BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

338 related articles for article (PubMed ID: 29463858)

  • 1. Clinical and genetic spectrum of AMPD2-related pontocerebellar hypoplasia type 9.
    Kortüm F; Jamra RA; Alawi M; Berry SA; Borck G; Helbig KL; Tang S; Huhle D; Korenke GC; Hebbar M; Shukla A; Girisha KM; Steinlin M; Waldmeier-Wilhelm S; Montomoli M; Guerrini R; Lemke JR; Kutsche K
    Eur J Hum Genet; 2018 May; 26(5):695-708. PubMed ID: 29463858
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Homozygous variants in AMPD2 and COL11A1 lead to a complex phenotype of pontocerebellar hypoplasia type 9 and Stickler syndrome type 2.
    Abreu NJ; Koboldt DC; Gastier-Foster JM; Dave-Wala A; Flanigan KM; Waldrop MA
    Am J Med Genet A; 2020 Mar; 182(3):557-560. PubMed ID: 31833174
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Delineating the phenotype and genetic basis of AMPD2-related pontocerebellar hypoplasia.
    Gilboa T; Elefant N; Meiner V; Hacohen N
    Neurogenetics; 2023 Jan; 24(1):61-66. PubMed ID: 36445597
    [TBL] [Abstract][Full Text] [Related]  

  • 4. CUGC for pontocerebellar hypoplasia type 9 and spastic paraplegia-63.
    Marsh APL; Novarino G; Lockhart PJ; Leventer RJ
    Eur J Hum Genet; 2019 Jan; 27(1):161-166. PubMed ID: 30089829
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Neuroradiological findings in three cases of pontocerebellar hypoplasia type 9 due to
    Scola E; Ganau M; Robinson R; Cleary M; De Cocker LJL; Mankad K; Triulzi F; D'Arco F
    Quant Imaging Med Surg; 2019 Dec; 9(12):1966-1972. PubMed ID: 31929969
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Pontocerebellar hypoplasia type 11: Does the genetic defect determine timing of cerebellar pathology?
    Laugwitz L; Buchert R; Groeschel S; Riess A; Grimmel M; Beck-Wödl S; Sturm M; Gohla G; Döbler-Neumann M; Krägeloh-Mann I; Haack TB
    Eur J Med Genet; 2020 Jul; 63(7):103938. PubMed ID: 32360255
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Homozygous Truncating Variants in TBC1D23 Cause Pontocerebellar Hypoplasia and Alter Cortical Development.
    Ivanova EL; Mau-Them FT; Riazuddin S; Kahrizi K; Laugel V; Schaefer E; de Saint Martin A; Runge K; Iqbal Z; Spitz MA; Laura M; Drouot N; Gérard B; Deleuze JF; de Brouwer APM; Razzaq A; Dollfus H; Assir MZ; Nitchké P; Hinckelmann MV; Ropers H; Riazuddin S; Najmabadi H; van Bokhoven H; Chelly J
    Am J Hum Genet; 2017 Sep; 101(3):428-440. PubMed ID: 28823707
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Complete callosal agenesis, pontocerebellar hypoplasia, and axonal neuropathy due to AMPD2 loss.
    Marsh AP; Lukic V; Pope K; Bromhead C; Tankard R; Ryan MM; Yiu EM; Sim JC; Delatycki MB; Amor DJ; McGillivray G; Sherr EH; Bahlo M; Leventer RJ; Lockhart PJ
    Neurol Genet; 2015 Aug; 1(2):e16. PubMed ID: 27066553
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Teaching Neuro
    Severino M; Zara F; Rossi A; Striano P
    Neurology; 2017 Oct; 89(14):e172-e173. PubMed ID: 28972112
    [No Abstract]   [Full Text] [Related]  

  • 10. Homozygous Mutations in TBC1D23 Lead to a Non-degenerative Form of Pontocerebellar Hypoplasia.
    Marin-Valencia I; Gerondopoulos A; Zaki MS; Ben-Omran T; Almureikhi M; Demir E; Guemez-Gamboa A; Gregor A; Issa MY; Appelhof B; Roosing S; Musaev D; Rosti B; Wirth S; Stanley V; Baas F; Barr FA; Gleeson JG
    Am J Hum Genet; 2017 Sep; 101(3):441-450. PubMed ID: 28823706
    [TBL] [Abstract][Full Text] [Related]  

  • 11. A novel AMPD2 mutation outside the AMP deaminase domain causes pontocerebellar hypoplasia type 9.
    Marsh AP; Yap P; Tan T; Pope K; White SM; Chong B; Mcgillivray G; Boys A; Stephenson SE; Leventer RJ; Stark Z; Lockhart PJ
    Am J Med Genet A; 2017 Mar; 173(3):820-823. PubMed ID: 28168832
    [No Abstract]   [Full Text] [Related]  

  • 12. Broadening the phenotype and genotype spectrum of novel mutations in pontocerebellar hypoplasia with a comprehensive molecular literature review.
    Ghasemi MR; Tehrani Fateh S; Moeinafshar A; Sadeghi H; Karimzadeh P; Mirfakhraie R; Rezaei M; Hashemi-Gorji F; Rezvani Kashani M; Fazeli Bavandpour F; Bagheri S; Moghimi P; Rostami M; Madannejad R; Roudgari H; Miryounesi M
    BMC Med Genomics; 2024 Feb; 17(1):51. PubMed ID: 38347586
    [TBL] [Abstract][Full Text] [Related]  

  • 13. The syndrome of autosomal recessive pontocerebellar hypoplasia, microcephaly, and extrapyramidal dyskinesia (pontocerebellar hypoplasia type 2): compiled data from 10 pedigrees.
    Barth PG; Blennow G; Lenard HG; Begeer JH; van der Kley JM; Hanefeld F; Peters AC; Valk J
    Neurology; 1995 Feb; 45(2):311-7. PubMed ID: 7854532
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Biallelic loss of function variants in COASY cause prenatal onset pontocerebellar hypoplasia, microcephaly, and arthrogryposis.
    van Dijk T; Ferdinandusse S; Ruiter JPN; Alders M; Mathijssen IB; Parboosingh JS; Innes AM; Meijers-Heijboer H; Poll-The BT; Bernier FP; Wanders RJA; Lamont RE; Baas F
    Eur J Hum Genet; 2018 Dec; 26(12):1752-1758. PubMed ID: 30089828
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Pontocerebellar hypoplasia with rhombencephalosynapsis and microlissencephaly expands the spectrum of PCH type 1B.
    Saugier-Veber P; Marguet F; Vezain M; Bucourt M; Letard P; Delahaye A; Pipiras E; Frébourg T; Gonzalez B; Laquerrière A
    Eur J Med Genet; 2020 Apr; 63(4):103814. PubMed ID: 31770597
    [TBL] [Abstract][Full Text] [Related]  

  • 16. COASY related pontocerebellar hypoplasia type 12: A common Indian mutation with expansion of the phenotypic spectrum.
    Mishra R; Kulshreshtha S; Mandal K; Khurana A; Diego-Álvarez D; Pradas L; Saxena R; Phadke S; Moirangthem A; Masih S; Sud S; Verma IC; Dua Puri R
    Am J Med Genet A; 2022 Aug; 188(8):2339-2350. PubMed ID: 35499143
    [TBL] [Abstract][Full Text] [Related]  

  • 17. A SEPSECS mutation in a 23-year-old woman with microcephaly and progressive cerebellar ataxia.
    van Dijk T; Vermeij JD; van Koningsbruggen S; Lakeman P; Baas F; Poll-The BT
    J Inherit Metab Dis; 2018 Sep; 41(5):897-898. PubMed ID: 29464431
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Pontocerebellar hypoplasia type 2 and TSEN2: review of the literature and two novel mutations.
    Bierhals T; Korenke GC; Uyanik G; Kutsche K
    Eur J Med Genet; 2013 Jun; 56(6):325-30. PubMed ID: 23562994
    [TBL] [Abstract][Full Text] [Related]  

  • 19. MR findings in pontocerebellar hypoplasia.
    Uhl M; Pawlik H; Laubenberger J; Darge K; Baborie A; Korinthenberg R; Langer M
    Pediatr Radiol; 1998 Jul; 28(7):547-51. PubMed ID: 9662582
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Autosomal-Recessive Mutations in the tRNA Splicing Endonuclease Subunit TSEN15 Cause Pontocerebellar Hypoplasia and Progressive Microcephaly.
    Breuss MW; Sultan T; James KN; Rosti RO; Scott E; Musaev D; Furia B; Reis A; Sticht H; Al-Owain M; Alkuraya FS; Reuter MS; Abou Jamra R; Trotta CR; Gleeson JG
    Am J Hum Genet; 2016 Jul; 99(1):228-35. PubMed ID: 27392077
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 17.