Clinical outcomes and medical management of achondroplasia in Japanese children: A retrospective medical record review of clinical data.

Autor: Saitou H; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kitaoka T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kubota T; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan., Kanno J; Department of Pediatrics, Tohoku University Graduate School of Medicine, Sendai, Japan., Mochizuki H; Division of Endocrinology and Metabolism, Saitama Children's Medical Center, Saitama, Japan., Michigami T; Department of Bone and Mineral Research, Research Institute, Osaka Women's and Children's Hospital, Izumi, Japan., Hasegawa K; Department of Pediatrics, Okayama University Hospital, Okayama, Japan., Fujiwara I; Department of Pediatrics, Sendai City Hospital, Sendai, Japan., Hamajima T; Department of Endocrinology and Metabolism, Aichi Children's Health and Medical Center, Aichi, Japan., Harada D; Department of Pediatrics, Osaka Hospital, Japan Community of Health Care Organization (JCHO), Osaka, Japan., Seki Y; Department of Pediatrics, Kagoshima University School of Medicine, Kagoshima, Japan., Nagasaki K; Department of Pediatrics, Niigata University Medical & Dental Hospital, Niigata, Japan., Dateki S; Department of Pediatrics, Nagasaki University Graduate School of Biomedical Sciences, Nagasaki, Japan., Namba N; Division of Pediatrics and Perinatology, Faculty of Medicine, Tottori University, Tottori, Japan., Tokuoka H; BioMarin Pharmaceutical Japan K.K., Tokyo, Japan., Pimenta JM; BioMarin (U.K.) Limited, London, UK., Cohen S; BioMarin (U.K.) Limited, London, UK., Ozono K; Department of Pediatrics, Osaka University Graduate School of Medicine, Suita, Japan.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Aug; Vol. 194 (8), pp. e63612. Date of Electronic Publication: 2024 Mar 30.

Clinically significant findings in a decade‐long retrospective study of prenatal chromosomal microarray testing.

Autor: Olayiwola, Joie O.^1,2 (AUTHOR), Marhabaie, Mohammad¹ (AUTHOR), Koboldt, Daniel^1,3 (AUTHOR), Matthews, Theodora^1,3 (AUTHOR), Siemon, Amy^1,3 (AUTHOR), Mouhlas, Danielle^1,3 (AUTHOR), Porter, Taylor^1,3 (AUTHOR), Kyle, George^1,3 (AUTHOR), Myers, Cortlandt^1,3 (AUTHOR), Mei, Hui^1,2,3 (AUTHOR), Hou, Ying‐Chen Claire^1,2,3 (AUTHOR), Babcock, Melanie^1,2,3 (AUTHOR), Hunter, Jesse^1,2,3 (AUTHOR), Schieffer, Kathleen M.^1,2,3 (AUTHOR), Akkari, Yassmine^1,2 (AUTHOR), Reshmi, Shalini^1,2,3 (AUTHOR), Cottrell, Catherine^1,2,3 (AUTHOR), Mathew, Mariam T.^1,2,3 (AUTHOR), Leung, Marco L.^1,2,3 (AUTHOR) marco.leung@nationwidechildrens.org

Publikováno v: Molecular Genetics & Genomic Medicine. Mar2024, Vol. 12 Issue 3, p1-14. 14p.

Vesicoureteric Reflux in Sibships.

Autor: UEHLING, D. T., VLACH, R. E., PAULI, R. M., FRIEDMAN, A. L.

Publikováno v: British Journal of Urology; 1992, Vol. 69 Issue 5, p534-537, 4p

Identification of a novel LMX1B nonsense variant associated with congenital talipes equinovarus by prenatal exome sequencing: A case report.

Autor: Chen, Jing^1,2,3 (AUTHOR), Xiang, Qinqin^1,2,3 (AUTHOR), Xiao, Xiao^1,2,3 (AUTHOR), Xu, Bocheng^1,2,3 (AUTHOR), Xie, Hanbing^1,2,3 (AUTHOR), Wang, He^1,2,3 (AUTHOR), Yang, Mei^1,2,3 (AUTHOR) yangmei03182016@163.com, Liu, Shanling^1,2,3 (AUTHOR) sunny630@126.com

Publikováno v: Molecular Genetics & Genomic Medicine. Jan2024, Vol. 12 Issue 1, p1-8. 8p.

Growth reference charts for children with hypochondroplasia.

Autor: Cheung MS; Great Ormond Street Hospital for Children, London, UK., Cole TJ; UCL Great Ormond Street Institute of Child Health, London, UK., Arundel P; Sheffield Children's Hospital NHS Foundation Trust, Sheffield, UK., Bridges N; Department of Paediatric Endocrinology, Chelsea and Westminster Hospital, London, UK., Burren CP; Paediatric Endocrinology and Diabetes Department, Bristol Royal Hospital for Children, University Hospitals Bristol and Weston NHS Foundation Trust, Bristol, UK., Cole T; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Davies JH; Regional Centre for Paediatric Endocrinology, University Hospital Southampton NHS Foundation Trust, Southampton Children's Hospital, University of Southampton, Southampton, UK., Hagenäs L; Paediatric Endocrine Unit, Paediatric Clinic, Karolinska Hospital, Stockholm, Sweden., Högler W; Institute of Metabolism & Systems Research, University of Birmingham, Birmingham, UK., Hulse A; Evelina Children's Hospital, St. Thomas' Hospital, London, UK., Mason A; Department of Endocrinology (E.M.F.), Queen Elizabeth University Hospital, Glasgow, UK., McDonnell C; Department of Paediatric Endocrinology & Diabetes, Children's Health Ireland, Dublin, Ireland.; Discipline of Paediatrics, School of Medicine, Trinity College Dublin, Dublin, Ireland., Merker A; Department of Women and Child Health, Karolinska Institute, Stockholm, Sweden., Mohnike K; Department of Paediatrics, Otto-von-Guericke-University Magdeburg, Magdeburg, Germany., Sabir A; Birmingham Health Partners, West Midlands Regional Genetics Service, Birmingham Women's and Children's National Health Service (NHS) Foundation Trust, Birmingham, UK., Skae M; Department of Pediatric Endocrinology, Royal Manchester Children's Hospital, Manchester, UK., Rothenbuhler A; Department of Endocrinology and Diabetology for Children, Bicetre Paris-Saclay University Hospital, Le Kremlin Bicetre, France., Warner J; Noah's Ark Children's Hospital for Wales, University Hospital of Wales, Cardiff, UK., Irving M; Guy's and St Thomas' NHS Foundation Trust, London, UK.

Publikováno v: American journal of medical genetics. Part A [Am J Med Genet A] 2024 Feb; Vol. 194 (2), pp. 243-252. Date of Electronic Publication: 2023 Oct 09.