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 *

254 related articles for article (PubMed ID: 25125150)

  • 1. NDST1 missense mutations in autosomal recessive intellectual disability.
    Reuter MS; Musante L; Hu H; Diederich S; Sticht H; Ekici AB; Uebe S; Wienker TF; Bartsch O; Zechner U; Oppitz C; Keleman K; Jamra RA; Najmabadi H; Schweiger S; Reis A; Kahrizi K
    Am J Med Genet A; 2014 Nov; 164A(11):2753-63. PubMed ID: 25125150
    [TBL] [Abstract][Full Text] [Related]  

  • 2. A girl with developmental delay, ataxia, cranial nerve palsies, severe respiratory problems in infancy-Expanding NDST1 syndrome.
    Armstrong L; Tarailo-Graovac M; Sinclair G; Seath KI; Wasserman WW; Ross CJ; van Karnebeek CD
    Am J Med Genet A; 2017 Mar; 173(3):712-715. PubMed ID: 28211985
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Loss of NDST1 N-sulfotransferase activity is associated with autosomal recessive intellectual disability.
    Khosrowabadi E; Mignon-Ravix C; Riccardi F; Cacciagli P; Desnous B; Sigaudy S; Milh M; Villard L; Kjellén L; Molinari F
    Hum Mol Genet; 2024 Feb; 33(6):520-529. PubMed ID: 38129107
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Two Cases of Recessive Intellectual Disability Caused by
    Khan A; Miao Z; Umair M; Ullah A; Alshabeeb MA; Bilal M; Ahmad F; Rappold GA; Ansar M; Carapito R
    Genes (Basel); 2020 Aug; 11(9):. PubMed ID: 32878022
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Mutations in the alpha 1,2-mannosidase gene, MAN1B1, cause autosomal-recessive intellectual disability.
    Rafiq MA; Kuss AW; Puettmann L; Noor A; Ramiah A; Ali G; Hu H; Kerio NA; Xiang Y; Garshasbi M; Khan MA; Ishak GE; Weksberg R; Ullmann R; Tzschach A; Kahrizi K; Mahmood K; Naeem F; Ayub M; Moremen KW; Vincent JB; Ropers HH; Ansar M; Najmabadi H
    Am J Hum Genet; 2011 Jul; 89(1):176-82. PubMed ID: 21763484
    [TBL] [Abstract][Full Text] [Related]  

  • 6. A novel variant of C12orf4 in a consanguineous Armenian family confirms the etiology of autosomal recessive intellectual disability type 66 with delineation of the phenotype.
    Hancarova M; Babikyan D; Bendova S; Midyan S; Prchalova D; Shahsuvaryan G; Stranecky V; Sarkisian T; Sedlacek Z
    Mol Genet Genomic Med; 2019 Sep; 7(9):e865. PubMed ID: 31334606
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Autosomal recessive congenital cataract, intellectual disability phenotype linked to STX3 in a consanguineous Tunisian family.
    Chograni M; Alkuraya FS; Ourteni I; Maazoul F; Lariani I; Chaabouni HB
    Clin Genet; 2015 Sep; 88(3):283-7. PubMed ID: 25358429
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Mutations in NSUN2 cause autosomal-recessive intellectual disability.
    Abbasi-Moheb L; Mertel S; Gonsior M; Nouri-Vahid L; Kahrizi K; Cirak S; Wieczorek D; Motazacker MM; Esmaeeli-Nieh S; Cremer K; Weißmann R; Tzschach A; Garshasbi M; Abedini SS; Najmabadi H; Ropers HH; Sigrist SJ; Kuss AW
    Am J Hum Genet; 2012 May; 90(5):847-55. PubMed ID: 22541559
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Mutations in the genes for thyroglobulin and thyroid peroxidase cause thyroid dyshormonogenesis and autosomal-recessive intellectual disability.
    Mittal K; Rafiq MA; Rafiullah R; Harripaul R; Ali H; Ayaz M; Aslam M; Naeem F; Amin-Ud-Din M; Waqas A; So J; Rappold GA; Vincent JB; Ayub M
    J Hum Genet; 2016 Oct; 61(10):867-872. PubMed ID: 27305979
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Two novel EIF2S3 mutations associated with syndromic intellectual disability with severe microcephaly, growth retardation, and epilepsy.
    Moortgat S; Désir J; Benoit V; Boulanger S; Pendeville H; Nassogne MC; Lederer D; Maystadt I
    Am J Med Genet A; 2016 Nov; 170(11):2927-2933. PubMed ID: 27333055
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Autosomal recessive mutations in THOC6 cause intellectual disability: syndrome delineation requiring forward and reverse phenotyping.
    Amos JS; Huang L; Thevenon J; Kariminedjad A; Beaulieu CL; Masurel-Paulet A; Najmabadi H; Fattahi Z; Beheshtian M; Tonekaboni SH; Tang S; Helbig KL; Alcaraz W; Rivière JB; Faivre L; Innes AM; Lebel RR; Boycott KM;
    Clin Genet; 2017 Jan; 91(1):92-99. PubMed ID: 27102954
    [TBL] [Abstract][Full Text] [Related]  

  • 12. A missense mutation in the
    Sheereen A; Alaamery M; Bawazeer S; Al Yafee Y; Massadeh S; Eyaid W
    J Med Genet; 2017 Apr; 54(4):236-240. PubMed ID: 28143899
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Enzymatically active N-deacetylase/N-sulfotransferase-2 is present in liver but does not contribute to heparan sulfate N-sulfation.
    Ledin J; Ringvall M; Thuveson M; Eriksson I; Wilén M; Kusche-Gullberg M; Forsberg E; Kjellén L
    J Biol Chem; 2006 Nov; 281(47):35727-34. PubMed ID: 16984905
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Expanding the clinical and mutational spectrum of Kaufman oculocerebrofacial syndrome with biallelic UBE3B mutations.
    Basel-Vanagaite L; Yilmaz R; Tang S; Reuter MS; Rahner N; Grange DK; Mortenson M; Koty P; Feenstra H; Farwell Gonzalez KD; Sticht H; Boddaert N; Désir J; Anyane-Yeboa K; Zweier C; Reis A; Kubisch C; Jewett T; Zeng W; Borck G
    Hum Genet; 2014 Jul; 133(7):939-49. PubMed ID: 24615390
    [TBL] [Abstract][Full Text] [Related]  

  • 15. GPT2 mutations in autosomal recessive developmental disability: extending the clinical phenotype and population prevalence estimates.
    Ouyang Q; Kavanaugh BC; Joesch-Cohen L; Dubois B; Wu Q; Schmidt M; Baytas O; Pastore SF; Harripaul R; Mishra S; Hussain A; Kim KH; Holler-Managan YF; Ayub M; Mir A; Vincent JB; Liu JS; Morrow EM
    Hum Genet; 2019 Oct; 138(10):1183-1200. PubMed ID: 31471722
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Clinical characterization, genetic mapping and whole-genome sequence analysis of a novel autosomal recessive intellectual disability syndrome.
    Kaasinen E; Rahikkala E; Koivunen P; Miettinen S; Wamelink MM; Aavikko M; Palin K; Myllyharju J; Moilanen JS; Pajunen L; Karhu A; Aaltonen LA
    Eur J Med Genet; 2014 Oct; 57(10):543-51. PubMed ID: 25078763
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Mutations in NALCN cause an autosomal-recessive syndrome with severe hypotonia, speech impairment, and cognitive delay.
    Al-Sayed MD; Al-Zaidan H; Albakheet A; Hakami H; Kenana R; Al-Yafee Y; Al-Dosary M; Qari A; Al-Sheddi T; Al-Muheiza M; Al-Qubbaj W; Lakmache Y; Al-Hindi H; Ghaziuddin M; Colak D; Kaya N
    Am J Hum Genet; 2013 Oct; 93(4):721-6. PubMed ID: 24075186
    [TBL] [Abstract][Full Text] [Related]  

  • 18. A recessive syndrome of intellectual disability, moderate overgrowth, and renal dysplasia predisposing to Wilms tumor is caused by a mutation in FIBP gene.
    Akawi N; Ben-Salem S; Lahti L; Partanen J; Ali BR; Al-Gazali L
    Am J Med Genet A; 2016 Aug; 170(8):2111-8. PubMed ID: 27183861
    [TBL] [Abstract][Full Text] [Related]  

  • 19. BRF1 mutations alter RNA polymerase III-dependent transcription and cause neurodevelopmental anomalies.
    Borck G; Hög F; Dentici ML; Tan PL; Sowada N; Medeira A; Gueneau L; Thiele H; Kousi M; Lepri F; Wenzeck L; Blumenthal I; Radicioni A; Schwarzenberg TL; Mandriani B; Fischetto R; Morris-Rosendahl DJ; Altmüller J; Reymond A; Nürnberg P; Merla G; Dallapiccola B; Katsanis N; Cramer P; Kubisch C
    Genome Res; 2015 Feb; 25(2):155-66. PubMed ID: 25561519
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Delineation of the KIAA2022 mutation phenotype: two patients with X-linked intellectual disability and distinctive features.
    Kuroda Y; Ohashi I; Naruto T; Ida K; Enomoto Y; Saito T; Nagai J; Wada T; Kurosawa K
    Am J Med Genet A; 2015 Jun; 167(6):1349-53. PubMed ID: 25900396
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 13.