Search Results - "Burren, CP"

Simplifying causal gene identification in GWAS loci.

Authors: Schipper, Marijn Ulirsch, Jacob Posthuma, Danielle et al.

Source: PLoS Genetics. 3/17/2026, Vol. 22 Issue 3, p1-17. 17p.

Authors' reply to Nussey.

Authors: Arundel P Ahmed SF Allgrove J et al.

Source: BMJ (Clinical research ed.) [BMJ] 2013 Feb 19; Vol. 346, pp. f964. Date of Electronic Publication: 2013 Feb 19.

Publication Type: Letter; Comment

Journal Info: Publisher: British Medical Association Country of Publication: England NLM ID: 8900488 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-1833 (Electronic) Linking ISSN: 09598138 NLM ISO Abbreviation: BMJ Subsets: MEDLINE

Novel TRPV6 variant linked with transient neonatal hyperparathyroidism.

Authors: Kumar, Chanchal Vani, Sarada Deshmukh, Namita Neelkanth et al.

Source: Egyptian Journal of Medical Human Genetics. 6/27/2024, Vol. 25 Issue 1, p1-6. 6p.

Effects of Physical Activity Timing and Intensity on the Occurrence and Risk of Nocturnal Hypoglycemia in Adolescents With Type 1 Diabetes.

Authors: Potter, Rebecca L. Moore, Erin M. Lopez, Rebecca M.

Source: International Journal of Athletic Therapy & Training. Jan2023, Vol. 28 Issue 1, p7-12.

How adolescents with type 1 diabetes experience physical education in middle school: a qualitative study.

Authors: Joing I Marais G Huchez A et al.

Source: Diabetologia [Diabetologia] 2026 May; Vol. 69 (5), pp. 1176-1190. Date of Electronic Publication: 2026 Jan 07.

Publication Type: Journal Article

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 0006777 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1432-0428 (Electronic) Linking ISSN: 0012186X NLM ISO Abbreviation: Diabetologia Subsets: MEDLINE

A novel compound heterozygous mutation in the DYNC2H1 gene in a Chinese family with Jeune syndrome.

Authors: Xiong, Sujie Hu, Guangyao Zhou, Yao et al.

Source: Hereditas. 1/29/2025, Vol. 162 Issue 1, p1-8. 8p.

A novel homozygous intronic variant in CDT1 that alters splicing causes Meier–Gorlin syndrome, and a review of published mutations and growth hormone treatments.

Authors: Li, Qing Wu, Yichi Meng, Fucheng et al.

Source: Orphanet Journal of Rare Diseases. 12/18/2024, Vol. 19 Issue 1, p1-13. 13p.

Height prediction of individuals with osteogenesis imperfecta by machine learning.

Authors: Yang, Hongjiang Zhu, Wenbiao Li, Bo et al.

Source: Orphanet Journal of Rare Diseases. 11/9/2024, Vol. 19 Issue 1, p1-11. 11p.

The correlation between height and assay parameters in children with short stature.

Authors: Ban C Wang J Zeng Q et al.

Source: Medicine [Medicine (Baltimore)] 2026 May 22; Vol. 105 (21), pp. e48883.

Publication Type: Journal Article

Journal Info: Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN: 1536-5964 (Electronic) Linking ISSN: 00257974 NLM ISO Abbreviation: Medicine (Baltimore) Subsets: MEDLINE

Osteogenesis imperfecta: pathogenesis, classification, and treatment.

Authors: Hasegawa, Kosei¹ haseyan@md.okayama-u.ac.jp

Source: Clinical Pediatric Endocrinology. 2025, Vol. 34 Issue 3, p152-161. 10p.

Evidence of inequities experienced by the rare disease community with respect to receipt of a diagnosis and access to services: a scoping review of UK and international evidence.

Authors: Briscoe, Simon Martin Pintado, Clara Sutcliffe, Katy et al.

Source: Orphanet Journal of Rare Diseases. 6/12/2025, Vol. 20 Issue 1, p1-29. 29p.

Recurrent hypocalcemic tetany presenting to the emergency room: Answers.

Authors: Kakkar, Vanshika Pandit, Kaveri Yadav, Menka et al.

Source: Pediatric Nephrology. Mar2022, Vol. 37 Issue 3, p581-584. 4p. 1 Diagram.

Characteristics of intestinal microbiota in children with idiopathic short stature: a cross-sectional study.

Authors: Miao, Jing Lai, Panjian Wang, Kan et al.

Source: European Journal of Pediatrics. Oct2023, Vol. 182 Issue 10, p4537-4546. 10p. 1 Diagram, 1 Chart, 3 Graphs.

Serum Levels of CCN3 Protein in Iranian Women with Polycystic Ovary Syndrome.

Authors: Vatannejad, Akram Fouani, Fatima Zahraa Fadaei, Reza et al.

Source: Journal of Reproduction & Infertility. Apr-Jun2025, Vol. 26 Issue 2, p98-108. 11p.

The proteomic landscape of trophoblasts unravels calcium-dependent syncytialization processes and beta-chorionic gonadotropin (ß-hCG) production.

Authors: Gehl, Anna-Lena Klawitter, Daniel Wissenbach, Ulrich et al.

Source: Reproductive Biology & Endocrinology. 3/4/2025, p1-19. 19p.

以低血糖惊厥起病的A型胰岛素抵抗综合征 合并 ABCC8 基因突变1例.

Alternate Title: Hypoglycemic convulsions secondary to type A insulin resistance syndrome complicated with heterozygous mutation in ABCC8: a case report.

Authors: 周翔 史睿玲 杨娜 et al.

Source: Chinese Journal of Diabetes Mellitus. Feb2025, Vol. 17 Issue 2, p271-275. 5p.

Transient Neonatal Hyperparathyroidism Unfolding a Noteworthy Cause: A Series of Four Cases.

Authors: VINITHA, A. O. SANKAR, V. H. ASWATHY, RAHUL et al.

Source: Journal of Clinical & Diagnostic Research. Feb2025, Vol. 19 Issue 2, p1-5. 5p.

Placental hormones, IGF-1, and early-life growth: endocrine links between birth size and infant metabolic programming-a systematic review.

Authors: Soliman AT Alyafei F Alaaraj N et al.

Source: European journal of pediatrics [Eur J Pediatr] 2026 Apr 28; Vol. 185 (5). Date of Electronic Publication: 2026 Apr 28.

Publication Type: Journal Article; Systematic Review; Review

Journal Info: Publisher: Springer Verlag Country of Publication: Germany NLM ID: 7603873 Publication Model: Electronic Cited Medium: Internet ISSN: 1432-1076 (Electronic) Linking ISSN: 03406199 NLM ISO Abbreviation: Eur J Pediatr Subsets: MEDLINE

Sex differences in the clinical presentation, management and long-term outcomes of pituitary tumors in children and adolescents.

Authors: Maiter D Constantinescu SM

Source: Pituitary [Pituitary] 2026 Mar 07; Vol. 29 (2). Date of Electronic Publication: 2026 Mar 07.

Publication Type: Journal Article; Review

Journal Info: Publisher: Kluwer Academic Publishers Country of Publication: United States NLM ID: 9814578 Publication Model: Electronic Cited Medium: Internet ISSN: 1573-7403 (Electronic) Linking ISSN: 1386341X NLM ISO Abbreviation: Pituitary Subsets: MEDLINE

The LMSz method - an automatable scalable approach to constructing gene-specific growth charts in rare disorders.

Authors: Low KJ Foreman J Hobson RJ et al.

Source: European journal of human genetics : EJHG [Eur J Hum Genet] 2026 Mar; Vol. 34 (3), pp. 348-356. Date of Electronic Publication: 2025 Oct 13.

Publication Type: Journal Article

Journal Info: Publisher: Nature Publishing Group Country of Publication: England NLM ID: 9302235 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1476-5438 (Electronic) Linking ISSN: 10184813 NLM ISO Abbreviation: Eur J Hum Genet Subsets: MEDLINE