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Journal Abstract Search

120 related items for PubMed ID: 10633136

  • 1. Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type.
    Faivre L, Le Merrer M, Megarbane A, Gilbert B, Mortier G, Cusin V, Munnich A, Maroteaux P, Cormier-Daire V.
    J Med Genet; 2000 Jan; 37(1):52-4. PubMed ID: 10633136
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  • 2. Acromesomelic dysplasia Maroteaux type maps to human chromosome 9.
    Kant SG, Polinkovsky A, Mundlos S, Zabel B, Thomeer RT, Zonderland HM, Shih L, van Haeringen A, Warman ML.
    Am J Hum Genet; 1998 Jul; 63(1):155-62. PubMed ID: 9634515
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  • 3. Further defining the clinical and molecular spectrum of acromesomelic dysplasia type maroteaux: a Turkish tertiary center experience.
    Simsek-Kiper PO, Urel-Demir G, Taskiran EZ, Arslan UE, Nur B, Mihci E, Haliloglu M, Alanay Y, Utine GE, Boduroglu K.
    J Hum Genet; 2021 Jun; 66(6):585-596. PubMed ID: 33288834
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  • 4. Localization of an acromesomelic dysplasia on chromosome 9 by homozygosity mapping.
    Ianakiev P, Kilpatrick MW, Daly MJ, Zolindaki A, Bagley D, Beighton G, Beighton P, Tsipouras P.
    Clin Genet; 2000 Apr; 57(4):278-83. PubMed ID: 10845568
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  • 6. Molecular and in silico analyses validates pathogenicity of homozygous mutations in the NPR2 gene underlying variable phenotypes of Acromesomelic dysplasia, type Maroteaux.
    Irfanullah, Zeb A, Shinwari N, Shah K, Gilani SZT, Khan S, Lee KW, Raza SI, Hussain S, Liaqat K, Ahmad W.
    Int J Biochem Cell Biol; 2018 Sep; 102():76-86. PubMed ID: 30016695
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  • 7. A novel nonsense mutation in NPR2 gene causing Acromesomelic dysplasia, type Maroteaux in a consanguineous family in Southern Punjab (Pakistan).
    Mustafa S, Akhtar Z, Latif M, Hassan M, Faisal M, Iqbal F.
    Genes Genomics; 2020 Aug; 42(8):847-854. PubMed ID: 32506268
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  • 9. Novel homozygous sequence variants in the GDF5 gene underlie acromesomelic dysplasia type-grebe in consanguineous families.
    Umair M, Rafique A, Ullah A, Ahmad F, Ali RH, Nasir A, Ansar M, Ahmad W.
    Congenit Anom (Kyoto); 2017 Mar; 57(2):45-51. PubMed ID: 27577507
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  • 11. A mild case of acromesomelic dysplasia, type Maroteaux with novel natriuretic peptide receptor B (NPR2) variants.
    Murch O, Jain V, Offiah AC.
    Radiol Case Rep; 2021 Aug; 16(8):2240-2243. PubMed ID: 34178199
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  • 12. Novel mutations in the transmembrane natriuretic peptide receptor NPR-B gene in four Indian families with acromesomelic dysplasia, type Maroteaux.
    Srivastava P, Tuteja M, Dalal A, Mandal K, R Phadke S.
    J Genet; 2016 Dec; 95(4):905-909. PubMed ID: 27994189
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  • 17. Linkage of recessive Robinow syndrome to a 4 cM interval on chromosome 9q22.
    Afzal AR, Rajab A, Fenske C, Crosby A, Lahiri N, Ternes-Pereira E, Murday VA, Houlston R, Patton MA, Jeffery S.
    Hum Genet; 2000 Mar; 106(3):351-4. PubMed ID: 10798366
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  • 19. A NOVEL MUTATION IN NPR2 GENE IN A PATIENT WITH ACROMESOMELIC DYSPLASIA, MAROTEAUX TYPE.
    Sag SO, Gorukmez O, Topak A, Gorukmez O, Ture M, Sahinturk S, Gulten T, Yakut T.
    Genet Couns; 2015 Mar; 26(2):219-25. PubMed ID: 26349192
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  • 20. Distinct, autosomal recessive form of spondyloepimetaphyseal dysplasia segregating in an inbred Pakistani kindred.
    Ahmad M, Faiyaz Ul Haque M, Ahmad W, Abbas H, Haque S, Krakow D, Rimoin DL, Lachman RS, Cohn DH.
    Am J Med Genet; 1998 Aug 06; 78(5):468-73. PubMed ID: 9714015
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