PMC Links for Nucleotide (Select 4406379) - PMC

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Items: 12

Select item 65832711.

Re‐alignment‐procedures for Skeletal Dysplasia in Three Patients with Genetically Diverse Syndromes

Ali Al Kaissi, Rudolf Ganger, Katharina M. Roetzer, Thomas Schwarzbraun, Klaus Klaushofer, Franz Grill

Orthop Surg. 2013 Feb; 5(1): 33–39. Published online 2013 Feb 18. doi: 10.1111/os.12023

PMCID:: PMC6583271

Abstract Article PDF–1.1M

Select item 65529562.

Practical management in Wolcott‐Rallison syndrome with associated hypothyroidism, neutropenia, and recurrent liver failure: A case report

Markus Lundgren, Elisa De Franco, Henrik Arnell, Björn Fischler

Clin Case Rep. 2019 Jun; 7(6): 1133–1138. Published online 2019 May 1. doi: 10.1002/ccr3.2168

PMCID:: PMC6552956

Abstract Article PDF–280K

Select item 56103473.

Multicystic dysplastic kidney: a new association of Wolcott–Rallison syndrome

Asma Deeb, Faisal Al-Zidgali, Bibian N Ofoegbu

Endocrinol Diabetes Metab Case Rep. 2017; 2017: 17-0090. Published online 2017 Sep 20. doi: 10.1530/EDM-17-0090

PMCID:: PMC5610347

Abstract Article PDF–1.1M

Select item 51980134.

Wolcott-Rallison Syndrome with Novel EIF2AK3 Gene Mutation

Fatih Gürbüz, Bilgin Yüksel, Ali Kemal Topaloğlu

J Clin Res Pediatr Endocrinol. 2016 Dec; 8(4): 496–497. Published online 2016 Dec 1. doi: 10.4274/jcrpe.3065

PMCID:: PMC5198013

Article PDF–260K

Select item 44640425.

Liver Disease and Other Comorbidities in Wolcott-Rallison Syndrome: Different Phenotype and Variable Associations in a Large Cohort

Abdelhadi M. Habeb, Asma Deeb, Matthew Johnson, Mohammed Abdullah, Majidah Abdulrasoul, Hussain Al-Awneh, Mohammed S.F. Al-Maghamsi, Fathiya Al-Murshedi, Ramlah Al-Saif, Siham Al-Sinani, Dina Ramadan, Hala Tfayli, Sarah E. Flanagan, Sian Ellard

Horm Res Paediatr. 2015 Apr; 83(3): 190–197. Published online 2015 Feb 5. doi: 10.1159/000369804

PMCID:: PMC4464042

Abstract Article PDF–140K

Select item 44117076.

Clinical characteristics and molecular genetic analysis of 22 patients with neonatal diabetes from the South-Eastern region of Turkey: predominance of non-K_ATP channel mutations

Huseyin Demirbilek, Ved Bhushan Arya, Mehmet Nuri Ozbek, Jayne A L Houghton, Riza Taner Baran, Melek Akar, Selahattin Tekes, Heybet Tuzun, Deborah J Mackay, Sarah E Flanagan, Andrew T Hattersley, Sian Ellard, Khalid Hussain

Eur J Endocrinol. 2015 Jun; 172(6): 697–705. Prepublished online 2015 Mar 9. doi: 10.1530/EJE-14-0852

PMCID:: PMC4411707

Abstract Article PDF–168K

Select item 37597787.

Recurrent Hepatitis in Two Iranian Children: A Novel (Q166R) Mutation in EIF2AK3 Leading to Wolcott-Rallison Syndrome

Babak Behnam, Marjan Shakiba, Ali Ahani, Maryam Razzaghy Azar

Hepat Mon. 2013 Jun; 13(6): e10124. Published online 2013 Jun 9. doi: 10.5812/hepatmon.10124

PMCID:: PMC3759778

Abstract Article PDF–825K

Select item 37374338.

Improved genetic testing for monogenic diabetes using targeted next-generation sequencing

S. Ellard, H. Lango Allen, E. De Franco, S. E. Flanagan, G. Hysenaj, K. Colclough, J. A. L. Houghton, M. Shepherd, A. T. Hattersley, M. N. Weedon, R. Caswell

Diabetologia. 2013; 56(9): 1958–1963. Published online 2013 Jun 15. doi: 10.1007/s00125-013-2962-5

PMCID:: PMC3737433

Abstract Article PDF–169K

Select item 33867689.

Wolcott-Rallison Syndrome Due to a Novel Mutation (R491X) in EIF2AK3 Gene

Ercan Mıhçı, Doğa Türkkahraman, Sian Ellard, Sema Akçurin, İffet Bircan

J Clin Res Pediatr Endocrinol. 2012 Jun; 4(2): 101–103. Published online 2012 Jun 9. doi: 10.4274/Jcrpe.619

PMCID:: PMC3386768

Abstract Article PDF–231K

Select item 277565510.

Wolcott-Rallison Syndrome Is the Most Common Genetic Cause of Permanent Neonatal Diabetes in Consanguineous Families

Oscar Rubio-Cabezas, Ann-Marie Patch, Jayne A. L. Minton, Sarah E. Flanagan, Emma L. Edghill, Khalid Hussain, Amina Balafrej, Asma Deeb, Charles R. Buchanan, Ian G. Jefferson, Angham Mutair, the Neonatal Diabetes International Collaborative Group, Andrew T. Hattersley, Sian Ellard

J Clin Endocrinol Metab. 2009 Nov; 94(11): 4162–4170. Published online 2009 Oct 16. doi: 10.1210/jc.2009-1137