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 *

153 related articles for article (PubMed ID: 22302400)

  • 1. The neurologic findings in Taybi-Linder syndrome (MOPD I/III): case report and review of the literature.
    Pierce MJ; Morse RP
    Am J Med Genet A; 2012 Mar; 158A(3):606-10. PubMed ID: 22302400
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Refining the phenotypical and mutational spectrum of Taybi-Linder syndrome.
    Putoux A; Alqahtani A; Pinson L; Paulussen AD; Michel J; Besson A; Mazoyer S; Borg I; Nampoothiri S; Vasiljevic A; Uwineza A; Boggio D; Champion F; de Die-Smulders CE; Gardeitchik T; van Putten WK; Perez MJ; Musizzano Y; Razavi F; Drunat S; Verloes A; Hennekam R; Guibaud L; Alix E; Sanlaville D; Lesca G; Edery P
    Clin Genet; 2016 Dec; 90(6):550-555. PubMed ID: 27040866
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Immunodeficiency in a patient with microcephalic osteodysplastic primordial dwarfism type I as compared to Roifman syndrome.
    Hagiwara H; Matsumoto H; Uematsu K; Zaha K; Sekinaka Y; Miyake N; Matsumoto N; Nonoyama S
    Brain Dev; 2021 Feb; 43(2):337-342. PubMed ID: 33059947
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.
    Sigaudy S; Toutain A; Moncla A; Fredouille C; Bourlière B; Ayme S; Philip N
    Am J Med Genet; 1998 Oct; 80(1):16-24. PubMed ID: 9800907
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Identification of compound heterozygous variants in the noncoding RNU4ATAC gene in a Chinese family with two successive foetuses with severe microcephaly.
    Wang Y; Wu X; Du L; Zheng J; Deng S; Bi X; Chen Q; Xie H; Férec C; Cooper DN; Luo Y; Fang Q; Chen JM
    Hum Genomics; 2018 Jan; 12(1):3. PubMed ID: 29370840
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
    Bober MB; Jackson AP
    Curr Osteoporos Rep; 2017 Apr; 15(2):61-69. PubMed ID: 28409412
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Bone structure in two adult subjects with impaired minor spliceosome function resulting from RNU4ATAC mutations causing microcephalic osteodysplastic primordial dwarfism type 1 (MOPD1).
    Krøigård AB; Frost M; Larsen MJ; Ousager LB; Frederiksen AL
    Bone; 2016 Nov; 92():145-149. PubMed ID: 27591150
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A homozygous mutation in RNU4ATAC as a cause of microcephalic osteodysplastic primordial dwarfism type I (MOPD I) with associated pigmentary disorder.
    Abdel-Salam GM; Miyake N; Eid MM; Abdel-Hamid MS; Hassan NA; Eid OM; Effat LK; El-Badry TH; El-Kamah GY; El-Darouti M; Matsumoto N
    Am J Med Genet A; 2011 Nov; 155A(11):2885-96. PubMed ID: 21990275
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Cephaloskeletal dysplasia (Taybi-Linder syndrome: osteodysplastic primordial dwarfism type III): report of two cases and review of the literature.
    Vichi GF; Currarino G; Wasserman RL; Duvina PL; Filippi L
    Pediatr Radiol; 2000 Sep; 30(9):644-52. PubMed ID: 11009306
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Microcephalic osteodysplastic primordial dwarfism type I with biallelic mutations in the RNU4ATAC gene.
    Nagy R; Wang H; Albrecht B; Wieczorek D; Gillessen-Kaesbach G; Haan E; Meinecke P; de la Chapelle A; Westman JA
    Clin Genet; 2012 Aug; 82(2):140-6. PubMed ID: 21815888
    [TBL] [Abstract][Full Text] [Related]  

  • 11. "Ocular moyamoya" syndrome in a patient with features of microcephalic osteodysplastic primordial dwarfism type II.
    Bang GM; Kirmani S; Patton A; Pulido JS; Brodsky MC
    J AAPOS; 2013 Feb; 17(1):100-2. PubMed ID: 23337351
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.
    Klinge L; Schaper J; Wieczorek D; Voit T
    Neuropediatrics; 2002 Dec; 33(6):309-13. PubMed ID: 12571786
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Effect of recombinant insulin-like growth factor-1 treatment on short-term linear growth in a child with Majewski osteodysplastic primordial dwarfism type II and hepatic insufficiency.
    Faienza MF; Acquafredda A; D'Aniello M; Soldano L; Marzano F; Ventura A; Cavallo L
    J Pediatr Endocrinol Metab; 2013; 26(7-8):771-4. PubMed ID: 23612698
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Neurologic aspects of microcephalic osteodysplastic primordial dwarfism type II.
    Galasso C; Lo-Castro A; Lalli C; Cerminara C; Curatolo P
    Pediatr Neurol; 2008 Jun; 38(6):435-8. PubMed ID: 18486828
    [TBL] [Abstract][Full Text] [Related]  

  • 15. [Sublethal microcephalic chondrodysplasia. Taybi-Linder syndrome, primordial microcephalic nanism types I and III].
    Maroteaux P; Badoual J
    Arch Fr Pediatr; 1990 Feb; 47(2):103-6. PubMed ID: 2327863
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Microcephalic osteodysplastic primordial dwarfism and cephalo-skeletal dysplasia (Taybi-Linder syndrome).
    Taybi H
    Am J Med Genet; 1992 Jun; 43(3):628-9. PubMed ID: 1605263
    [No Abstract]   [Full Text] [Related]  

  • 17. Microcephalic, osteodysplastic, primordial dwarfism.
    Kozlowski K; Donovan T; Masel J; Wright RG
    Australas Radiol; 1993 Feb; 37(1):111-4. PubMed ID: 8323498
    [TBL] [Abstract][Full Text] [Related]  

  • 18. Ultrasonographic prenatal diagnosis of microcephalic osteodysplastic primordial dwarfism types I/III.
    Nadjari M; Fasouliotis SJ; Ariel I; Raas-Rothschild A; Bar-Ziv J; Elchalal U
    Prenat Diagn; 2000 Aug; 20(8):666-9. PubMed ID: 10951479
    [TBL] [Abstract][Full Text] [Related]  

  • 19. A 17-month-old with extreme prenatal-onset growth delay. Microcephalic osteodysplastic primordial dwarfism type II.
    Tekin M; Ng J; Bodurtha J
    Eur J Pediatr; 2000 Dec; 159(12):926-8. PubMed ID: 11131353
    [No Abstract]   [Full Text] [Related]  

  • 20. The expanding phenotype of RNU4ATAC pathogenic variants to Lowry Wood syndrome.
    Farach LS; Little ME; Duker AL; Logan CV; Jackson A; Hecht JT; Bober M
    Am J Med Genet A; 2018 Feb; 176(2):465-469. PubMed ID: 29265708
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 8.