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Items: 8

1.

The emerging roles of hnRNPK.

Wang Z, Qiu H, He J, Liu L, Xue W, Fox A, Tickner J, Xu J.

J Cell Physiol. 2019 Sep 19. doi: 10.1002/jcp.29186. [Epub ahead of print] Review.

PMID:
31538344
2.

Au-Kline Syndrome.

Au PYB, Innes AM, Kline AD.

In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2019.
2019 Apr 18.

3.

Okamoto syndrome has features overlapping with Au-Kline syndrome and is caused by HNRNPK mutation.

Okamoto N.

Am J Med Genet A. 2019 May;179(5):822-826. doi: 10.1002/ajmg.a.61079. Epub 2019 Feb 21.

PMID:
30793470
4.

Phenotypic spectrum of Au-Kline syndrome: a report of six new cases and review of the literature.

Au PYB, Goedhart C, Ferguson M, Breckpot J, Devriendt K, Wierenga K, Fanning E, Grange DK, Graham GE, Galarreta C, Jones MC, Kini U, Stewart H, Parboosingh JS, Kline AD, Innes AM; Care for Rare Canada Consortium.

Eur J Hum Genet. 2018 Sep;26(9):1272-1281. doi: 10.1038/s41431-018-0187-2. Epub 2018 Jun 14. Review.

5.

Clinical spectrum of Kabuki-like syndrome caused by HNRNPK haploinsufficiency.

Dentici ML, Barresi S, Niceta M, Pantaleoni F, Pizzi S, Dallapiccola B, Tartaglia M, Digilio MC.

Clin Genet. 2018 Feb;93(2):401-407. doi: 10.1111/cge.13029. Epub 2017 Apr 25.

PMID:
28374925
6.

A new finding of a tethered cord in a patient with Okamoto syndrome.

Conteh FS, Tyagi R, Brooks SS.

Clin Dysmorphol. 2017 Apr;26(2):110-113. doi: 10.1097/MCD.0000000000000147. Review. No abstract available.

PMID:
27552167
7.

Natural history of a child with Okamoto syndrome.

Wallerstein R, Rhoads F.

Clin Dysmorphol. 2013 Jul;22(3):127-8. doi: 10.1097/MCD.0b013e32836127d0. No abstract available.

PMID:
23591295
8.

A newborn with likely Okamoto syndrome.

Taylor J, Aftimos S.

Clin Dysmorphol. 2010 Apr;19(2):103-6. doi: 10.1097/MCD.0b013e328337bb8d. No abstract available.

PMID:
20179579

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