Human Genome Epidemiology Literature Finder
Records 1 - 30 (of 268 Records) |
Query Trace: Short stature[original query] |
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Mutation screening of eight genes and comparison of the clinical data in a Chinese cohort with congenital hypothyroidism. Endocrine 2022 9 79 (1): 125-134. Li Liangshan, Li Xiaole, Wang Xiaoyu, Han Mengmeng, Zhao Dehua, Wang Fang, Liu Shig |
Investigation of genetic and phenotypic heterogeneity in 37 Turkish patients with Kabuki and Kabuki-like phenotype. American journal of medical genetics. Part A 2022 9 188 (10): 2976-2987. Usluer Esra, Say?n Gözde Ye?il, Güne? Nilay, Kasap Bu?ra, Tüysüz Beyh |
STAC3 related congenital myopathy: A case series of seven Comorian patients. European journal of medical genetics 2022 8 65 (10): 104598. Gromand Marie, Gueguen Paul, Pervillé Anne, Ferroul Fanny, Morel Godelieve, Harouna Anrifati, Doray Bérénice, Urtizberea J Andoni, Alessandri Jean-Luc, Robin Stéphan |
Evidence for high breakpoint variability in 46, XX, SRY-positive testicular disorder and frequent ARSE deletion that may be associated with short stature. Andrology 2022 Aug . Capron Céline, Januel Louis, Vieville Gaëlle, Jaillard Sylvie, Kuentz Paul, Salaun Gaëlle, Nadeau Gwenaël, Clement Patrice, Brechard Marie Pierre, Herve Bérénice, Dupont Jean Michel, Gruchy Nicolas, Chambon Pascal, Abdelhedi Fatma, Dahlen Eric, Vago Philippe, Harbuz Radu, Plotton Ingrid, Coutton Charles, Belaud-Rotureau Marc-Antoine, Schluth-Bolard Caroline, Vialard Franço |
Clinical characteristics and long-term outcomes of 12 children with vitamin D-dependent rickets type 1A: A retrospective study. Frontiers in pediatrics 2022 11 10 1007219. Lin Yunting, Guan Zhihong, Mei Huifen, Zhang Wen, Zhou Zhizi, Su Ling, Cheng Jing, Zheng Ruidan, Liang Cuili, Cai Yanna, Yin Xi, Wu Dongyan, Liu Li, Zeng Chunh |
Evaluation of Volumetric Bone Mineral Density, Bone Microarchitecture, and Bone Strength in Patients with Achondroplasia Caused by FGFR3 c.1138G?>?A Mutation. Calcified tissue international 2022 10 112 (1): 13-23. Liang Hanting, Qi Wenting, Jin Chenxi, Pang Qianqian, Liu Wei, Jiang Yan, Wang Ou, Li Mei, Xing Xiaoping, Pan Hui, Xia Wei |
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries. Journal of clinical research in pediatric endocrinology 2023 9 . Priyanka Srivastava, Ankita Tyagi, Chitra Bamba, Anu Kumari, Harvinder Kaur, Saurabh Seth, Anupriya Kaur, Inusha Panigrahi, Devi Dayal, Subhodip Pramanik, Kausik Mand |
Molecular and phenotypic spectrum of cardio-facio-cutaneous syndrome in Chinese patients. Orphanet journal of rare diseases 2023 9 18 (1): 284. Biyun Feng, Xin Li, Qianwen Zhang, Yirou Wang, Shili Gu, Ru-En Yao, Zhiying Li, Shiyang Gao, Guoying Chang, Qun Li, Niu Li, Lijun Fu, Jian Wang, Xiumin Wa |
Clinical and genetic evaluation of children with short stature of unknown origin. BMC medical genomics 2023 8 16 (1): 194. Qianqian Zhao, Yanying Li, Qian Shao, Chuanpeng Zhang, Shuang Kou, Wanling Yang, Mei Zhang, Bo B |
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency. Journal of clinical research in pediatric endocrinology 2023 6 . Asl? Derya Kardelen, Adam Najafli, Firdevs Ba?, Birsen Karaman, Güven Toksoy, ?ükran Poyrazo?lu, ?ahin Avc?, Umut Altuno?lu, Zehra Yava? Abal?, Ay?e P?nar Öztürk, Esin Karak?l?ç Özturan, Seher Ba?aran, Feyza Darendeliler, Z Oya Uygun |
Causal associations between insulin-like growth factor 1 and vitamin D levels: a two-sample bidirectional Mendelian randomization study. Frontiers in nutrition 2023 6 10 1162442. Zhaoyang Gou, Fan Li, Fengzhen Qiao, Gulinuer Maimaititusvn, Fang L |
KMT2B-related dystonia in Indian patients with literature review and emphasis on Asian cohort. Journal of movement disorders 2023 6 . Debjyoti Dhar, Vikram V Holla, Riyanka Kumari, Neeharika Sriram, Jitender Saini, Ravi Yadav, Akhilesh Pandey, Nitish Kamble, Babylakshmi Muthusamy, Pramod Kumar P |
Metabolic Stroke as a Clinical Manifestation of Zhu-Tokita-Takenouchi-Kim Syndrome: A Case Series. Neurology. Genetics 2023 5 9 (3): e200072. Angie El-Said, Jorge Luis Morales, Gian Rossi, Neha Longa |
Novel variants and phenotypic heterogeneity in a cohort of 11 Chinese children with Wiedemann-Steiner syndrome. Frontiers in genetics 2023 4 14 1085210. Lin Yunting, Chen Xiaohong, Xie Bobo, Guan Zhihong, Chen Xiaodan, Li Xiuzhen, Yi Peng, Du Rong, Mei Huifen, Liu Li, Zhang Wen, Zeng Chunh |
Real life long-term efficacy and safety of rhGH therapy in children with SHOX deficiency. Endocrine connections 2023 4 . Bruzzi Patrizia, Vannelli Silvia, Scarano Emanuela, Di Iorgi Natascia, Parpagnoli Maria, Salerno Mariacarolina, Pitea Marco, Street Maria Elisabeth, Secco Andrea, Trettene Adolfo Andrea, Wasniewska Malgorzata, Corciulo Nicola, Tornese Gianluca, Faienza Maria Felicia, Delvecchio Maurizio, Madeo Simona Filomena, Iughetti Loren |
GENETIC FEATURES OF CHILDREN WITH IDIOPATHIC SHORT STATURE. Wiadomosci lekarskie (Warsaw, Poland : 1960) 2023 4 76 (2): 320-325. Ryznychuk Mariana, Bolshova Olena, Kvachenyuk Dmytro, Sprinchuk Natalya, Malinovska Tetia |
Height-Related Polygenic Variants Are Associated with Metabolic Syndrome Risk and Interact with Energy Intake and a Rice-Main Diet to Influence Height in KoGES. Nutrients 2023 4 15 (7): . Park Sunm |
SHOX whole gene duplications are over-represented in SHOX haploinsufficiency phenotype cohorts. Cytogenetic and genome research 2023 3 . Bunyan David J, Hobbs James I, Duncan-Flavell Philippa J, Howarth Rachel J, Beal Sarah, Baralle Diana, Thomas Nicholas Sim |
Exome Sequencing Identifies Multiple Genetic Diagnoses in Children with Syndromic Growth Disorders. The Journal of pediatrics 2023 11 113841. Raissa Carneiro Rezende, Nathalia Liberatoscioli Menezes de Andrade, Naiara Castelo Branco Dantas, Laurana de Polli Cellin, Ana Cristina Victorino Krepischi, Antonio Marcondes Lerario, Alexander Augusto de Lima Jor |
Indian patients with CHST3-related chondrodysplasia with congenital joint dislocations. American journal of medical genetics. Part A 2023 10 . Swati Singh, Prince Jacob, Siddaramappa J Patil, Mamta Muranjan, Hitesh Shah, Katta M Girisha, Gandham SriLakshmi Bhava |
[Clinical and genetic analysis of three children with Legius syndrome due to variants of SPRED1 gene]. Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics 2024 8 41 (8): 941-946. Xi Wang, Yaodong Zhang, Mengmeng Du, Haihua Yang, Xiaojing Liu, Mengqin Wang, Jiajia Chen, Yongxing Chen, Haiyan W |
Noonan syndrome and Noonan-like syndrome with loose anagen hair: rare phenotypes may emerge during follow-up. Translational pediatrics 2024 8 13 (7): 1161-1168. Ziqin Liu, Jianming Lai, Fuying So |
Genetic Correlation of HBB, HFE and HAMP Genes to Endocrinal Complications in Egyptian Beta Thalassemia Major Patients. Biochemical genetics 2024 7 . Mona F Sokkar, Mona Hamdy, Mohamed B Taher, Heba El-Sayed, Eman Abdelmotaleb Bayomi, Khalda S Amr, Ghada Y El-Kam |
Clinical profiles and molecular genetic analyses of 98 Chinese children with short statures. Frontiers in genetics 2024 6 15 1364441. Danfeng Fang, Xing Li, Zhigang Zhang, Hefei Cai, Lu Wang, Jiahe Yu, Xuanye Hu, Bin |
Mutations in the U4 snRNA gene RNU4-2 cause one of the most prevalent monogenic neurodevelopmental disorders. Nature medicine 2024 5 . Daniel Greene, Chantal Thys, Ian R Berry, Joanna Jarvis, Els Ortibus, Andrew D Mumford, Kathleen Freson, Ernest Tur |
Preliminary investigation into the genetic etiology of short stature in children through whole exon sequencing of the core family. Open life sciences 2024 5 19 (1): 20220853. Jinshui He, Shuyun Zhang, Yueya Kang, Yugui Zhang, Zhugui Zheng, Minyi Ru |
Detection of genetic mutations underlying early-onset systemic lupus erythematosus. Lupus 2024 5 9612033241255011. Seher Sener, Erdal Sag, Xu Han, Yelda Bilginer, Qing Zhou, Seza Oz |
Genetic backgrounds and genotype-phenotype relationships in anthropometric parameters of 116 Japanese individuals with Noonan syndrome. Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology 2024 4 33 (2): 50-58. Yasuko Shoji, Ayaha Hata, Takatoshi Maeyama, Tamaki Wada, Yuiko Hasegawa, Eriko Nishi, Shinobu Ida, Yuri Etani, Tetsuya Niihori, Yoko Aoki, Nobuhiko Okamoto, Masanobu Kaw |
Genome Sequencing in an Individual Presenting with 22q11.2 Deletion Syndrome and Juvenile Idiopathic Arthritis. Genes 2024 4 15 (4): . Ruy Pires de Oliveira-Sobrinho, Simone Appenzeller, Ianne Pessoa Holanda, Júlia Lôndero Heleno, Josep Jorente, On Behalf Of The Rare Genomes Project Consortium, Társis Paiva Vieira, Carlos Eduardo Stein |
Clinical manifestations and spermatogenesis outcomes in Chinese patients with congenital hypogonadotropic hypogonadism caused by inherited or de novo FGFR1 mutations. Asian journal of andrology 2024 1 . Yu-Fan Yang, Hai-Lu Ma, Xi Wang, Min Nie, Jiang-Feng Mao, Xue-Yan |
- Page last reviewed:Feb 1, 2024
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