186 related articles for article (PubMed ID: 27241249)
1. Nicolas Ferry (1741-1764), the court dwarf of King Stanislas, probably suffered from microcephalic osteodysplastic primordial dwarfism type II (MOPD II).
Bauduer F
Med Hypotheses; 2016 Jul; 92():26-7. PubMed ID: 27241249
[No Abstract] [Full Text] [Related]
2. 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]
3. The smallest of the small.
Hall JG
Gene; 2013 Oct; 528(1):55-7. PubMed ID: 23583796
[TBL] [Abstract][Full Text] [Related]
4. Further delineation of the clinical spectrum in RNU4ATAC related microcephalic osteodysplastic primordial dwarfism type I.
Abdel-Salam GM; Abdel-Hamid MS; Hassan NA; Issa MY; Effat L; Ismail S; Aglan MS; Zaki MS
Am J Med Genet A; 2013 Aug; 161A(8):1875-81. PubMed ID: 23794361
[TBL] [Abstract][Full Text] [Related]
5. 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]
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. 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]
8. 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]
9. 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]
10. 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]
11. 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]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Multiple vascular malformations in a patient with microcephalic osteodysplastic primordial dwarfism type ii.
Ruiz-Botero F; Pachajoa H
Neurologia; 2017 Mar; 32(2):127-129. PubMed ID: 26059803
[No Abstract] [Full Text] [Related]
19. Microcephalic osteodysplastic primordial dwarfism type II and pachygyria: Morphometric analysis in a 2-year-old girl.
Rossi-Espagnet MC; Dentici ML; Pasquini L; Carducci C; Lucignani M; Longo D; Agolini E; Novelli A; Gonfiantini MV; Digilio MC; Napolitano A; Bartuli A
Am J Med Genet A; 2020 Oct; 182(10):2372-2376. PubMed ID: 32744776
[TBL] [Abstract][Full Text] [Related]
20. Long-term survival in microcephalic osteodysplastic primordial dwarfism type I: Evaluation of an 18-year-old male with g.55G>A homozygous mutation in RNU4ATAC.
Abdel-Salam GM; Emam BA; Khalil YM; Abdel-Hamid MS
Am J Med Genet A; 2016 Jan; 170A(1):277-82. PubMed ID: 26419500
[No Abstract] [Full Text] [Related]
[Next] [New Search]