These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


Pubmed for Handhelds

PUBMED FOR HANDHELDS

Journal Abstract Search

152 related items for PubMed ID: 26640227

  • 1. Report of two novel mutations in PTHLH associated with brachydactyly type E and literature review.
    Thomas-Teinturier C, Pereda A, Garin I, Diez-Lopez I, Linglart A, Silve C, de Nanclares GP.
    Am J Med Genet A; 2016 Mar; 170(3):734-42. PubMed ID: 26640227
    [Abstract] [Full Text] [Related]

  • 2. 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; 61(5):457-61. PubMed ID: 26763883
    [Abstract] [Full Text] [Related]

  • 3. A 3.06-Mb interstitial deletion on 12p11.22-12.1 caused brachydactyly type E combined with pectus carinatum.
    Huang J, Liu HY, Wang RR, Xiao H, Wu D, Li T, Jiang YH, Zhang X.
    Chin Med J (Engl); 2019 Jul 20; 132(14):1681-1688. PubMed ID: 31283647
    [Abstract] [Full Text] [Related]

  • 4. Deletion and point mutations of PTHLH cause brachydactyly type E.
    Klopocki E, Hennig BP, Dathe K, Koll R, de Ravel T, Baten E, Blom E, Gillerot Y, Weigel JF, Krüger G, Hiort O, Seemann P, Mundlos S.
    Am J Hum Genet; 2010 Mar 12; 86(3):434-9. PubMed ID: 20170896
    [Abstract] [Full Text] [Related]

  • 5. Exome sequencing reveals a novel PTHLH mutation in a Chinese pedigree with brachydactyly type E and short stature.
    Wang J, Wang Z, An Y, Wu C, Xu Y, Fu Q, Shen Y, Zhang Q.
    Clin Chim Acta; 2015 Jun 15; 446():9-14. PubMed ID: 25801215
    [Abstract] [Full Text] [Related]

  • 6. Duplication of PTHLH causes osteochondroplasia with a combined brachydactyly type E/A1 phenotype with disturbed bone maturation and rhizomelia.
    Flöttmann R, Sowinska-Seidler A, Lavie J, Chateil JF, Lacombe D, Mundlos S, Horn D, Spielmann M.
    Eur J Hum Genet; 2016 Aug 15; 24(8):1132-6. PubMed ID: 26733284
    [Abstract] [Full Text] [Related]

  • 7.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 8. A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
    Sun J, Yang N, Xu Z, Cheng H, Zhang X.
    Mol Genet Genomic Med; 2024 Feb 15; 12(2):e2393. PubMed ID: 38407575
    [Abstract] [Full Text] [Related]

  • 9. The p.R56* mutation in PTHLH causes variable brachydactyly type E.
    Pereda A, Garzon-Lorenzo L, Garin I, Cruz-Rojo J, Sanchez Del Pozo J, Perez de Nanclares G.
    Am J Med Genet A; 2017 Mar 15; 173(3):816-819. PubMed ID: 28211986
    [No Abstract] [Full Text] [Related]

  • 10. Failure of tooth eruption and brachydactyly in pseudohypoparathyroidism are not related to plasma parathyroid hormone-related protein levels.
    Reis MT, Matias DT, Faria ME, Martin RM.
    Bone; 2016 Apr 15; 85():138-41. PubMed ID: 26855372
    [Abstract] [Full Text] [Related]

  • 11. A novel mutation in PTHLH in a family with a variable phenotype with brachydactyly, short stature, oligodontia and developmental delay.
    Scheffer-Rath MEA, Veenstra-Knol HE, Boot AM.
    Bone Rep; 2023 Dec 15; 19():101699. PubMed ID: 37501674
    [Abstract] [Full Text] [Related]

  • 12. PDE3A gene screening improves diagnostics for patients with Bilginturan syndrome (hypertension and brachydactyly syndrome).
    Renkema KY, Westermann JM, Nievelstein RAJ, Lo-A-Njoe SM, van der Zwaag B, Manshande ME, van Haelst MM.
    Hypertens Res; 2018 Nov 15; 41(11):981-988. PubMed ID: 30209282
    [Abstract] [Full Text] [Related]

  • 13. Novel Pathogenetic Variants in PTHLH and TRPS1 Genes Causing Syndromic Brachydactyly.
    Elli FM, Mattinzoli D, Lucca C, Piu M, Maffini MA, Costanza J, Fontana L, Santaniello C, Forino C, Milani D, Bonati MT, Secco A, Gastaldi R, Alfieri C, Messa P, Miozzo M, Arosio M, Mantovani G.
    J Bone Miner Res; 2022 Mar 15; 37(3):465-474. PubMed ID: 34897794
    [Abstract] [Full Text] [Related]

  • 14. ADAM19 cleaves the PTH receptor and associates with brachydactyly type E.
    Aydin A, Klenk C, Nemec K, Işbilir A, Martin LM, Zauber H, Rrustemi T, Toka HR, Schuster H, Gong M, Stricker S, Bock A, Bähring S, Selbach M, Lohse MJ, Luft FC.
    Life Sci Alliance; 2024 Apr 15; 7(4):. PubMed ID: 38331475
    [Abstract] [Full Text] [Related]

  • 15.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 16. Novel Mutation in PTHLH Related to Brachydactyly Type E2 Initially Confused with Unclassical Pseudopseudohypoparathyroidism.
    Bae J, Choi HS, Park SY, Lee DE, Lee S.
    Endocrinol Metab (Seoul); 2018 Jun 15; 33(2):252-259. PubMed ID: 29947179
    [Abstract] [Full Text] [Related]

  • 17. Brachydactyly type E in an Italian family with 6p25 trisomy.
    Fontana P, Tortora C, Petillo R, Malacarne M, Cavani S, Miniero M, D'Ambrosio P, De Brasi D, Pisanti MA.
    Eur J Med Genet; 2017 Mar 15; 60(3):195-199. PubMed ID: 28111183
    [Abstract] [Full Text] [Related]

  • 18. 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
    [Abstract] [Full Text] [Related]

  • 19.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 20.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

    Page: [Next] [New Search]
    of 8.