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 *

148 related articles for article (PubMed ID: 36588761)

  • 1. Mosaic Variegated Aneuploidy Syndrome and Noonan Syndrome in the Same Family.
    Hübner CT; Amin AK; Dey D; Meyer R; Eggermann T
    Mol Syndromol; 2022 Dec; 13(5):402-408. PubMed ID: 36588761
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Mosaic variegated aneuploidy syndrome 2 with biallelic novel CEP57 splice site variation in Indian siblings: Expanding the clinical and molecular spectrum.
    Langeh N; Saluja S; Ethayathulla AS; Jana M; Shukla R; Palanichamy JK; Gupta N
    Clin Genet; 2023 Apr; 103(4):478-483. PubMed ID: 36635612
    [TBL] [Abstract][Full Text] [Related]  

  • 3. A novel CEP57 variant associated with mosaic variegated aneuploidy syndrome in a Chinese female presenting with short stature, microcephaly, brachydactyly, and small teeth.
    Feng B; Chang G; Zhang Q; Li X; Tang Y; Gu S; Wang Y; Wang J; Wang X
    Mol Genet Genomic Med; 2022 Jun; 10(6):e1951. PubMed ID: 35434947
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Mosaic Variegated Aneuploidy syndrome 2 caused by biallelic variants in CEP57, two new cases and review of the phenotype.
    Santos-Simarro F; Pacio M; Cueto-González AM; Mansilla E; Valenzuela-Palafoll MI; López-Grondona F; Lledín MD; Schuffelmann C; Del Pozo Á; Solis M; Vallcorba P; Lapunzina P; Menéndez Suso JJ; Siccha SM; Montejo JM; Mena R; Jiménez-Rodríguez C; García-Miñaúr S; Palomares-Bralo M
    Eur J Med Genet; 2021 Nov; 64(11):104338. PubMed ID: 34500087
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Follow-up of two adult brothers with homozygous CEP57 pathogenic variants expands the phenotype of Mosaic Variegated Aneuploidy Syndrome.
    Dery T; Chatron N; Alqahtani A; Pugeat M; Till M; Edery P; Sanlaville D; Schluth-Bolard C; Nicolino M; Lesca G; Putoux A
    Eur J Med Genet; 2020 Nov; 63(11):104044. PubMed ID: 32861809
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Targeted/exome sequencing identified mutations in ten Chinese patients diagnosed with Noonan syndrome and related disorders.
    Xu S; Fan Y; Sun Y; Wang L; Gu X; Yu Y
    BMC Med Genomics; 2017 Oct; 10(1):62. PubMed ID: 29084544
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Mosaic variegated aneuploidy syndrome caused by a CEP57 mutation diagnosed by whole exome sequencing.
    Brightman DS; Ejaz S; Dauber A
    Clin Case Rep; 2018 Aug; 6(8):1531-1534. PubMed ID: 30147898
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Molecular and clinical profile of patients referred as Noonan or Noonan-like syndrome in Greece: a cohort of 86 patients.
    Papadopoulos G; Papadopoulou A; Kosma K; Papadimitriou A; Papaevangelou V; Kanaka-Gantenbein C; Bountouvi E; Kitsiou-Tzeli S
    Eur J Pediatr; 2022 Oct; 181(10):3691-3700. PubMed ID: 35904599
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Molecular and clinical studies in 107 Noonan syndrome affected individuals with PTPN11 mutations.
    Athota JP; Bhat M; Nampoothiri S; Gowrishankar K; Narayanachar SG; Puttamallesh V; Farooque MO; Shetty S
    BMC Med Genet; 2020 Mar; 21(1):50. PubMed ID: 32164556
    [TBL] [Abstract][Full Text] [Related]  

  • 10. CEP57 mutation in a girl with mosaic variegated aneuploidy syndrome.
    Pinson L; Mannini L; Willems M; Cucco F; Sirvent N; Frebourg T; Quarantotti V; Collet C; Schneider A; Sarda P; Geneviève D; Puechberty J; Lefort G; Musio A
    Am J Med Genet A; 2014 Jan; 164A(1):177-81. PubMed ID: 24259107
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Double homozygosity in CEP57 and DYNC2H1 genes detected by WES: Composite or expanded phenotype?
    Pezzani L; Pezzoli L; Pansa A; Facchinetti B; Marchetti D; Scatigno A; Lincesso AR; Perego L; Pingue M; Pellicioli I; Migliazza L; Mangili G; Galletti L; Giussani U; Bonanomi E; Cereda A; Iascone M
    Mol Genet Genomic Med; 2020 Mar; 8(3):e1064. PubMed ID: 31943948
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Congenital sensorineural hearing loss as the initial presentation of
    Gao X; Huang SS; Qiu SW; Su Y; Wang WQ; Xu HY; Xu JC; Kang DY; Dai P; Yuan YY
    J Med Genet; 2021 Jul; 58(7):465-474. PubMed ID: 32737134
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Pathogenic correlation between mosaic variegated aneuploidy 1 (MVA1) and a novel BUB1B variant: a reappraisal of a severe syndrome.
    Pavone P; Pappalardo XG; Mustafa N; Falsaperla R; Marino SD; Corsello G; Bianca S; Parano E; Ruggieri M
    Neurol Sci; 2022 Nov; 43(11):6529-6538. PubMed ID: 35804254
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutations in CEP57 cause mosaic variegated aneuploidy syndrome.
    Snape K; Hanks S; Ruark E; Barros-Núñez P; Elliott A; Murray A; Lane AH; Shannon N; Callier P; Chitayat D; Clayton-Smith J; Fitzpatrick DR; Gisselsson D; Jacquemont S; Asakura-Hay K; Micale MA; Tolmie J; Turnpenny PD; Wright M; Douglas J; Rahman N
    Nat Genet; 2011 Jun; 43(6):527-9. PubMed ID: 21552266
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Cochlear implantation in a patient with Noonan syndrome caused by a variant in
    Hu L; Chen J; Xin Y; Fang X; Jiao Y
    Lin Chuang Er Bi Yan Hou Tou Jing Wai Ke Za Zhi; 2021 Sep; 35(9):839-842. PubMed ID: 34628841
    [No Abstract]   [Full Text] [Related]  

  • 16. Case report: A
    Wang Q; Cheng S; Fu Y; Yuan H
    Front Genet; 2022; 13():1040124. PubMed ID: 36579329
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Clinical variability in a Noonan syndrome family with a new PTPN11 gene mutation.
    Bertola DR; Pereira AC; de Oliveira PS; Kim CA; Krieger JE
    Am J Med Genet A; 2004 Nov; 130A(4):378-83. PubMed ID: 15384080
    [TBL] [Abstract][Full Text] [Related]  

  • 18. [Clinical features and genetic analysis of a child with mosaic variegated aneuploidy syndrome].
    He T; Cui D; Huang Y; Luo X; Yang J
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2018 Dec; 35(6):844-847. PubMed ID: 30512160
    [TBL] [Abstract][Full Text] [Related]  

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

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

    [Next]    [New Search]
    of 8.