PMC Links for Books (Select 1475228) - PMC

Select item 93144841.

Variation among DNA banking consent forms: points for clinicians to bank on

Samuel J. Huang, Laura M. Amendola, Darci L. Sternen

J Community Genet. 2022 Aug; 13(4): 389–397. Published online 2022 Jul 14. doi: 10.1007/s12687-022-00601-3

PMCID:: PMC9314484

Select item 76118492.

Prevalence of Permanent Neonatal Diabetes in Slovakia and Successful Replacement of Insulin with Sulfonylurea Therapy in KCNJ11 and ABCC8 Mutation Carriers

Juraj Stanik, Daniela Gasperikova, Magdalena Paskova, Lubomir Barak, Jana Javorkova, Emilia Jancova, Miriam Ciljakova, Peter Hlava, Jozef Michalek, Sarah E. Flanagan, Ewan Pearson, Andrew T. Hattersley, Sian Ellard, Iwar Klimes

J Clin Endocrinol Metab. Author manuscript; available in PMC 2021 Oct 19.

Published in final edited form as: J Clin Endocrinol Metab. 2007 Apr 1; 92(4): 1276–82. Published online 2007 Jan 9. doi: 10.1210/jc.2006-2490

PMCID:: PMC7611849

Abstract Article PDF–933K

Select item 76118113.

Mutations in K_ATP Channel Genes cause Transient Neonatal Diabetes and Permanent Diabetes in Childhood or Adulthood

Sarah E. Flanagan, Ann-Marie Patch, Deborah J.G. Mackay, Emma L. Edghill, Anna L. Gloyn, David Robinson, Julian P.H. Shield, Karen Temple, Sian Ellard, Professor Andrew T. Hattersley

Diabetes. Author manuscript; available in PMC 2021 Oct 12.

Published in final edited form as: Diabetes. 2007 Jul 1; 56(7): 1930–7. Published online 2007 Apr 19. doi: 10.2337/db07-0043

PMCID:: PMC7611811

Abstract Article PDF–746K

Select item 45447534.

Standards and Guidelines for the Interpretation of Sequence Variants: A Joint Consensus Recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology

Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W. Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector, Karl Voelkerding, Heidi L. Rehm

Genet Med. Author manuscript; available in PMC 2015 Nov 1.

Published in final edited form as: Genet Med. 2015 May; 17(5): 405–424. Published online 2015 Mar 5. doi: 10.1038/gim.2015.30

PMCID:: PMC4544753

Abstract Article PDF–960K

Select item 35793575.

Transient Neonatal Diabetes, ZFP57, and Hypomethylation of Multiple Imprinted Loci: A detailed follow-up

Susanne E. Boonen, Deborah J.G. Mackay, Johanne M.D. Hahnemann, Louise Docherty, Karen Grønskov, Anna Lehmann, Lise G. Larsen, Andreas P. Haemers, Yves Kockaerts, Lutgarde Dooms, Dũng Chí Vũ, C.T. Bich Ngoc, Phuong Bich Nguyen, Olga Kordonouri, Frida Sundberg, Pinar Dayanikli, Vijith Puthi, Carlo Acerini, Ahmed F. Massoud, Zeynep Tümer, I. Karen Temple

Diabetes Care. 2013 Mar; 36(3): 505–512. Published online 2013 Feb 13. doi: 10.2337/dc12-0700

PMCID:: PMC3579357

Abstract Article PDF–888K

Select item 33850446.

Treatment of Transient Neonatal Diabetes Mellitus with Subcutaneous Insulin Glargine in an Extremely Low Birth Weight Neonate

Joseph V. Barone, Emma M. Tillman, Robert J Ferry, Jr

J Pediatr Pharmacol Ther. 2011 Oct-Dec; 16(4): 291–297. doi: 10.5863/1551-6776-16.4.291

PMCID:: PMC3385044

Abstract Article PDF–369K

Select item 25979207.

Genetic and epigenetic defects at the 6q24 imprinted locus in a cohort of 13 patients with transient neonatal diabetes: new hypothesis raised by the finding of a unique case with hemizygotic deletion in the critical region

C Diatloff‐Zito*, A Nicole, G Marcelin, H Labit, E Marquis, C Bellanné‐Chantelot, J J Robert

J Med Genet. 2007 Jan; 44(1): 31–37. Published online 2006 Sep 13. doi: 10.1136/jmg.2006.044404

PMCID:: PMC2597920

Abstract Article PDF–399K

Select item 18478058.

Neonatal diabetes mellitus: a disease linked to multiple mechanisms

Michel Polak, Hélène Cavé

Orphanet J Rare Dis. 2007; 2: 12. Published online 2007 Mar 9. doi: 10.1186/1750-1172-2-12

PMCID:: PMC1847805

Abstract Article PDF–1.1M

Select item 17217229.

An assessment of pancreatic endocrine function and insulin sensitivity in patients with transient neonatal diabetes in remission

J Shield, I Temple, M Sabin, D Mackay, D Robinson, P Betts, D Carson, H Cave, D Chevenne, M Polak

Arch Dis Child Fetal Neonatal Ed. 2004 Jul; 89(4): F341–F343. doi: 10.1136/adc.2003.030502

PMCID:: PMC1721722

Summary PDF–62K

Select item 109776510.

ZAC, LIT1 (KCNQ1OT1) and p57^KIP2 (CDKN1C) are in an imprinted gene network that may play a role in Beckwith–Wiedemann syndrome

Takahiro Arima, Tetsuya Kamikihara, Toshirou Hayashida, Kiyoko Kato, Toshiaki Inoue, Yasuaki Shirayoshi, Mitsuo Oshimura, Hidenobu Soejima, Tunehiro Mukai, Norio Wake

Nucleic Acids Res. 2005; 33(8): 2650–2660. Published online 2005 May 11. doi: 10.1093/nar/gki555

PMCID:: PMC1097765

Abstract Article PDF–838K

Select item 104980911.

Hereditary pancreatic hypoplasia, diabetes mellitus, and congenital heart disease: a new syndrome?

T Yorifuji, M Matsumura, T Okuno, K Shimizu, T Sonomura, J Muroi, C Kuno, Y Takahashi, T Okuno

J Med Genet. 1994 Apr; 31(4): 331–333. doi: 10.1136/jmg.31.4.331

PMCID:: PMC1049809

Summary Page Browse PDF–883K

Select item 48497212.

Impaired glucose homeostasis in transgenic mice expressing the human transient neonatal diabetes mellitus locus, TNDM

Dan Ma, Julian P.H. Shield, Wendy Dean, Isabelle Leclerc, Claude Knauf, Rémy Burcelin, Guy A. Rutter, Gavin Kelsey

J Clin Invest. 2004 Aug 1; 114(3): 339–348. doi: 10.1172/JCI19876

PMCID:: PMC484972

Abstract Article PDF–1.5M

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