459 related articles for article (PubMed ID: 12571786)
21. 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]
22. Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".
Bozkaya OG
Genet Couns; 2013; 24(4):405-16. PubMed ID: 24551984
[TBL] [Abstract][Full Text] [Related]
23. 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]
24. 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]
25. Studies of microcephalic primordial dwarfism II: the osteodysplastic type II of primordial dwarfism.
Majewski F; Ranke M; Schinzel A
Am J Med Genet; 1982 May; 12(1):23-35. PubMed ID: 7201238
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. Autopsy case of microcephalic osteodysplastic primordial "dwarfism" type II.
Fukuzawa R; Sato S; Sullivan MJ; Nishimura G; Hasegawa T; Matsuo N
Am J Med Genet; 2002 Nov; 113(1):93-6. PubMed ID: 12400072
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. "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]
30. Microdontia with severe microcephaly and short stature in two brothers: osteodysplastic primordial dwarfism with dental findings.
Lin HJ; Sue GY; Berkowitz CD; Brasel JA; Lachman RS
Am J Med Genet; 1995 Aug; 58(2):136-42. PubMed ID: 8533804
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. MRI of the brain in the Cohen syndrome: a relatively large corpus callosum in patients with mental retardation and microcephaly.
Kivitie-Kallio S; Autti T; Salonen O; Norio R
Neuropediatrics; 1998 Dec; 29(6):298-301. PubMed ID: 10029348
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. Primordial osteodysplastic dwarfism type I in association with corneal clouding: evidence for autosomal recessive inheritance.
Van Maldergem L; Gillerot Y; Godhaird M; Nemec E; Koulischer L
Clin Genet; 1990 Nov; 38(5):359-61. PubMed ID: 2282715
[TBL] [Abstract][Full Text] [Related]
35. 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]
36. 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]
37. 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]
38. Studies of microcephalic primordial dwarfism I: approach to a delineation of the Seckel syndrome.
Majewski F; Goecke T
Am J Med Genet; 1982 May; 12(1):7-21. PubMed ID: 7046443
[No Abstract] [Full Text] [Related]
39. 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]
40. Cutaneous features associated with microcephalic osteodysplastic primordial dwarfism type II.
Webber N; O'Toole EA; Paige DG; Rosser E
Pediatr Dermatol; 2008; 25(3):401-2. PubMed ID: 18577061
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
