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4. 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]
5. 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]
6. Expanding the phenotypic and mutational spectrum in microcephalic osteodysplastic primordial dwarfism type I. Abdel-Salam GM; Abdel-Hamid MS; Issa M; Magdy A; El-Kotoury A; Amr K Am J Med Genet A; 2012 Jun; 158A(6):1455-61. PubMed ID: 22581640 [TBL] [Abstract][Full Text] [Related]
7. Novel frameshift variant in the PCNT gene associated with Microcephalic Osteodysplastic Primordial Dwarfism (MOPD) Type II and small kidneys. Hettiarachchi D; Subasinghe SMV; Anandagoda GG; Panchal H; Lai PS; Dissanayake VHW BMC Med Genomics; 2022 Apr; 15(1):82. PubMed ID: 35422036 [TBL] [Abstract][Full Text] [Related]
8. Microcephalic osteodysplastic primordial dwarfism, type II. Report of a case with characteristic skeletal features. Herman TE; Mendelsohn NJ; Dowton SB; McAlister WH Pediatr Radiol; 1991; 21(8):602-4. PubMed ID: 1815189 [TBL] [Abstract][Full Text] [Related]
9. Microcephalic osteodysplastic primordial dwarfism type I/III in sibs. Meinecke P; Passarge E J Med Genet; 1991 Nov; 28(11):795-800. PubMed ID: 1770539 [TBL] [Abstract][Full Text] [Related]
10. Striking hematological abnormalities in patients with microcephalic osteodysplastic primordial dwarfism type II (MOPD II): a potential role of pericentrin in hematopoiesis. Unal S; Alanay Y; Cetin M; Boduroglu K; Utine E; Cormier-Daire V; Huber C; Ozsurekci Y; Kilic E; Simsek Kiper OP; Gumruk F Pediatr Blood Cancer; 2014 Feb; 61(2):302-5. PubMed ID: 24106199 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Osteodysplastic primordial dwarfism: report of a further patient with manifestations similar to those seen in patients with types I and III. Winter RM; Wigglesworth J; Harding BN Am J Med Genet; 1985 Jul; 21(3):569-74. PubMed ID: 4025388 [TBL] [Abstract][Full Text] [Related]
13. 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]
14. Microcephalic osteodysplastic primordial dwarfism type 1. Ferrell S; Johnson A; Pearson W BMJ Case Rep; 2016 Jun; 2016():. PubMed ID: 27312855 [TBL] [Abstract][Full Text] [Related]
15. 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]
16. Osteodysplastic primordial dwarfism: report of a further case with manifestations similar to those of types I and III. Haan EA; Furness ME; Knowles S; Morris LL; Scott G; Svigos JM; Vigneswaren R Am J Med Genet; 1989 Jun; 33(2):224-7. PubMed ID: 2764032 [TBL] [Abstract][Full Text] [Related]
17. Studies of microcephalic primordial dwarfism III: an intrauterine dwarf with platyspondyly and anomalies of pelvis and clavicles--osteodysplastic primordial dwarfism type III. Majewski F; Stoeckenius M; Kemperdick H Am J Med Genet; 1982 May; 12(1):37-42. PubMed ID: 7201239 [No Abstract] [Full Text] [Related]
18. Osteodysplastic primordial dwarfism: a case with features of type II. Masuno M; Imaizumi K; Nishimura G; Kurosawa K; Makita Y; Shimazaki Y; Kuroki Y Clin Dysmorphol; 1995 Jan; 4(1):57-62. PubMed ID: 7735506 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. Medical management of moyamoya disease and recurrent stroke in an infant with Majewski osteodysplastic primordial dwarfism type II (MOPD II). Kılıç E; Utine E; Unal S; Haliloğlu G; Oğuz KK; Cetin M; Boduroğlu K; Alanay Y Eur J Pediatr; 2012 Oct; 171(10):1567-71. PubMed ID: 22527565 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]