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Results: 1 to 20 of 118

1.

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.

PMID:
21815888
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

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. doi: 10.1002/ajmg.a.35356. Epub 2012 May 11.

PMID:
22581640
[PubMed - indexed for MEDLINE]
3.

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
[PubMed - indexed for MEDLINE]
4.

Mutations in U4atac snRNA, a component of the minor spliceosome, in the developmental disorder MOPD I.

He H, Liyanarachchi S, Akagi K, Nagy R, Li J, Dietrich RC, Li W, Sebastian N, Wen B, Xin B, Singh J, Yan P, Alder H, Haan E, Wieczorek D, Albrecht B, Puffenberger E, Wang H, Westman JA, Padgett RA, Symer DE, de la Chapelle A.

Science. 2011 Apr 8;332(6026):238-40. doi: 10.1126/science.1200587.

PMID:
21474760
[PubMed - indexed for MEDLINE]
Free PMC Article
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
[PubMed - indexed for MEDLINE]
6.

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. doi: 10.1002/ajmg.a.35447. Epub 2012 Jul 20.

PMID:
22821869
[PubMed - indexed for MEDLINE]
7.

Association of TALS developmental disorder with defect in minor splicing component U4atac snRNA.

Edery P, Marcaillou C, Sahbatou M, Labalme A, Chastang J, Touraine R, Tubacher E, Senni F, Bober MB, Nampoothiri S, Jouk PS, Steichen E, Berland S, Toutain A, Wise CA, Sanlaville D, Rousseau F, Clerget-Darpoux F, Leutenegger AL.

Science. 2011 Apr 8;332(6026):240-3. doi: 10.1126/science.1202205.

PMID:
21474761
[PubMed - indexed for MEDLINE]
Free Article
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. doi: 10.1002/pbc.24783. Epub 2013 Sep 17.

PMID:
24106199
[PubMed - indexed for MEDLINE]
9.

Microlissencephaly in microcephalic osteodysplastic primordial dwarfism: a case report and review of the literature.

Klinge L, Schaper J, Wieczorek D, Voit T.

Neuropediatrics. 2002 Dec;33(6):309-13.

PMID:
12571786
[PubMed - indexed for MEDLINE]
10.

[Differential diagnostic considerations in microcephalic dwarfism].

Kraft CN, Diedrich O, Wagner U, Schmitt O.

Z Orthop Ihre Grenzgeb. 2000 Mar-Apr;138(2):126-30. German.

PMID:
10820877
[PubMed - indexed for MEDLINE]
11.

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
[PubMed - indexed for MEDLINE]
12.

"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
[PubMed - indexed for MEDLINE]
13.

Microcephalic osteodysplastic primordial dwarfism type I/III in sibs.

Meinecke P, Passarge E.

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

PMID:
1770539
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

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. doi: 10.1136/jmg.2009.067298. Epub 2009 Jul 29.

PMID:
19643772
[PubMed - indexed for MEDLINE]
15.

[Extreme microcephaly and growth retardation caused by mutations in a non-coding RNA component of the minor spliceosome].

Edery P, Alix E, Clerget-Darpoux F, Leutenegger AL.

Med Sci (Paris). 2012 Feb;28(2):130-3. doi: 10.1051/medsci/2012282004. Epub 2012 Feb 27. French. No abstract available.

PMID:
22377294
[PubMed - indexed for MEDLINE]
Free Article
16.

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.

PMID:
20857301
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

Microcephalic osteodysplastic dwarfism (type II-like) in siblings.

Verloes A, Lambrechts L, Senterre J, Lambotte C.

Clin Genet. 1987 Aug;32(2):88-94.

PMID:
3652495
[PubMed - indexed for MEDLINE]
18.

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
[PubMed - indexed for MEDLINE]
19.

Microcephalic osteodysplastic primordial dwarfism, with the fascinating history of "Mademoiselle Crachami".

Bozkaya OG.

Genet Couns. 2013;24(4):405-16.

PMID:
24551984
[PubMed - indexed for MEDLINE]
20.

Identification of the first ATRIP-deficient patient and novel mutations in ATR define a clinical spectrum for ATR-ATRIP Seckel Syndrome.

Ogi T, Walker S, Stiff T, Hobson E, Limsirichaikul S, Carpenter G, Prescott K, Suri M, Byrd PJ, Matsuse M, Mitsutake N, Nakazawa Y, Vasudevan P, Barrow M, Stewart GS, Taylor AM, O'Driscoll M, Jeggo PA.

PLoS Genet. 2012;8(11):e1002945. doi: 10.1371/journal.pgen.1002945. Epub 2012 Nov 8.

PMID:
23144622
[PubMed - indexed for MEDLINE]
Free PMC Article

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