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Journal Abstract Search

187 related items for PubMed ID: 32209048

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  • 2. Deletion of 2 amino acids in IHH in a Japanese family with brachydactyly type A1.
    Ozaki N, Okuda H, Kobayashi H, Harada KH, Inoue S, Youssefian S, Koizumi A.
    BMC Med Genomics; 2021 Jul 27; 14(1):190. PubMed ID: 34315464
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  • 3. Clinical and Molecular Description of 16 Families With Heterozygous IHH Variants.
    Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Pereda A, Parrón-Pajares M, de la Torre C, Vasques GA, Funari MFA, Travessa AM, Dias P, Suarez-Ortega L, González-Buitrago J, Portillo-Najera NE, Llano-Rivas I, Martín-Frías M, Ramírez-Fernández J, Sánchez Del Pozo J, Garzón-Lorenzo L, Martos-Moreno GA, Alfaro-Iznaola C, Mulero-Collantes I, Ruiz-Ocaña P, Casano-Sancho P, Portela A, Ruiz-Pérez L, Del Pozo A, Vallespín E, Solís M, Lerario AM, González-Casado I, Ros-Pérez P, Pérez de Nanclares G, Jorge AAL, Heath KE.
    J Clin Endocrinol Metab; 2020 Aug 01; 105(8):. PubMed ID: 32311039
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  • 5. Mutation screening in candidate genes in four Chinese brachydactyly families.
    Dong S, Wang Y, Tao S, Zheng F.
    Ann Clin Lab Sci; 2015 Aug 01; 45(1):94-9. PubMed ID: 25696018
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  • 6. Whole-exome sequencing identifies a novel IHH insertion in an Ontario family with brachydactyly type A1.
    Ho R, McIntyre AD, Kennedy BA, Hegele RA.
    SAGE Open Med Case Rep; 2018 Aug 01; 6():2050313X18818711. PubMed ID: 30574312
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  • 7. Case Report: Brachydactyly Type A1 Induced by a Novel Variant of in-Frame Insertion in the IHH Gene.
    Zeng F, Liu H, Xia X, Shu Y, Cheng W, Xu H, Yin G, Xie Q.
    Front Genet; 2022 Aug 01; 13():814786. PubMed ID: 35669189
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  • 9. Prenatal diagnosis of a family affected by brachydactyly type A1 with a mutation in IHH: a useful lesson.
    Palka C, Antonucci I, Alfonsi M, Bedeschi MF, Mohn A, Lalatta F, Chiarelli F, Palka G, Stuppia L.
    Clin Dysmorphol; 2012 Jul 01; 21(3):137-140. PubMed ID: 22406540
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  • 15. [Clinical investigation of a family with brachydactyly type A1 and the identification of the disease gene].
    Ke X, Dong AL, Liu QJ.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 01; 26(3):267-71. PubMed ID: 19504437
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  • 16. Whole-exome sequencing identifies a de novo PDE3A variant causing autosomal dominant hypertension with brachydactyly type E syndrome: a case report.
    Li X, Li Z, Chen P, Wang Y, Wang DW, Wang DW.
    BMC Med Genet; 2020 Jul 06; 21(1):144. PubMed ID: 32631253
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  • 17. Indian hedgehog mutations causing brachydactyly type A1 impair Hedgehog signal transduction at multiple levels.
    Ma G, Yu J, Xiao Y, Chan D, Gao B, Hu J, He Y, Guo S, Zhou J, Zhang L, Gao L, Zhang W, Kang Y, Cheah KS, Feng G, Guo X, Wang Y, Zhou CZ, He L.
    Cell Res; 2011 Sep 06; 21(9):1343-57. PubMed ID: 21537345
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  • 20. A novel variant in the ROR2 gene underlying brachydactyly type B: a case report.
    Shao J, Liu Y, Zhao S, Sun W, Zhan J, Cao L.
    BMC Pediatr; 2022 Sep 05; 22(1):528. PubMed ID: 36064339
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