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 *

240 related articles for article (PubMed ID: 22865833)

  • 1. Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism.
    Alazami AM; Al-Owain M; Alzahrani F; Shuaib T; Al-Shamrani H; Al-Falki YH; Al-Qahtani SM; Alsheddi T; Colak D; Alkuraya FS
    Hum Mutat; 2012 Oct; 33(10):1429-34. PubMed ID: 22865833
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Broadening the phenotypic spectrum of pathogenic LARP7 variants: two cases with intellectual disability, variable growth retardation and distinct facial features.
    Hollink IH; Alfadhel M; Al-Wakeel AS; Ababneh F; Pfundt R; de Man SA; Jamra RA; Rolfs A; Bertoli-Avella AM; van de Laar IM
    J Hum Genet; 2016 Mar; 61(3):229-33. PubMed ID: 26607181
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Compound heterozygous variants in the LARP7 gene as a cause of Alazami syndrome in a Caucasian female with significant failure to thrive, short stature, and developmental disability.
    Ling TT; Sorrentino S
    Am J Med Genet A; 2016 Jan; 170A(1):217-9. PubMed ID: 26374271
    [TBL] [Abstract][Full Text] [Related]  

  • 4. LARP7 variants and further delineation of the Alazami syndrome phenotypic spectrum among primordial dwarfisms: 2 sisters.
    Imbert-Bouteille M; Mau Them FT; Thevenon J; Guignard T; Gatinois V; Riviere JB; Boland A; Meyer V; Deleuze JF; Sanchez E; Apparailly F; Geneviève D; Willems M
    Eur J Med Genet; 2019 Mar; 62(3):161-166. PubMed ID: 30006060
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Novel de novo mutation in ZBTB20 in primrose syndrome in boy with short stature.
    Grímsdóttir S; Hove HB; Kreiborg S; Ek J; Johansen A; Darvann TA; Hermann NV
    Clin Dysmorphol; 2019 Jan; 28(1):41-45. PubMed ID: 30256248
    [No Abstract]   [Full Text] [Related]  

  • 6. Novel Mutation in
    Kazemi G; Peymani F; Mohseni M; Zare Ashrafi F; Arzhangi S; Ardalani F; Aghakhani Moghaddam F; Kahrizi K; Najmabadi H
    Arch Iran Med; 2020 Dec; 23(12):842-847. PubMed ID: 33356342
    [TBL] [Abstract][Full Text] [Related]  

  • 7. The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy.
    Courcet JB; Faivre L; Malzac P; Masurel-Paulet A; Lopez E; Callier P; Lambert L; Lemesle M; Thevenon J; Gigot N; Duplomb L; Ragon C; Marle N; Mosca-Boidron AL; Huet F; Philippe C; Moncla A; Thauvin-Robinet C
    J Med Genet; 2012 Dec; 49(12):731-6. PubMed ID: 23099646
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Further phenotypic delineation of Alazami syndrome.
    Al-Hinai A; Al-Hashmi S; Ganesh A; Al-Hashmi N; Al-Saegh A; Al-Mamari W; Al-Murshedi F; Al-Thihli K; Al-Kindi A; Al-Maawali A
    Am J Med Genet A; 2022 Aug; 188(8):2485-2490. PubMed ID: 35567578
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel de novo 1.8 Mb microdeletion of 17q21.33 associated with intellectual disability and dysmorphic features.
    Preiksaitiene E; Männik K; Dirse V; Utkus A; Ciuladaite Z; Kasnauskiene J; Kurg A; Kučinskas V
    Eur J Med Genet; 2012 Nov; 55(11):656-9. PubMed ID: 22842074
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel CENPJ mutation causes Seckel syndrome.
    Al-Dosari MS; Shaheen R; Colak D; Alkuraya FS
    J Med Genet; 2010 Jun; 47(6):411-4. PubMed ID: 20522431
    [TBL] [Abstract][Full Text] [Related]  

  • 11. POC1A truncation mutation causes a ciliopathy in humans characterized by primordial dwarfism.
    Shaheen R; Faqeih E; Shamseldin HE; Noche RR; Sunker A; Alshammari MJ; Al-Sheddi T; Adly N; Al-Dosari MS; Megason SG; Al-Husain M; Al-Mohanna F; Alkuraya FS
    Am J Hum Genet; 2012 Aug; 91(2):330-6. PubMed ID: 22840364
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Genomic analysis of primordial dwarfism reveals novel disease genes.
    Shaheen R; Faqeih E; Ansari S; Abdel-Salam G; Al-Hassnan ZN; Al-Shidi T; Alomar R; Sogaty S; Alkuraya FS
    Genome Res; 2014 Feb; 24(2):291-9. PubMed ID: 24389050
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Mutation in TTI2 reveals a role for triple T complex in human brain development.
    Langouët M; Saadi A; Rieunier G; Moutton S; Siquier-Pernet K; Fernet M; Nitschke P; Munnich A; Stern MH; Chaouch M; Colleaux L
    Hum Mutat; 2013 Nov; 34(11):1472-6. PubMed ID: 23956177
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Mutation in PLK4, encoding a master regulator of centriole formation, defines a novel locus for primordial dwarfism.
    Shaheen R; Al Tala S; Almoisheer A; Alkuraya FS
    J Med Genet; 2014 Dec; 51(12):814-6. PubMed ID: 25320347
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Primordial dwarfism gene maintains Lin28 expression to safeguard embryonic stem cells from premature differentiation.
    Dai Q; Luan G; Deng L; Lei T; Kang H; Song X; Zhang Y; Xiao ZX; Li Q
    Cell Rep; 2014 May; 7(3):735-46. PubMed ID: 24768001
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Stabilize and connect: the role of LARP7 in nuclear non-coding RNA metabolism.
    Hasler D; Meister G; Fischer U
    RNA Biol; 2021 Feb; 18(2):290-303. PubMed ID: 32401147
    [TBL] [Abstract][Full Text] [Related]  

  • 17. GeneMatcher aids in the identification of a new malformation syndrome with intellectual disability, unique facial dysmorphisms, and skeletal and connective tissue abnormalities caused by de novo variants in HNRNPK.
    Au PYB; You J; Caluseriu O; Schwartzentruber J; Majewski J; Bernier FP; Ferguson M; ; Valle D; Parboosingh JS; Sobreira N; Innes AM; Kline AD
    Hum Mutat; 2015 Oct; 36(10):1009-1014. PubMed ID: 26173930
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A de novo 1q23.3-q24.2 deletion combined with a GORAB missense mutation causes a distinctive phenotype with cutis laxa.
    Al-Bughaili M; Neuhann TM; Flöttmann R; Mundlos S; Spielmann M; Kornak U; Fischer-Zirnsak B
    J Hum Genet; 2017 Feb; 62(2):325-328. PubMed ID: 27604556
    [TBL] [Abstract][Full Text] [Related]  

  • 19. X-linked Aarskog syndrome: report on a novel FGD1 gene mutation. Executive dysfunction as part of the behavioural phenotype.
    Verhoeven WM; Egger JI; Hoogeboom AJ
    Genet Couns; 2012; 23(2):157-67. PubMed ID: 22876573
    [TBL] [Abstract][Full Text] [Related]  

  • 20. De novo satellited 2q associated with corpus callosum dysgenesis, short stature, mental retardation and developmental delay.
    Chen CP; Lin SP; Huang YL; Chern SR; Su JW; Lee CC; Chen WL; Wang W
    Genet Couns; 2012; 23(4):497-503. PubMed ID: 23431751
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 12.