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PUBMED FOR HANDHELDS

Journal Abstract Search

188 related items for PubMed ID: 32311039

  • 1. 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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  • 2. IHH Gene Mutations Causing Short Stature With Nonspecific Skeletal Abnormalities and Response to Growth Hormone Therapy.
    Vasques GA, Funari MFA, Ferreira FM, Aza-Carmona M, Sentchordi-Montané L, Barraza-García J, Lerario AM, Yamamoto GL, Naslavsky MS, Duarte YAO, Bertola DR, Heath KE, Jorge AAL.
    J Clin Endocrinol Metab; 2018 Feb 01; 103(2):604-614. PubMed ID: 29155992
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  • 3. Variants in both the N- or C-terminal domains of IHH lead to defective secretion causing short stature and skeletal defects.
    Díaz-González F, Sentchordi-Montané L, Lucas-Castro E, Modamio-Høybjør S, Heath KE.
    Eur J Endocrinol; 2024 Jul 02; 191(1):38-46. PubMed ID: 38917024
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  • 5. A novel variant of IHH in a Chinese family with brachydactyly type 1.
    Yang Q, Wang J, Tian X, Shen F, Lan J, Zhang Q, Fan X, Yi S, Li M, Shen Y.
    BMC Med Genet; 2020 Mar 24; 21(1):60. PubMed ID: 32209048
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  • 6. High prevalence of variants in skeletal dysplasia associated genes in individuals with short stature and minor skeletal anomalies.
    Sentchordi-Montané L, Benito-Sanz S, Aza-Carmona M, Díaz-González F, Modamio-Høybjør S, de la Torre C, Nevado J, Ruiz-Ocaña P, Bezanilla-López C, Prieto P, Bahíllo-Curieses P, Carcavilla A, Mulero-Collantes I, Barreda-Bonis AC, Cruz-Rojo J, Ramírez-Fernández J, Bermúdez de la Vega JA, Travessa AM, González de Buitrago Amigo J, Del Pozo A, Vallespín E, Solís M, Goetz C, Campos-Barros Á, Santos-Simarro F, González-Casado I, Ros-Pérez P, Parrón-Pajares M, Heath KE.
    Eur J Endocrinol; 2021 Oct 11; 185(5):691-705. PubMed ID: 34516402
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  • 10. Brachydactyly type A1 associated with unusual radiological findings and a novel Arg158Cys mutation in the Indian hedgehog (IHH) gene.
    Stattin EL, Lindén B, Lönnerholm T, Schuster J, Dahl N.
    Eur J Med Genet; 2009 Oct 11; 52(5):297-302. PubMed ID: 19464397
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  • 11. Variable expressivity of the phenotype in two families with brachydactyly type E, craniofacial dysmorphism, short stature and delayed bone age caused by novel heterozygous mutations in the PTHLH gene.
    Jamsheer A, Sowińska-Seidler A, Olech EM, Socha M, Kozłowski K, Pyrkosz A, Trzeciak T, Materna-Kiryluk A, Latos-Bieleńska A.
    J Hum Genet; 2016 May 11; 61(5):457-61. PubMed ID: 26763883
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  • 12. Brachydactyly type A1 with short humerus and associated skeletal features.
    Lacombe D, Delrue MA, Rooryck C, Morice-Picard F, Arveiler B, Maugey-Laulom B, Mundlos S, Toutain A, Chateil JF.
    Am J Med Genet A; 2010 Dec 11; 152A(12):3016-21. PubMed ID: 21077205
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  • 15. 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 11; 21(3):137-140. PubMed ID: 22406540
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  • 17. 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 Jul 11; 6():2050313X18818711. PubMed ID: 30574312
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  • 19. Acrocapitofemoral dysplasia: Novel mutation in IHH in two adult patients from the third family in the literature and progression of the disease.
    Ozyavuz Cubuk P, Duz MB.
    Eur J Med Genet; 2021 Nov 11; 64(11):104343. PubMed ID: 34530144
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