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Items: 1 to 20 of 119

1.

"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. doi: 10.1016/j.jaapos.2012.09.007. Epub 2013 Jan 18.

PMID:
23337351
2.

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. Epub 2012 Apr 17.

PMID:
22527565
3.

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. Epub 2016 Sep 9.

PMID:
27611897
4.

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. doi: 10.1002/ajmg.a.34299. Epub 2011 Oct 11.

PMID:
21990275
5.

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. doi: 10.1002/ajmg.a.36009. Epub 2013 Jun 21.

PMID:
23794361
6.

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. doi: 10.3171/2009.6.PEDS08137.

PMID:
19877776
7.

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. doi: 10.1007/s11011-015-9712-y. Epub 2015 Aug 1.

PMID:
26231886
8.

Microcephalic osteodysplastic primordial dwarfism type II.

al Gazali LI, Hamada M, Lytle W.

Clin Dysmorphol. 1995 Jul;4(3):234-8.

PMID:
7551160
9.

The smallest of the small.

Hall JG.

Gene. 2013 Oct 1;528(1):55-7. doi: 10.1016/j.gene.2013.03.081. Epub 2013 Apr 10.

PMID:
23583796
10.

Microcephalic osteodysplastic primordial dwarfism type II: report of three cases and review.

Majewski F, Goecke TO.

Am J Med Genet. 1998 Oct 30;80(1):25-31. Review.

PMID:
9800908
11.

Screening for cerebrovascular disease in microcephalic osteodysplastic primordial dwarfism type II (MOPD II): an evidence-based proposal.

Perry LD, Robertson F, Ganesan V.

Pediatr Neurol. 2013 Apr;48(4):294-8. doi: 10.1016/j.pediatrneurol.2012.12.010. Review.

PMID:
23498563
12.

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 13;8:191. doi: 10.1186/1752-1947-8-191.

13.

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. doi: 10.1097/BPO.0000000000000183.

PMID:
24705347
14.

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Meinecke P, Passarge E.

J Med Genet. 1991 Nov;28(11):795-800.

15.

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. doi: 10.1111/j.1399-0004.2011.01756.x. Epub 2011 Aug 28.

16.

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. doi: 10.1007/s00431-014-2368-5. Epub 2014 Jun 29.

17.

Neuronal migration disorders in microcephalic osteodysplastic primordial dwarfism type I/III.

Juric-Sekhar G, Kapur RP, Glass IA, Murray ML, Parnell SE, Hevner RF.

Acta Neuropathol. 2011 Apr;121(4):545-54. doi: 10.1007/s00401-010-0748-0. Epub 2010 Sep 21.

18.

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 30;80(1):16-24. Review.

PMID:
9800907
19.

Majewski osteodysplastic primordial dwarfism type II (MOPD II): expanding the vascular phenotype.

Bober MB, Khan N, Kaplan J, Lewis K, Feinstein JA, Scott CI Jr, Steinberg GK.

Am J Med Genet A. 2010 Apr;152A(4):960-5. doi: 10.1002/ajmg.a.33252.

PMID:
20358609
20.

Microcephalic Osteodysplastic Primordial Dwarfism, Type II: a Clinical Review.

Bober MB, Jackson AP.

Curr Osteoporos Rep. 2017 Apr;15(2):61-69. doi: 10.1007/s11914-017-0348-1. Review. Erratum in: Curr Osteoporos Rep. 2017 Jul 15;:.

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