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 *

178 related articles for article (PubMed ID: 29341397)

  • 1. Bi-allelic mutations of CCDC88C are a rare cause of severe congenital hydrocephalus.
    Ruggeri G; Timms AE; Cheng C; Weiss A; Kollros P; Chapman T; Tully H; Mirzaa GM
    Am J Med Genet A; 2018 Mar; 176(3):676-681. PubMed ID: 29341397
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Two novel CCDC88C mutations confirm the role of DAPLE in autosomal recessive congenital hydrocephalus.
    Drielsma A; Jalas C; Simonis N; Désir J; Simanovsky N; Pirson I; Elpeleg O; Abramowicz M; Edvardson S
    J Med Genet; 2012 Nov; 49(11):708-12. PubMed ID: 23042809
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Neuropathological hallmarks of fetal hydrocephalus linked to CCDC88C pathogenic variants.
    Marguet F; Vezain M; Marcorelles P; Audebert-Bellanger S; Cassinari K; Drouot N; Chambon P; Gonzalez BJ; Horowitz A; Laquerriere A; Saugier-Veber P
    Acta Neuropathol Commun; 2021 Jun; 9(1):104. PubMed ID: 34092257
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Surprisingly good outcome in antenatal diagnosis of severe hydrocephalus related to CCDC88C deficiency.
    Wallis M; Baumer A; Smaili W; Jaouad IC; Sefiani A; Jacobson E; Bowyer L; Mowat D; Rauch A
    Eur J Med Genet; 2018 Apr; 61(4):189-196. PubMed ID: 29225145
    [TBL] [Abstract][Full Text] [Related]  

  • 5. CCDC88C variants are associated with focal epilepsy and genotype-phenotype correlation.
    Chen YJ; Wang WJ; Zou DF; Luo JX; Jin PY; Jin L; Liu XR; Liao WP; Li B; Chen YJ;
    Clin Genet; 2024 Apr; 105(4):397-405. PubMed ID: 38173219
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A heterozygous mutation in the CCDC88C gene likely causes early-onset pure hereditary spastic paraplegia: a case report.
    Yahia A; Chen ZS; Ahmed AE; Emad S; Adil R; Abubaker R; Taha SOMA; Salih MA; Elsayed L; Chan HYE; Stevanin G
    BMC Neurol; 2021 Feb; 21(1):78. PubMed ID: 33602173
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The genetic landscape of familial congenital hydrocephalus.
    Shaheen R; Sebai MA; Patel N; Ewida N; Kurdi W; Altweijri I; Sogaty S; Almardawi E; Seidahmed MZ; Alnemri A; Madirevula S; Ibrahim N; Abdulwahab F; Hashem M; Al-Sheddi T; Alomar R; Alobeid E; Sallout B; AlBaqawi B; AlAali W; Ajaji N; Lesmana H; Hopkin RJ; Dupuis L; Mendoza-Londono R; Al Rukban H; Yoon G; Faqeih E; Alkuraya FS
    Ann Neurol; 2017 Jun; 81(6):890-897. PubMed ID: 28556411
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Spinocerebellar Ataxia in a Hungarian Female Patient with a Novel Variant of Unknown Significance in the
    Boros FA; Szpisjak L; Bozó R; Kelemen E; Zádori D; Salamon A; Danis J; Kalmár T; Maróti Z; Molnár MJ; Klivényi P; Széll M; Ádám É
    Int J Mol Sci; 2023 Jan; 24(3):. PubMed ID: 36768938
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Disturbed Wnt Signalling due to a Mutation in CCDC88C Causes an Autosomal Recessive Non-Syndromic Hydrocephalus with Medial Diverticulum.
    Ekici AB; Hilfinger D; Jatzwauk M; Thiel CT; Wenzel D; Lorenz I; Boltshauser E; Goecke TW; Staatz G; Morris-Rosendahl DJ; Sticht H; Hehr U; Reis A; Rauch A
    Mol Syndromol; 2010 Sep; 1(3):99-112. PubMed ID: 21031079
    [TBL] [Abstract][Full Text] [Related]  

  • 10. A Novel c.3636-4 A>G Mutation in the CCDC88C Plays a Causative Role in Familial Spinocerebellar Ataxia.
    Chai S; Liu D; Liu Y; Sang M
    Hum Hered; 2023; 88(1):91-97. PubMed ID: 37899026
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Mutation in MPDZ causes severe congenital hydrocephalus.
    Al-Dosari MS; Al-Owain M; Tulbah M; Kurdi W; Adly N; Al-Hemidan A; Masoodi TA; Albash B; Alkuraya FS
    J Med Genet; 2013 Jan; 50(1):54-8. PubMed ID: 23240096
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A novel missense mutation in CCDC88C activates the JNK pathway and causes a dominant form of spinocerebellar ataxia.
    Tsoi H; Yu AC; Chen ZS; Ng NK; Chan AY; Yuen LY; Abrigo JM; Tsang SY; Tsui SK; Tong TM; Lo IF; Lam ST; Mok VC; Wong LK; Ngo JC; Lau KF; Chan TF; Chan HY
    J Med Genet; 2014 Sep; 51(9):590-5. PubMed ID: 25062847
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla.
    Tessier A; Roux N; Boutaud L; Lunel E; Hakkakian L; Parisot M; Garfa-Traoré M; Ichkou A; Elkhartoufi N; Bole C; Nitschke P; Amiel J; Martinovic J; Encha-Razavi F; Attié-Bitach T; Thomas S
    Acta Neuropathol Commun; 2023 Feb; 11(1):29. PubMed ID: 36803301
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Periventricular heterotopia: phenotypic heterogeneity and correlation with Filamin A mutations.
    Parrini E; Ramazzotti A; Dobyns WB; Mei D; Moro F; Veggiotti P; Marini C; Brilstra EH; Dalla Bernardina B; Goodwin L; Bodell A; Jones MC; Nangeroni M; Palmeri S; Said E; Sander JW; Striano P; Takahashi Y; Van Maldergem L; Leonardi G; Wright M; Walsh CA; Guerrini R
    Brain; 2006 Jul; 129(Pt 7):1892-906. PubMed ID: 16684786
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Confirmation of the Pathogenetic Role of the CCDC88C Gene in Early-Onset Pure Spastic Paraplegia.
    Caputo D; Cetica V; Paoli S; Rosati A; Lazzeri S
    Mov Disord; 2023 Aug; 38(8):1561-1562. PubMed ID: 37317935
    [No Abstract]   [Full Text] [Related]  

  • 16. Compound heterozygous variants in the multiple PDZ domain protein (MPDZ) cause a case of mild non-progressive communicating hydrocephalus.
    Al-Jezawi NK; Al-Shamsi AM; Suleiman J; Ben-Salem S; John A; Vijayan R; Ali BR; Al-Gazali L
    BMC Med Genet; 2018 Mar; 19(1):34. PubMed ID: 29499638
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Molecular mechanisms and neuroimaging criteria for severe L1 syndrome with X-linked hydrocephalus.
    Kanemura Y; Okamoto N; Sakamoto H; Shofuda T; Kamiguchi H; Yamasaki M
    J Neurosurg; 2006 Nov; 105(5 Suppl):403-12. PubMed ID: 17328266
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Recessive HYDIN mutations cause primary ciliary dyskinesia without randomization of left-right body asymmetry.
    Olbrich H; Schmidts M; Werner C; Onoufriadis A; Loges NT; Raidt J; Banki NF; Shoemark A; Burgoyne T; Al Turki S; Hurles ME; ; Köhler G; Schroeder J; Nürnberg G; Nürnberg P; Chung EM; Reinhardt R; Marthin JK; Nielsen KG; Mitchison HM; Omran H
    Am J Hum Genet; 2012 Oct; 91(4):672-84. PubMed ID: 23022101
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Mutations in FLVCR2 associated with Fowler syndrome and survival beyond infancy.
    Kvarnung M; Taylan F; Nilsson D; Albåge M; Nordenskjöld M; Anderlid BM; Nordgren A; Syk Lundberg E
    Clin Genet; 2016 Jan; 89(1):99-103. PubMed ID: 25677735
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Novel SBF1 splice-site null mutation broadens the clinical spectrum of Charcot-Marie-Tooth type 4B3 disease.
    Flusser H; Halperin D; Kadir R; Shorer Z; Shelef I; Birk OS
    Clin Genet; 2018 Nov; 94(5):473-479. PubMed ID: 30039846
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.