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.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

146 related articles for article (PubMed ID: 24972238)

  • 41. A deleterious mutation in the ALMS1 gene in a naturally occurring model of hypertrophic cardiomyopathy in the Sphynx cat.
    Meurs KM; Williams BG; DeProspero D; Friedenberg SG; Malarkey DE; Ezzell JA; Keene BW; Adin DB; DeFrancesco TC; Tou S
    Orphanet J Rare Dis; 2021 Feb; 16(1):108. PubMed ID: 33639992
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Novel ALPK3 mutation in a Tunisian patient with pediatric cardiomyopathy and facio-thoraco-skeletal features.
    Jaouadi H; Kraoua L; Chaker L; Atkinson A; Delague V; Levy N; Benkhalifa R; Mrad R; Abdelhak S; Zaffran S
    J Hum Genet; 2018 Oct; 63(10):1077-1082. PubMed ID: 30046096
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Disruption of CLPB is associated with congenital microcephaly, severe encephalopathy and 3-methylglutaconic aciduria.
    Capo-Chichi JM; Boissel S; Brustein E; Pickles S; Fallet-Bianco C; Nassif C; Patry L; Dobrzeniecka S; Liao M; Labuda D; Samuels ME; Hamdan FF; Vande Velde C; Rouleau GA; Drapeau P; Michaud JL
    J Med Genet; 2015 May; 52(5):303-11. PubMed ID: 25650066
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Minichromosome maintenance complex component 8 (MCM8) gene mutations result in primary gonadal failure.
    Tenenbaum-Rakover Y; Weinberg-Shukron A; Renbaum P; Lobel O; Eideh H; Gulsuner S; Dahary D; Abu-Rayyan A; Kanaan M; Levy-Lahad E; Bercovich D; Zangen D
    J Med Genet; 2015 Jun; 52(6):391-9. PubMed ID: 25873734
    [TBL] [Abstract][Full Text] [Related]  

  • 45. Exome sequencing reveals a homozygous mutation in TWINKLE as the cause of multisystemic failure including renal tubulopathy in three siblings.
    Prasad C; Melançon SB; Rupar CA; Prasad AN; Nunez LD; Rosenblatt DS; Majewski J
    Mol Genet Metab; 2013 Mar; 108(3):190-4. PubMed ID: 23375728
    [TBL] [Abstract][Full Text] [Related]  

  • 46. A Nonsense ALMS1 Mutation Underlies Alström Syndrome in an Extended Mennonite Kindred Settled in North Mexico.
    Cruz-Aguilar M; Galaviz-Hernández C; Hiebert-Froese J; Sosa-Macías M; Zenteno JC
    Genet Test Mol Biomarkers; 2017 Jun; 21(6):397-401. PubMed ID: 28402684
    [TBL] [Abstract][Full Text] [Related]  

  • 47. A case report of two siblings with Alstrom syndrome without hearing loss associated with two new ALMS1 variants.
    Shurygina MF; Parker MA; Schlechter CL; Chen R; Li Y; Weleber RG; Yang P; Pennesi ME
    BMC Ophthalmol; 2019 Dec; 19(1):246. PubMed ID: 31810438
    [TBL] [Abstract][Full Text] [Related]  

  • 48. New mutation of mitochondrial DNAJC19 causing dilated and noncompaction cardiomyopathy, anemia, ataxia, and male genital anomalies.
    Ojala T; Polinati P; Manninen T; Hiippala A; Rajantie J; Karikoski R; Suomalainen A; Tyni T
    Pediatr Res; 2012 Oct; 72(4):432-7. PubMed ID: 22797137
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Whole-Exome Sequencing Identifies Homozygote Nonsense Variants in
    Sono R; Larrinaga TM; Huang A; Makhlouf F; Kang X; Su J; Lau R; Arboleda VA; Biniwale R; Fishbein GA; Khanlou N; Si MS; Satou GM; Halnon N; Ucla Congenital Heart Defects-BioCore Faculty ; Van Arsdell GS; Gregorio CC; Nelson S; Touma M
    Cells; 2023 May; 12(11):. PubMed ID: 37296576
    [TBL] [Abstract][Full Text] [Related]  

  • 50. WDR35 mutation in siblings with Sensenbrenner syndrome: a ciliopathy with variable phenotype.
    Bacino CA; Dhar SU; Brunetti-Pierri N; Lee B; Bonnen PE
    Am J Med Genet A; 2012 Nov; 158A(11):2917-24. PubMed ID: 22987818
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Familial variable expression of dilated cardiomyopathy in Alström syndrome: a report of four sibs.
    Hoffman JD; Jacobson Z; Young TL; Marshall JD; Kaplan P
    Am J Med Genet A; 2005 May; 135(1):96-8. PubMed ID: 15809999
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Mutation of DNAJC19, a human homologue of yeast inner mitochondrial membrane co-chaperones, causes DCMA syndrome, a novel autosomal recessive Barth syndrome-like condition.
    Davey KM; Parboosingh JS; McLeod DR; Chan A; Casey R; Ferreira P; Snyder FF; Bridge PJ; Bernier FP
    J Med Genet; 2006 May; 43(5):385-93. PubMed ID: 16055927
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Homozygous truncating mutation in NRAP gene identified by whole exome sequencing in a patient with dilated cardiomyopathy.
    Truszkowska GT; Bilińska ZT; Muchowicz A; Pollak A; Biernacka A; Kozar-Kamińska K; Stawiński P; Gasperowicz P; Kosińska J; Zieliński T; Płoski R
    Sci Rep; 2017 Jun; 7(1):3362. PubMed ID: 28611399
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Identification of a Rare Exon 19 Skipping Mutation in ALMS1 Gene in Alström Syndrome Patients From Two Unrelated Saudi Families.
    Saadah OI; Banaganapalli B; Kamal NM; Sahly AN; Alsufyani HA; Mohammed A; Ahmad A; Nasser KK; Al-Aama JY; Shaik NA; Elango R
    Front Pediatr; 2021; 9():652011. PubMed ID: 33981653
    [No Abstract]   [Full Text] [Related]  

  • 55. Dilated cardiomyopathy may be an early sign of the C826A Fukutin-related protein mutation.
    Müller T; Krasnianski M; Witthaut R; Deschauer M; Zierz S
    Neuromuscul Disord; 2005 May; 15(5):372-6. PubMed ID: 15833432
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Mutations in PPCS, Encoding Phosphopantothenoylcysteine Synthetase, Cause Autosomal-Recessive Dilated Cardiomyopathy.
    Iuso A; Wiersma M; Schüller HJ; Pode-Shakked B; Marek-Yagel D; Grigat M; Schwarzmayr T; Berutti R; Alhaddad B; Kanon B; Grzeschik NA; Okun JG; Perles Z; Salem Y; Barel O; Vardi A; Rubinshtein M; Tirosh T; Dubnov-Raz G; Messias AC; Terrile C; Barshack I; Volkov A; Avivi C; Eyal E; Mastantuono E; Kumbar M; Abudi S; Braunisch M; Strom TM; Meitinger T; Hoffmann GF; Prokisch H; Haack TB; Brundel BJJM; Haas D; Sibon OCM; Anikster Y
    Am J Hum Genet; 2018 Jun; 102(6):1018-1030. PubMed ID: 29754768
    [TBL] [Abstract][Full Text] [Related]  

  • 57. A very early diagnosis of Alstrӧm syndrome by next generation sequencing.
    Gatticchi L; Miertus J; Maltese PE; Bressan S; De Antoni L; Podracká L; Piteková L; Rísová V; Mällo M; Jaakson K; Joost K; Colombo L; Bertelli M
    BMC Med Genet; 2020 Sep; 21(1):173. PubMed ID: 32867697
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Progressive Cerebellar Atrophy and a Novel Homozygous Pathogenic DNAJC19 Variant as a Cause of Dilated Cardiomyopathy Ataxia Syndrome.
    Al Teneiji A; Siriwardena K; George K; Mital S; Mercimek-Mahmutoglu S
    Pediatr Neurol; 2016 Sep; 62():58-61. PubMed ID: 27426421
    [TBL] [Abstract][Full Text] [Related]  

  • 59. Homozygosity mapping and whole exome sequencing reveal a novel homozygous COL18A1 mutation causing Knobloch syndrome.
    Haghighi A; Tiwari A; Piri N; Nürnberg G; Saleh-Gohari N; Haghighi A; Neidhardt J; Nürnberg P; Berger W
    PLoS One; 2014; 9(11):e112747. PubMed ID: 25392994
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Differentiating Alström from Bardet-Biedl syndrome (BBS) using systematic ciliopathy genes sequencing.
    Aliferis K; Hellé S; Gyapay G; Duchatelet S; Stoetzel C; Mandel JL; Dollfus H
    Ophthalmic Genet; 2012 Mar; 33(1):18-22. PubMed ID: 22004009
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 8.