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Select item 117056591.

Alström syndrome: the journey to diagnosis

Akshat Sinha, Kerry Leeson-Beevers, Catherine Lewis, Elizabeth Loughery, Tarekegn Geberhiwot

Orphanet J Rare Dis. 2025; 20: 5. Published online 2025 Jan 6. doi: 10.1186/s13023-024-03509-y

PMCID:: PMC11705659

Abstract Article PDF–1.7M

Select item 116763612.

Childhood-Onset ANCA-Associated Vasculitis: From Genetic Studies to Advances in Pathogenesis, Classification and Novel Therapeutic Approaches

Liching Yeo, Asma Naheed, Chantelle Richards, Coziana Ciurtin

Int J Mol Sci. 2024 Dec; 25(24): 13704. Published online 2024 Dec 22. doi: 10.3390/ijms252413704

PMCID:: PMC11676361

Abstract Article PDF–809K

Select item 116752053.

Rescue of Aberrant Splicing Caused by a Novel Complex Deep-intronic ABCA4 Allele

Jordi Maggi, Silke Feil, Jiradet Gloggnitzer, Kevin Maggi, James V. M. Hanson, Samuel Koller, Christina Gerth-Kahlert, Wolfgang Berger

Genes (Basel) 2024 Dec; 15(12): 1503. Published online 2024 Nov 23. doi: 10.3390/genes15121503

PMCID:: PMC11675205

Abstract Article PDF–2.6M

Select item 116708484.

Evaluation of risk factors for childhood myopia progression: A systematic review of the literature

Chun-Wen Chen, Jing-Yan Yao

Indian J Ophthalmol. 2024 Nov; 72(Suppl 5): S721–S727. Published online 2024 Aug 14. doi: 10.4103/IJO.IJO_1909_23

PMCID:: PMC11670848

Abstract Article PDF–1.3M

Select item 116499595.

Mineralocorticoid receptor activates postnatal adiposity in zebrafish lacking proopiomelanocortin

Jithine J. Rajeswari, Erin Faught, Helio Santos, Mathilakath M. Vijayan

J Cell Physiol. 2024 Dec; 239(12): e31428. Published online 2024 Sep 5. doi: 10.1002/jcp.31428

PMCID:: PMC11649959

Abstract Article PDF–2.4M

Select item 116461136.

Generation of a zebrafish neurofibromatosis model via inducible knockout of nf2a/b

Ayyappa Raja Desingu Rajan, Yuanyun Huang, Jan Stundl, Katelyn Chu, Anushka Irodi, Zihan Yang, Brian E. Applegate, Marianne E. Bronner

Dis Model Mech. 2024 Dec 1; 17(12): dmm050862. Published online 2024 Dec 4. doi: 10.1242/dmm.050862

PMCID:: PMC11646113

Abstract Article

Select item 116349767.

Oral microbiota in preschoolers with rampant caries: a matched case–control study

Yao Wu, Guiding Li, Chang-hai Lyu, Ni Zhou, Hai Ming Wong

Appl Microbiol Biotechnol. 2024; 108(1): 533. Published online 2024 Dec 11. doi: 10.1007/s00253-024-13362-5

PMCID:: PMC11634976

Abstract Article PDF–2.9M

Select item 116337058.

Response to amoxicillin and perampanel in infantile Alexander disease

Susana Boronat, Eulalia Turon‐Viñas, Noel Mac Manus, Asuncion Diaz‐Gomez, Mónica Vicente, Victoria Ros‐Castelló, Alba Sierra‐Marcos

Epilepsia Open. 2024 Dec; 9(6): 2505–2509. Published online 2024 Nov 6. doi: 10.1002/epi4.13077

PMCID:: PMC11633705

Abstract Article PDF–1.6M

Select item 116297299.

Whole Exome Sequencing Revealed Paternal Inheritance of Obesity-related Genetic Variants in a Family with an Exclusively Breastfed Infant

Hazal Banu Olgun Çelebioğlu, Ayşe Pınar Öztürk, Şükran Poyrazoğlu, Feyza Nur Tuncer

J Clin Res Pediatr Endocrinol. 2024 Dec; 16(4): 450–457. Published online 2024 Dec 4. doi: 10.4274/jcrpe.galenos.2024.2024-1-7

PMCID:: PMC11629729

Abstract Article PDF–691K

Select item 1162181210.

Influence of aging and maternal protein restriction on PIWI-interacting RNA expression in the offspring rat ventral prostate

Hecttor S. Baptista, Luiz M. Frediani Portela, Matheus N. Fioretto, Renato Mattos, Isabelle T. Ribeiro, Ana B. Leite Lorente, Jordana I. Nascimento Oliveira, Luis A. Justulin

Sci Rep. 2024; 14: 30372. Published online 2024 Dec 5. doi: 10.1038/s41598-024-77901-w

PMCID:: PMC11621812

Abstract Article PDF–3.5M

Select item 1161568911.

Neonatal diabetes mellitus around the world: Update 2024

Fabrizio Barbetti, Asma Deeb, Shigeru Suzuki

J Diabetes Investig. 2024 Dec; 15(12): 1711–1724. Published online 2024 Sep 30. doi: 10.1111/jdi.14312

PMCID:: PMC11615689

Abstract Article PDF–778K

Select item 1160705012.

Mutations of CYP1B1 and FOXC1 genes for childhood glaucoma in Japanese individuals

Nobuo Fuse, Masae Kimura, Ai Shimizu, Seizo Koshiba, Teruhiko Hamanaka, Makoto Nakamura, Nobuo Ishida, Hiroshi Sakai, Yoko Ikeda, Kazuhiko Mori, Atsushi Endo, Masao Nagasaki, Fumiki Katsuoka, Jun Yasuda, Yoichi Matsubara, Toru Nakazawa, Masayuki Yamamoto

Jpn J Ophthalmol. 2024; 68(6): 688–701. Published online 2024 Aug 19. doi: 10.1007/s10384-024-01103-0

PMCID:: PMC11607050

Abstract Article PDF–2.2M

Select item 1159071413.

Stress Induced Hyperglycemia in Early Childhood as a Clue for the Diagnosis of NEUROD1-MODY

Nur Berna Çelik, Naz Güleray Lafcı, Şenay Savaş-Erdeve, Semra Çetinkaya

J Clin Res Pediatr Endocrinol. 2024 May; 16(2): 218–223. Published online 2024 May 31. doi: 10.4274/jcrpe.galenos.2022.2022-6-15

PMCID:: PMC11590714

Abstract Article PDF–380K

Select item 1154709614.

Functional Evaluation of a Novel Homozygous ADCY3 Variant Causing Childhood Obesity

Idris Mohammed, Senthil Selvaraj, Wesam S. Ahmed, Tara Al-Barazenji, Hajar Dauleh, Donald R. Love, Luis R. Saraiva, Khalid Hussain

Int J Mol Sci. 2024 Nov; 25(21): 11815. Published online 2024 Nov 3. doi: 10.3390/ijms252111815

PMCID:: PMC11547096

Abstract Article PDF–1.1M

Select item 1153974515.

PHARC syndrome: an overview

Lusine Harutyunyan, Patrick Callaerts, Sascha Vermeer

Orphanet J Rare Dis. 2024; 19: 416. Published online 2024 Nov 5. doi: 10.1186/s13023-024-03418-0

Correction in:: Orphanet J Rare Dis. 2025; 20: 10.

PMCID:: PMC11539745

Abstract Article PDF–1.2M

Select item 1153121516.

17q21 Variants Disturb Mucosal Host Defense in Childhood Asthma

Constanze A. Jakwerth, Markus Weckmann, Sabina Illi, Helen Charles, Ulrich M. Zissler, Madlen Oelsner, Ferdinand Guerth, Jimmy Omony, Sai Sneha Priya Nemani, Ruth Grychtol, Anna-Maria Dittrich, Chrysanthi Skevaki, Svenja Foth, Stefanie Weber, Miguel A. Alejandre Alcazar, Silke van Koningsbruggen-Rietschel, Robert Brock, Samira Blau, Gesine Hansen, Thomas Bahmer, Klaus F. Rabe, Folke Brinkmann, Matthias Volkmar Kopp, Adam M. Chaker, Bianca Schaub, Erika von Mutius, Carsten B. Schmidt-Weber, the ALLIANCE Study Group as part of the German Center for Lung Research

Am J Respir Crit Care Med. 2024 Apr 15; 209(8): 947–959. Published online 2023 Dec 8. doi: 10.1164/rccm.202305-0934OC

Correction in:: Am J Respir Crit Care Med. 2024 Jun 15; 209(12): 1519.

Correction in:: Am J Respir Crit Care Med. 2024 Sep 1; 210(5): 697–698.

PMCID:: PMC11531215

Abstract Article PDF–3.5M

Select item 1151570417.

A 5-year natural history study in LAMA2-related muscular dystrophy and SELENON-related myopathy: the Extended LAST STRONG study

E. C. M. de Laat, S.L.S. Houwen- van Opstal, K. Bouman, J. L. M. van Doorn, D. Cameron, N. van Alfen, A. T. M. Dittrich, E. J. Kamsteeg, H. J. M. Smeets, J. T. Groothuis, C. E. Erasmus, Nicol C. Voermans

BMC Neurol. 2024; 24: 409. Published online 2024 Oct 23. doi: 10.1186/s12883-024-03852-4

Correction in:: BMC Neurol. 2024; 24: 477.

PMCID:: PMC11515704

Abstract Article PDF–1.4M

Select item 1149528518.

Childhood Myopic Foveoschisis in LRPAP1-associated Myopia

Mohammad Almazyead, Abdullmajeed S. Alfakhri, Sulaiman M. Alsulaiman

Middle East Afr J Ophthalmol. 2023 Jul-Sep; 30(3): 182–184. Published online 2024 Sep 13. doi: 10.4103/meajo.meajo_151_23

PMCID:: PMC11495285

Abstract Article

Select item 1149149219.

Treatment-Resistant Schizophrenia and Early-Onset Dementia: A Case Report of the 3q29 Deletion Syndrome

Matthew K Harner, Maya Lichtenstein, Martilias Farrell, Tyler E Dietterich, Dawn M Filmyer, Lisa M Bruno, Tamara F Biondi, James J Crowley, Gabriel Lázaro-Muñoz, Robert Stowe, Rita A Shaughnessy, Jonathan S Berg, Jin Szatkiewicz, Patrick F Sullivan, Richard C Josiassen

Schizophr Res. Author manuscript; available in PMC 2024 Oct 21.

Published in final edited form as: Schizophr Res. 2020 Oct; 224: 195–197. Published online 2020 Sep 14. doi: 10.1016/j.schres.2020.08.012

PMCID:: PMC11491492

Article PDF–308K

Select item 1148397020.

Cutaneous vasculitis in autoinflammatory diseases

Ko‐Ron Chen

J Dermatol. 2024 Feb; 51(2): 150–159. Published online 2023 Nov 13. doi: 10.1111/1346-8138.17030

PMCID:: PMC11483970

Abstract Article PDF–4.2M

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