google Scholar

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Medicine, Basic Medical Science, other