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 *

204 related articles for article (PubMed ID: 24551984)

  • 21. Case report. Microcephalic osteodysplastic primordial dwarfism type II: a child with unusual symptoms and clinical course.
    Spranger S; Tariverdian G; Albert FK; Sontheimer D; Zöller J; Weber M; Tröger J
    Eur J Pediatr; 1996 Sep; 155(9):796-9. PubMed ID: 8874115
    [TBL] [Abstract][Full Text] [Related]  

  • 22. Schizophrenia in microcephalic osteodysplastic primordial dwarfism type II syndrome: supporting evidence for an association between the PCNT gene and schizophrenia.
    Ozel F; Direk N; Ataseven Kulali M; Giray Bozkaya O; Ada E; Alptekin K
    Psychiatr Genet; 2019 Apr; 29(2):57-60. PubMed ID: 30531648
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Pachygyria in a girl with microcephalic osteodysplastic primordial short stature type II.
    Ozawa H; Takayama C; Nishida A; Nagai T; Nishimura G; Higurashi M
    Brain Dev; 2005 Apr; 27(3):237-40. PubMed ID: 15737708
    [TBL] [Abstract][Full Text] [Related]  

  • 24. Microcephalic osteodysplastic primordial dwarfism type II: Additional nine patients with implications on phenotype and genotype correlation.
    Abdel-Salam GMH; Sayed ISM; Afifi HH; Abdel-Ghafar SF; Abouzaid MR; Ismail SI; Aglan MS; Issa MY; El-Bassyouni HT; El-Kamah G; Effat LK; Eid M; Zaki MS; Temtamy SA; Abdel-Hamid MS
    Am J Med Genet A; 2020 Jun; 182(6):1407-1420. PubMed ID: 32267100
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Identification of two novel critical mutations in PCNT gene resulting in microcephalic osteodysplastic primordial dwarfism type II associated with multiple intracranial aneurysms.
    Li FF; Wang XD; Zhu MW; Lou ZH; Zhang Q; Zhu CY; Feng HL; Lin ZG; Liu SL
    Metab Brain Dis; 2015 Dec; 30(6):1387-94. PubMed ID: 26231886
    [TBL] [Abstract][Full Text] [Related]  

  • 26. Ocular characteristics in a variant microcephalic primordial dwarfism type II.
    Chen WJ; Huang FC; Shih MH
    BMC Pediatr; 2019 Sep; 19(1):329. PubMed ID: 31510961
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Identification of three novel mutations in PCNT in vietnamese patients with microcephalic osteodysplastic primordial dwarfism type II.
    Nguyen TH; Nguyen NL; Vu CD; Ngoc CTB; Nguyen NK; Nguyen HH
    Genes Genomics; 2021 Feb; 43(2):115-121. PubMed ID: 33460028
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Surgical outcomes of Majewski osteodysplastic primordial dwarfism Type II with intracranial vascular anomalies.
    Teo M; Johnson JN; Bell-Stephens TE; Marks MP; Do HM; Dodd RL; Bober MB; Steinberg GK
    J Neurosurg Pediatr; 2016 Dec; 25(6):717-723. PubMed ID: 27611897
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Neonatal cholestasis and focal medullary dysplasia of the kidneys in a case of microcephalic osteodysplastic primordial dwarfism.
    Berger A; Haschke N; Kohlhauser C; Amman G; Unterberger U; Weninger M
    J Med Genet; 1998 Jan; 35(1):61-4. PubMed ID: 9475098
    [TBL] [Abstract][Full Text] [Related]  

  • 30. 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]  

  • 31. A new mutation of the PCNT gene in a Colombian patient with microcephalic osteodysplastic primordial dwarfism type II: a case report.
    Pachajoa H; Ruiz-Botero F; Isaza C
    J Med Case Rep; 2014 Jun; 8():191. PubMed ID: 24928221
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Microcephalic osteodysplastic primordial dwarfism type II (MOPD II) with multiple vascular complications misdiagnosed as Dubowitz syndrome.
    Dieks JK; Baumer A; Wilichowski E; Rauch A; Sigler M
    Eur J Pediatr; 2014 Sep; 173(9):1253-6. PubMed ID: 24973050
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Microcephalic osteodysplastic primordial dwarfism type II.
    al Gazali LI; Hamada M; Lytle W
    Clin Dysmorphol; 1995 Jul; 4(3):234-8. PubMed ID: 7551160
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Caroline Crachami and the delineation of osteodysplastic primordial dwarfism type III, and autosomal recessive syndrome.
    Majewski F
    Am J Med Genet; 1992 Sep; 44(2):203-9. PubMed ID: 1456293
    [No Abstract]   [Full Text] [Related]  

  • 35. Clinical and roentgenographic findings in a patient with primordial microcephalic dwarfism type Caroline Crachami.
    Boscherini B; Colabucci F; Galasso C; Marietti G; Cappa M; Pasquino AM
    Am J Med Genet; 1996 Dec; 66(3):269-72. PubMed ID: 8985485
    [TBL] [Abstract][Full Text] [Related]  

  • 36. 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]  

  • 37. Microcephalic osteodysplastic primordial dwarfism with severe microdontia and skin anomalies: confirmation of a new syndrome.
    Kantaputra PN; Tanpaiboon P; Unachak K; Praphanphoj V
    Am J Med Genet A; 2004 Oct; 130A(2):181-90. PubMed ID: 15372530
    [TBL] [Abstract][Full Text] [Related]  

  • 38. A novel homozygous mutation of the PCNT gene in a Chinese patient with microcephalic osteodysplastic primordial dwarfism type II.
    Liu H; Tao N; Wang Y; Yang Y; He X; Zhang Y; Zhou Y; Liu X; Feng X; Sun M; Xu F; Su Y; Li L
    Mol Genet Genomic Med; 2021 Sep; 9(9):e1761. PubMed ID: 34331829
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Growth in individuals with Majewski osteodysplastic primordial dwarfism type II caused by pericentrin mutations.
    Bober MB; Niiler T; Duker AL; Murray JE; Ketterer T; Harley ME; Alvi S; Flora C; Rustad C; Bongers EM; Bicknell LS; Wise C; Jackson AP
    Am J Med Genet A; 2012 Nov; 158A(11):2719-25. PubMed ID: 22821869
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Multiple intracranial aneurysms and moyamoya disease associated with microcephalic osteodysplastic primordial dwarfism type II: surgical considerations.
    Waldron JS; Hetts SW; Armstrong-Wells J; Dowd CF; Fullerton HJ; Gupta N; Lawton MT
    J Neurosurg Pediatr; 2009 Nov; 4(5):439-44. PubMed ID: 19877776
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.