PMC Articles for MedGen (Select 767638) - PMC - NCBI

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Items: 11

Select item 84406101.

Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3—a subgroup of K⁺ channelopathies

Karen W. Gripp, Sarah F. Smithson, Ingrid J. Scurr, Julia Baptista, Anirban Majumdar, Germaine Pierre, Maggie Williams, Lindsay B. Henderson, Ingrid M. Wentzensen, Heather McLaughlin, Lisette Leeuwen, Marleen E. H. Simon, Ellen van Binsbergen, Mary Beth P. Dinulos, Julie D. Kaplan, Anne McRae, Andrea Superti-Furga, Jean-Marc Good, Kerstin Kutsche

Eur J Hum Genet. 2021 Sep; 29(9): 1384–1395. Published online 2021 Feb 16. doi: 10.1038/s41431-021-00818-9

PMCID:: PMC8440610

Article PDF–1.8M

Select item 83636552.

Autopsy Case of Pfeiffer Syndrome Type 2, a Phenotype of Fibroblast Growth Factor Receptor-Associated Craniosynostosis Syndromes, with Tracheal Cartilage Sleeve and Abnormal Hyperplasia of Bronchial Cartilages

Shin-ya Katsuragi, Etsuko Hirose, Yoshifumi Arai, Yoshiro Otsuki, Shigeru Ohki, Hiroshi Kobayashi

Am J Case Rep. 2021; 22: e932450-1–e932450-7. Published online 2021 Aug 9. doi: 10.12659/AJCR.932450

PMCID:: PMC8363655

Article PDF–2.5M

Select item 76780483.

A 300-kb microduplication of 7q36.3 in a patient with triphalangeal thumb-polysyndactyly syndrome combined with congenital heart disease and optic disc coloboma: a case report

Anna Zlotina, Olesia Melnik, Yulia Fomicheva, Rostislav Skitchenko, Alexey Sergushichev, Elena Shagimardanova, Oleg Gusev, Guzel Gazizova, Tatiana Loevets, Tatiana Vershinina, Ivan Kozyrev, Mikhail Gordeev, Elena Vasichkina, Tatiana Pervunina, Anna Kostareva

BMC Med Genomics. 2020; 13: 175. Published online 2020 Nov 20. doi: 10.1186/s12920-020-00821-x

PMCID:: PMC7678048

Article PDF–1.3M

Select item 56858804.

A Novel Missense Variant in the GLI3 Zinc Finger Domain in a Family with Digital Anomalies

J. Aaron Crapster, Louanne Hudgins, James K. Chen, Natalia Gomez-Ospina

Am J Med Genet A. Author manuscript; available in PMC 2018 Dec 1.

Published in final edited form as: Am J Med Genet A. 2017 Dec; 173(12): 3221–3225. Published online 2017 Sep 8. doi: 10.1002/ajmg.a.38415

PMCID:: PMC5685880

Article PDF–410K

Select item 53648265.

Microduplication of 7q36.3 encompassing the SHH long-range regulator (ZRS) in a patient with triphalangeal thumb-polysyndactyly syndrome and congenital heart disease

Zhenghua Liu, Ni Yin, Lianghui Gong, Zhiping Tan, Bangliang Yin, Yifeng Yang, Cheng Luo

Mol Med Rep. 2017 Feb; 15(2): 793–797. Published online 2016 Dec 29. doi: 10.3892/mmr.2016.6092

PMCID:: PMC5364826

Article PDF–1.2M

Select item 35762946.

Bilateral radial agenesis with absent thumbs, complex heart defect, short stature, and facial dysmorphism in a patient with pure distal microduplication of 5q35.2-5q35.3

Aleksander Jamsheer, Anna Sowińska, Dorota Simon, Małgorzata Jamsheer-Bratkowska, Tomasz Trzeciak, Anna Latos-Bieleńska

BMC Med Genet. 2013; 14: 13. Published online 2013 Jan 24. doi: 10.1186/1471-2350-14-13

PMCID:: PMC3576294

Article PDF–966K

Select item 30178637.

Digital gene expression tag profiling of bat digits provides robust candidates contributing to wing formation

Zhe Wang, Dong Dong, Binghua Ru, Rebecca L Young, Naijian Han, Tingting Guo, Shuyi Zhang

BMC Genomics. 2010; 11: 619. Published online 2010 Nov 6. doi: 10.1186/1471-2164-11-619

PMCID:: PMC3017863

Article PDF–4.5M

Select item 25793648.

A second wave of Sonic hedgehog expression during the development of the bat limb

Dorit Hockman, Chris J. Cretekos, Mandy K. Mason, Richard R. Behringer, David S. Jacobs, Nicola Illing

Proc Natl Acad Sci U S A. 2008 Nov 4; 105(44): 16982–16987. Published online 2008 Oct 28. doi: 10.1073/pnas.0805308105

PMCID:: PMC2579364

Article PDF–762K

Select item 16858039.

Duplication 9q34 syndrome.

P W Allderdice, B Eales, H Onyett, W Sprague, K Henderson, P A Lefeuvre, G Pal

Am J Hum Genet. 1983 Sep; 35(5): 1005–1019.

PMCID:: PMC1685803

Article PDF–2.5M

Select item 105046010.

The acrocallosal syndrome in first cousins: widening of the spectrum of clinical features and further support for autosomal recessive inheritance.

A Schinzel

J Med Genet. 1988 May; 25(5): 332–336. doi: 10.1136/jmg.25.5.332

PMCID:: PMC1050460

Article PDF–1.2M

Select item 104889411.

A family study of craniosynostosis, with probable recognition of a distinct syndrome.

C O Carter, K Till, V Fraser, R Coffey

J Med Genet. 1982 Aug; 19(4): 280–285. doi: 10.1136/jmg.19.4.280

PMCID:: PMC1048894

Article PDF–1.2M

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