199 related articles for article (PubMed ID: 34016138)
1. Microcephalic osteodysplastic primordial dwarfism type II is associated with global vascular disease.
Duker AL; Kinderman D; Jordan C; Niiler T; Baker-Smith CM; Thompson L; Parry DA; Carroll RS; Bober MB
Orphanet J Rare Dis; 2021 May; 16(1):231. PubMed ID: 34016138
[TBL] [Abstract][Full Text] [Related]
2. Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.
Bober MB; Jackson AP
Curr Osteoporos Rep; 2017 Apr; 15(2):61-69. PubMed ID: 28409412
[TBL] [Abstract][Full Text] [Related]
3. Novel PCNT variants in MOPDII with attenuated growth restriction and pachygyria.
Waich S; Janecke AR; Parson W; Greber-Platzer S; Müller T; Huber LA; Valovka T; Vodopiutz J
Clin Genet; 2020 Sep; 98(3):282-287. PubMed ID: 32557621
[TBL] [Abstract][Full Text] [Related]
4. A 10-Year-Old Boy with Short Stature and Microcephaly, Diagnosed with Moyamoya Syndrome and Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPD II).
Eslava A; Garcia-Puig M; Corripio R
Am J Case Rep; 2021 Dec; 22():e933919. PubMed ID: 34923567
[TBL] [Abstract][Full Text] [Related]
5. Hip pathology in Majewski osteodysplastic primordial dwarfism type II.
Karatas AF; Bober MB; Rogers K; Duker AL; Ditro CP; Mackenzie WG
J Pediatr Orthop; 2014 Sep; 34(6):585-90. PubMed ID: 24705347
[TBL] [Abstract][Full Text] [Related]
6. 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]
7. 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]
8. Majewski dwarfism type II: an atypical neuroradiological presentation with a novel variant in the
Alrajhi H; Alallah J; Shawli A; Alghamdi K; Hakami F
BMJ Case Rep; 2019 May; 12(5):. PubMed ID: 31151966
[TBL] [Abstract][Full Text] [Related]
9. Majewski/Microcephalic Osteodysplastic Primordial Dwarfism Type II (MOPDII) with generalised microdontia in the 4th millennium BCE Eastern Mediterranean.
Lorentz KO; Branca NM; Lemmers SAM
Int J Paleopathol; 2021 Jun; 33():158-169. PubMed ID: 33957552
[TBL] [Abstract][Full Text] [Related]
10. Whole-Exome and Transcriptome Sequencing Expands the Genotype of Majewski Osteodysplastic Primordial Dwarfism Type II.
Marzano F; Chiara M; Consiglio A; D'Amato G; Gentile M; Mirabelli V; Piane M; Savio C; Fabiani M; D'Elia D; Sbisà E; Scarano G; Lonardo F; Tullo A; Pesole G; Faienza MF
Int J Mol Sci; 2023 Jul; 24(15):. PubMed ID: 37569667
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families.
Willems M; Geneviève D; Borck G; Baumann C; Baujat G; Bieth E; Edery P; Farra C; Gerard M; Héron D; Leheup B; Le Merrer M; Lyonnet S; Martin-Coignard D; Mathieu M; Thauvin-Robinet C; Verloes A; Colleaux L; Munnich A; Cormier-Daire V
J Med Genet; 2010 Dec; 47(12):797-802. PubMed ID: 19643772
[TBL] [Abstract][Full Text] [Related]
14. "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]
15. Association of Meier-Gorlin and microcephalic osteodysplastic primordial dwarfism type II clinical features in an individual with CDK5RAP2 primary microcephaly.
Sabbagh Q; Tharreau M; Cenni C; Sanchez E; Ruiz-Pallares N; Alkar F; Amouroux C; David S; Prodhomme O; Leboucq N; Meunier I; Bessis D; Theron A; Barat-Houari M; Willems M
Eur J Med Genet; 2023 May; 66(5):104733. PubMed ID: 36842471
[TBL] [Abstract][Full Text] [Related]
16. 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]
17. 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]
18. Case Report: short stature, kidney anomalies, and cerebral aneurysms in a novel homozygous mutation in the
Petraroli M; Percesepe A; Piane M; Ormitti F; Castellone E; Gnocchi M; Messina G; Bernardi L; Patianna VD; Esposito SMR; Street ME
Front Endocrinol (Lausanne); 2023; 14():1018441. PubMed ID: 37234811
[TBL] [Abstract][Full Text] [Related]
19. 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]
20.
; ; . PubMed ID:
[No Abstract] [Full Text] [Related]
[Next] [New Search]