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 *

127 related articles for article (PubMed ID: 22156914)

  • 1. A new syndromic craniosynostosis with involvement of the spine, long bones, pelvis, and digits: molecular genetic and array analysis.
    Shanske AL; Goodrich JT; Ala-Kokko L; Levy B
    Clin Dysmorphol; 2012 Apr; 21(2):69-73. PubMed ID: 22156914
    [No Abstract]   [Full Text] [Related]  

  • 2. A novel de-novo frameshift mutation of the ASXL1 gene in a classic case of Bohring-Opitz syndrome.
    Arunachal G; Danda S; Omprakash S; Kumar S
    Clin Dysmorphol; 2016 Jul; 25(3):101-5. PubMed ID: 27043953
    [No Abstract]   [Full Text] [Related]  

  • 3. Craniosynostosis: a previously unreported association with CHST3-related skeletal dysplasia (autosomal recessive Larsen syndrome).
    Searle C; Jewell R; Kraft J; Stoebe P; Chumas P; Titheradge H; Kraus A; Gencik M; Hobson E
    Clin Dysmorphol; 2014 Jan; 23(1):12-15. PubMed ID: 24300290
    [No Abstract]   [Full Text] [Related]  

  • 4. Bicoronal and metopic craniosynostosis in association with a de novo unbalanced t(2;7) chromosomal translocation.
    O'Byrne JJ; Ryan H; Murray DJ; Regan R; Betts DR; Murphy N; Casey JP; Lynch SA
    Am J Med Genet A; 2017 Jan; 173(1):274-279. PubMed ID: 27774767
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Partial trisomy 17q and partial monosomy 20q in a boy with craniosynostosis.
    Marques F; Heredia R; de Oliveira C; Cardoso MT; Mazzeu J; Pogue R
    Am J Med Genet A; 2015 Feb; 167A(2):412-6. PubMed ID: 25424318
    [TBL] [Abstract][Full Text] [Related]  

  • 6. [On the effect of mutations of the fibroblast growth factor receptors as exemplified by three cases of craniosynostoses].
    Preising MN; Schindler S; Friedrich M; Wagener H; Golan I; Lorenz B
    Klin Monbl Augenheilkd; 2003 Oct; 220(10):669-81. PubMed ID: 14577033
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Second family with the Boston-type craniosynostosis syndrome: novel mutation and expansion of the clinical spectrum.
    Janssen A; Hosen MJ; Jeannin P; Coucke PJ; De Paepe A; Vanakker OM
    Am J Med Genet A; 2013 Sep; 161A(9):2352-7. PubMed ID: 23918290
    [TBL] [Abstract][Full Text] [Related]  

  • 8. Syndromic craniosynostosis due to complex chromosome 5 rearrangement and MSX2 gene triplication.
    Bernardini L; Castori M; Capalbo A; Mokini V; Mingarelli R; Simi P; Bertuccelli A; Novelli A; Dallapiccola B
    Am J Med Genet A; 2007 Dec; 143A(24):2937-43. PubMed ID: 18000908
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Integrated strategy for fast and automated molecular characterization of genes involved in craniosynostosis.
    Stenirri S; Restagno G; Ferrero GB; Alaimo G; Sbaiz L; Mari C; Genitori L; Maurizio F; Cremonesi L
    Clin Chem; 2007 Oct; 53(10):1767-74. PubMed ID: 17693524
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Shprintzen-Goldberg Syndrome: A Rare Disorder.
    Bari A; Sadaqat N; Nawaz N; Bano I
    J Coll Physicians Surg Pak; 2019 Jun; 29(6):S41-S42. PubMed ID: 31142417
    [TBL] [Abstract][Full Text] [Related]  

  • 11. CRTAP mutation in a patient with Cole-Carpenter syndrome.
    Balasubramanian M; Pollitt RC; Chandler KE; Mughal MZ; Parker MJ; Dalton A; Arundel P; Offiah AC; Bishop NJ
    Am J Med Genet A; 2015 Mar; 167A(3):587-91. PubMed ID: 25604815
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Muenke syndrome: An international multicenter natural history study.
    Kruszka P; Addissie YA; Yarnell CM; Hadley DW; Guillen Sacoto MJ; Platte P; Paelecke Y; Collmann H; Snow N; Schweitzer T; Boyadjiev SA; Aravidis C; Hall SE; Mulliken JB; Roscioli T; Muenke M
    Am J Med Genet A; 2016 Apr; 170A(4):918-29. PubMed ID: 26740388
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Ablepharon and craniosynostosis in a patient with a localized TWIST1 basic domain substitution.
    Takenouchi T; Sakamoto Y; Sato H; Suzuki H; Uehara T; Ohsone Y; Kosaki K
    Am J Med Genet A; 2018 Dec; 176(12):2777-2780. PubMed ID: 30450715
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Prominent basal emissary foramina in syndromic craniosynostosis: correlation with phenotypic and molecular diagnoses.
    Robson CD; Mulliken JB; Robertson RL; Proctor MR; Steinberger D; Barnes PD; McFarren A; Müller U; Zurakowski D
    AJNR Am J Neuroradiol; 2000 Oct; 21(9):1707-17. PubMed ID: 11039354
    [TBL] [Abstract][Full Text] [Related]  

  • 15. 16p13.11-p12.3 Microdeletion identified in a patient with sagittal craniosynostosis and developmental delay.
    Maldžienė Ž; Bulanovaitė E; Aleksiūnienė B; Utkus A; Preiksaitiene E
    Clin Dysmorphol; 2019 Oct; 28(4):195-197. PubMed ID: 31205052
    [No Abstract]   [Full Text] [Related]  

  • 16. FGFR-associated craniosynostosis syndromes and gastrointestinal defects.
    Hibberd CE; Bowdin S; Arudchelvan Y; Forrest CR; Brakora KA; Marcucio RS; Gong SG
    Am J Med Genet A; 2016 Dec; 170(12):3215-3221. PubMed ID: 27481450
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Eight patients with Williams syndrome and craniosynostosis.
    Ueda K; Yamada J; Takemoto O; Okamoto N
    Eur J Med Genet; 2015; 58(6-7):355-7. PubMed ID: 26002408
    [TBL] [Abstract][Full Text] [Related]  

  • 18. The evolving craniofacial phenotype of a patient with Sensenbrenner syndrome caused by IFT140 compound heterozygous mutations.
    Bayat A; Kerr B; Douzgou S;
    Clin Dysmorphol; 2017 Oct; 26(4):247-251. PubMed ID: 28288023
    [No Abstract]   [Full Text] [Related]  

  • 19. Multiple craniosynostosis and facial dysmorphisms with homozygous IL11RA variant caused by maternal uniparental isodisomy of chromosome 9.
    Nishimura N; Murakami H; Hayashi T; Sato H; Kurosawa K
    Congenit Anom (Kyoto); 2020 Sep; 60(5):153-155. PubMed ID: 32277509
    [No Abstract]   [Full Text] [Related]  

  • 20. [Diagnosis and therapy of syndromic and non-syndromic craniosynostosis].
    Cedzich C; Farmand M
    HNO; 2003 Mar; 51(3):198-208. PubMed ID: 12627247
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 7.