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 *

133 related articles for article (PubMed ID: 32042920)

  • 1.
    Yaramis A; Lochmüller H; Töpf A; Sonmezler E; Yilmaz E; Hiz S; Yis U; Gungor S; Ipek Polat A; Edem P; Beltran S; Laurie S; Yaramis A; Horvath R; Oktay Y
    Neurol Genet; 2020 Feb; 6(1):e392. PubMed ID: 32042920
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Whole exome analysis identifies dominant COL4A1 mutations in patients with complex ocular phenotypes involving microphthalmia.
    Deml B; Reis LM; Maheshwari M; Griffis C; Bick D; Semina EV
    Clin Genet; 2014 Nov; 86(5):475-81. PubMed ID: 24628545
    [TBL] [Abstract][Full Text] [Related]  

  • 3. High diagnostic rate of trio exome sequencing in consanguineous families with neurogenetic diseases.
    Hiz Kurul S; Oktay Y; Töpf A; Szabó NZ; Güngör S; Yaramis A; Sonmezler E; Matalonga L; Yis U; Schon K; Paramonov I; Kalafatcilar İP; Gao F; Rieger A; Arslan N; Yilmaz E; Ekinci B; Edem PP; Aslan M; Özgör B; Lochmüller A; Nair A; O'Heir E; Lovgren AK; ; Maroofian R; Houlden H; Polavarapu K; Roos A; Müller JS; Hathazi D; Chinnery PF; Laurie S; Beltran S; Lochmüller H; Horvath R
    Brain; 2022 May; 145(4):1507-1518. PubMed ID: 34791078
    [TBL] [Abstract][Full Text] [Related]  

  • 4. COL4A1 mutations as a potential novel cause of autosomal dominant CAKUT in humans.
    Kitzler TM; Schneider R; Kohl S; Kolvenbach CM; Connaughton DM; Dai R; Mann N; Nakayama M; Majmundar AJ; Wu CW; Kari JA; El Desoky SM; Senguttuvan P; Bogdanovic R; Stajic N; Valivullah Z; Lek M; Mane S; Lifton RP; Tasic V; Shril S; Hildebrandt F
    Hum Genet; 2019 Oct; 138(10):1105-1115. PubMed ID: 31230195
    [TBL] [Abstract][Full Text] [Related]  

  • 5. A biallelic loss of function variant in HORMAD1 within a large consanguineous Turkish family is associated with spermatogenic arrest.
    Okutman O; Boivin M; Muller J; Charlet-Berguerand N; Viville S
    Hum Reprod; 2023 Feb; 38(2):306-314. PubMed ID: 36524333
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Disruption of a miR-29 binding site leading to COL4A1 upregulation causes pontine autosomal dominant microangiopathy with leukoencephalopathy.
    Verdura E; Hervé D; Bergametti F; Jacquet C; Morvan T; Prieto-Morin C; Mackowiak A; Manchon E; Hosseini H; Cordonnier C; Girard-Buttaz I; Rosenstingl S; Hagel C; Kuhlenbaümer G; Leca-Radu E; Goux D; Fleming L; Van Agtmael T; Chabriat H; Chapon F; Tournier-Lasserve E
    Ann Neurol; 2016 Nov; 80(5):741-753. PubMed ID: 27666438
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Two families with novel missense mutations in COL4A1: When diagnosis can be missed.
    Giorgio E; Vaula G; Bosco G; Giacone S; Mancini C; Calcia A; Cavalieri S; Di Gregorio E; Rigault De Longrais R; Leombruni S; Pinessi L; Cerrato P; Brusco A; Brussino A
    J Neurol Sci; 2015 May; 352(1-2):99-104. PubMed ID: 25873210
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Late-onset phenotype associated with a homozygous GJC2 missense mutation in a Turkish family.
    Kuipers DJS; Tufekcioglu Z; Bilgiç B; Olgiati S; Dremmen MHG; van IJcken WFJ; Breedveld GJ; Mancini GMS; Hanagasi HA; Emre M; Bonifati V
    Parkinsonism Relat Disord; 2019 Sep; 66():228-231. PubMed ID: 31431325
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Neurologic phenotypes associated with
    Zagaglia S; Selch C; Nisevic JR; Mei D; Michalak Z; Hernandez-Hernandez L; Krithika S; Vezyroglou K; Varadkar SM; Pepler A; Biskup S; Leão M; Gärtner J; Merkenschlager A; Jaksch M; Møller RS; Gardella E; Kristiansen BS; Hansen LK; Vari MS; Helbig KL; Desai S; Smith-Hicks CL; Hino-Fukuyo N; Talvik T; Laugesaar R; Ilves P; Õunap K; Körber I; Hartlieb T; Kudernatsch M; Winkler P; Schimmel M; Hasse A; Knuf M; Heinemeyer J; Makowski C; Ghedia S; Subramanian GM; Striano P; Thomas RH; Micallef C; Thom M; Werring DJ; Kluger GJ; Cross JH; Guerrini R; Balestrini S; Sisodiya SM
    Neurology; 2018 Nov; 91(22):e2078-e2088. PubMed ID: 30413629
    [TBL] [Abstract][Full Text] [Related]  

  • 10. B3GALNT2 mutations associated with non-syndromic autosomal recessive intellectual disability reveal a lack of genotype-phenotype associations in the muscular dystrophy-dystroglycanopathies.
    Maroofian R; Riemersma M; Jae LT; Zhianabed N; Willemsen MH; Wissink-Lindhout WM; Willemsen MA; de Brouwer APM; Mehrjardi MYV; Ashrafi MR; Kusters B; Kleefstra T; Jamshidi Y; Nasseri M; Pfundt R; Brummelkamp TR; Abbaszadegan MR; Lefeber DJ; van Bokhoven H
    Genome Med; 2017 Dec; 9(1):118. PubMed ID: 29273094
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Novel loss-of-function variants in DIAPH1 associated with syndromic microcephaly, blindness, and early onset seizures.
    Al-Maawali A; Barry BJ; Rajab A; El-Quessny M; Seman A; Coury SN; Barkovich AJ; Yang E; Walsh CA; Mochida GH; Stoler JM
    Am J Med Genet A; 2016 Feb; 170A(2):435-440. PubMed ID: 26463574
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Next generation sequencing uncovers a missense mutation in COL4A1 as the cause of familial retinal arteriolar tortuosity.
    Zenteno JC; Crespí J; Buentello-Volante B; Buil JA; Bassaganyas F; Vela-Segarra JI; Diaz-Cascajosa J; Marieges MT
    Graefes Arch Clin Exp Ophthalmol; 2014 Nov; 252(11):1789-94. PubMed ID: 25228067
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Novel compound heterozygous variant of
    Lin Y; Chen X; Liang C; Li D; Liu L; Li X
    Eur J Ophthalmol; 2023 Sep; 33(5):NP1-NP4. PubMed ID: 36262071
    [TBL] [Abstract][Full Text] [Related]  

  • 14. The expanding phenotype of COL4A1 and COL4A2 mutations: clinical data on 13 newly identified families and a review of the literature.
    Meuwissen ME; Halley DJ; Smit LS; Lequin MH; Cobben JM; de Coo R; van Harssel J; Sallevelt S; Woldringh G; van der Knaap MS; de Vries LS; Mancini GM
    Genet Med; 2015 Nov; 17(11):843-53. PubMed ID: 25719457
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Cervical Spinal Involvement in a Chinese Pedigree With Pontine Autosomal Dominant Microangiopathy and Leukoencephalopathy Caused by a 3' Untranslated Region Mutation of COL4A1 Gene.
    Zhao YY; Duan RN; Ji L; Liu QJ; Yan CZ
    Stroke; 2019 Sep; 50(9):2307-2313. PubMed ID: 31366314
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Whole exome sequencing identified two novel homozygous missense variants in the same codon of CLCN7 underlying autosomal recessive infantile malignant osteopetrosis in a Pakistani family.
    Khan MA; Ullah A; Naeem M
    Mol Biol Rep; 2018 Aug; 45(4):565-570. PubMed ID: 29926385
    [TBL] [Abstract][Full Text] [Related]  

  • 17.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

  • 18.
    ; ; . PubMed ID:
    [No Abstract]   [Full Text] [Related]  

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

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

    [Next]    [New Search]
    of 7.