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Starter badań:

Tytuł:
SHOX Variations in Idiopathic Short Stature in North India and a Review of Cases from Asian Countries
Autorzy:
Srivastava P; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Tyagi A; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Bamba C; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Kumari A; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Kaur H; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Child Growth and Anthropology Unit, Chandigarh, India
Seth S; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Kaur A; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Panigrahi I; Advanced Pediatrics Centre (APC), Postgraduate Institute of Medical Education & Research (PGIMER), Genetic Metabolic Unit, Chandigarh, India
Dayal D; Advanced Pediatrics Centre, Postgraduate Institute of Medical Education & Research (PGIMER), Pediatric Endocrinology Unit, Chandigarh, India
Pramanik S; IPGMER and SSKM Hospital, Clinic of Endocrinology, Kolkata, India
Mandal K; Sanjay Gandhi Postgraduate Institute of Medical Sciences (SGPGIMS), Department of Medical Genetics, Lucknow, India
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 41-49. Date of Electronic Publication: 2023 Sep 26.
Typ publikacji:
Meta-Analysis; Review; Journal Article
MeSH Terms:
Dwarfism*/epidemiology
Dwarfism*/genetics
Osteochondrodysplasias*/genetics
Child ; Female ; Humans ; Genes, Homeobox ; Homeodomain Proteins/genetics ; Short Stature Homeobox Protein/genetics ; Growth Disorders/epidemiology ; Growth Disorders/genetics ; India/epidemiology
Czasopismo naukowe
Tytuł:
Transcriptomic and Phenotypic Analyses Reveal the Molecular Mechanism of Dwarfing in Tetraploid Robinia pseudoacacia L.
Autorzy:
Wu Y; State Key Laboratory of Tree Genetics and Breeding, Engineering Technology Research Center of Black Locust of National Forestry and Grassland Administration, National Engineering Research Center of Tree Breeding and Ecological Restoration, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China.
Guo Q; State Key Laboratory of Tree Genetics and Breeding, Engineering Technology Research Center of Black Locust of National Forestry and Grassland Administration, National Engineering Research Center of Tree Breeding and Ecological Restoration, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China.
Long C; State Key Laboratory of Tree Genetics and Breeding, Engineering Technology Research Center of Black Locust of National Forestry and Grassland Administration, National Engineering Research Center of Tree Breeding and Ecological Restoration, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China.
El-Kassaby YA; Department of Forest and Conservation Sciences Faculty of Forestry, The University of British Columbia, 2424 Main Mall, Vancouver, BC V6T 1Z4, Canada.
Sun Y; State Key Laboratory of Tree Genetics and Breeding, Engineering Technology Research Center of Black Locust of National Forestry and Grassland Administration, National Engineering Research Center of Tree Breeding and Ecological Restoration, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China.
Li Y; State Key Laboratory of Tree Genetics and Breeding, Engineering Technology Research Center of Black Locust of National Forestry and Grassland Administration, National Engineering Research Center of Tree Breeding and Ecological Restoration, College of Biological Sciences and Technology, Beijing Forestry University, Beijing 100083, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Jan 21; Vol. 25 (2). Date of Electronic Publication: 2024 Jan 21.
Typ publikacji:
Journal Article
MeSH Terms:
Robinia*/genetics
Dwarfism*
Transcriptome ; Tetraploidy ; Plant Growth Regulators/metabolism ; Plant Breeding ; Gene Expression Profiling ; Gene Expression Regulation, Plant
Czasopismo naukowe
Tytuł:
Bone Phenotype is Always Present But Androgen Excess is Less Frequently Seen in PAPSS2 Deficiency
Autorzy:
Helvacıoğlu D; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey
Güran T; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology and Diabetes, İstanbul, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 4-10. Date of Electronic Publication: 2023 Dec 12.
Typ publikacji:
Review; Journal Article
MeSH Terms:
Androgens*
Dwarfism*
Humans ; Phenotype
Czasopismo naukowe
Tytuł:
Clinical Variability in a Family with Noonan Syndrome with a Homozygous PTPN11 Gene Variant in Two Individuals
Autorzy:
Yıldırım R; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
Unal E; Dicle University Faculty of Medicine, Department of Pediatric Endocrinology, Diyarbakır, Turkey
Özalkak Ş; Diyarbakır Children’s Hospital, Clinic of Pediatric Endocrinology, Diyarbakır, Turkey
Akalın A; Diyarbakır Children’s Hospital, Clinic of Pediatric Genetics, Diyarbakır, Turkey
Aykut A; Ege University Faculty of Medicine, Department of Genetics, İzmir, Turkey
Yılmaz N; Diyarbakır Children’s Hospital, Department of Pediatric Psychiatry, Diyarbakır, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2024 Mar 11; Vol. 16 (1), pp. 76-83. Date of Electronic Publication: 2023 Oct 17.
Typ publikacji:
Journal Article
MeSH Terms:
Noonan Syndrome*/diagnosis
Noonan Syndrome*/genetics
Dwarfism*
Humans ; Protein Tyrosine Phosphatase, Non-Receptor Type 11/genetics ; Heterozygote ; Phenotype
Czasopismo naukowe
Tytuł:
Unravelling the Intricate Roles of FAM111A and FAM111B: From Protease-Mediated Cellular Processes to Disease Implications.
Autorzy:
Naicker D; Division of Medical Biochemistry, Department of Integrative Biomedical Sciences, University of Cape Town, Cape Town 7925, South Africa.
Rhoda C; Hair and Skin Research Unit, Division of Dermatology, Department of Medicine, University of Cape Town, Cape Town 7925, South Africa.
Sunda F; Hair and Skin Research Unit, Division of Dermatology, Department of Medicine, University of Cape Town, Cape Town 7925, South Africa.
Arowolo A; Hair and Skin Research Unit, Division of Dermatology, Department of Medicine, University of Cape Town, Cape Town 7925, South Africa.; Biomedical Research and Innovation Platform, South African Medical Research Council, Cape Town 7500, South Africa.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Feb 29; Vol. 25 (5). Date of Electronic Publication: 2024 Feb 29.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Dwarfism*/genetics
Bone Diseases, Developmental*
Humans ; Peptide Hydrolases/genetics ; Mutation ; Cell Cycle Proteins/metabolism ; Endopeptidases/genetics ; Receptors, Virus/metabolism
Czasopismo naukowe
Tytuł:
Re: Propofol in Triple Trouble Kearns-Sayre Syndrome, Dyggve-Melchior-Clausen Syndrome, and Chromosome-9 Inversion.
Autorzy:
Mehri S; Biochemistry Laboratory, University of Monastir, Monastir, Tunisia.
Zarrouk S; Genomis Platform, University of Tunis El Manar, Tunis, Tunisia.
Finsterer J; Neurology & Neurophysiology Center, Vienna, Austria.
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Źródło:
Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2024 Feb; Vol. 24 (1), pp. 146-148. Date of Electronic Publication: 2024 Feb 28.
Typ publikacji:
Journal Article; Comment
MeSH Terms:
Propofol*/pharmacology
Propofol*/therapeutic use
Kearns-Sayre Syndrome*
Dwarfism*
Intellectual Disability*
Osteochondrodysplasias/*congenital
Humans ; Chromosomes
SCR Disease Name:
Dyggve-Melchior-Clausen syndrome
Czasopismo naukowe
Tytuł:
A novel heterozygous mutation in PTHLH causing autosomal dominant brachydactyly type E complicated with short stature.
Autorzy:
Sun J; Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Yang N; Department of Pediatrics, LinShu People's Hospital, Linyi, China.
Xu Z; Department of Orthopaedics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Cheng H; Center for Reproduction and Genetics, NHC Key Laboratory of Male Reproduction and Genetics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
Zhang X; Department of Orthopaedics, Suzhou Municipal Hospital, The Affiliated Suzhou Hospital of Nanjing Medical University, Suzhou, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Feb; Vol. 12 (2), pp. e2393.
Typ publikacji:
Journal Article
MeSH Terms:
Brachydactyly*/genetics
Dwarfism*
Humans ; Codon, Nonsense ; Mutation ; Parathyroid Hormone-Related Protein/genetics
SCR Disease Name:
Brachydactyly, Type E
Czasopismo naukowe
Tytuł:
ROR2-Related Skeletal Dysplasia Reveals Disrupted Chondrocyte Polarity through Modulation of BMP/TGF-β Signaling.
Autorzy:
Yao Y; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, China.; Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.
Wang X; Department of Medicine, Harvard Medical School, Boston, MA, USA.; Jeff and Penny Vinik Center for Translational Immunology Research, Division of Allergy and Clinical Immunology, Brigham and Women's Hospital, Boston, MA, USA.
Lin L; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, China.; Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.
Zhang X; Department of Stomatology, the Eighth Affiliated Hospital, Sun Yat-sen University, Shen Zhen, Guangdong, China.
Wang Y; Hospital of Stomatology, Guanghua School of Stomatology, Sun Yat-sen University, China.; Guangdong Provincial Key Laboratory of Stomatology, Guangzhou, China.
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Źródło:
Aging and disease [Aging Dis] 2024 Feb 01; Vol. 15 (1), pp. 282-294. Date of Electronic Publication: 2024 Feb 01.
Typ publikacji:
Journal Article
MeSH Terms:
Chondrocytes*
Osteogenesis*/genetics
Dwarfism*
Urogenital Abnormalities*
Limb Deformities, Congenital*
Craniofacial Abnormalities*
Mice ; Animals ; Cell Differentiation/genetics ; Osteoblasts ; Transforming Growth Factor beta/metabolism
SCR Disease Name:
Robinow Syndrome
Czasopismo naukowe
Tytuł:
Prenatal diagnosis and preimplantation genetics testing of 3M syndrome in a Chinese family with novel biallelic variants of CUL7.
Autorzy:
Wang X; Department of Prenatal Screening and Diagnosis Center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.; Nantong Institute of Genetics and Reproductive Medicine, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.
He Y; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
Wang X; Center for Reproductive Medicine, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.
Kong X; Department of Prenatal Screening and Diagnosis Center, Affiliated Maternity and Child Health Care Hospital of Nantong University, Nantong, Jiangsu, China.
Lin Y; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
Yao Y; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
Huang Y; Center for Reproductive Medicine, Ren Ji Hospital, School of Medicine, Shanghai Jiao Tong University, Shanghai, China.; Shanghai Key Laboratory for Assisted Reproduction and Reproductive Genetics, Shanghai, China.
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Źródło:
Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Jan; Vol. 12 (1), pp. e2284. Date of Electronic Publication: 2023 Oct 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Semen*
Dwarfism*/genetics
Muscle Hypotonia*
Spine/*abnormalities
Child ; Infant ; Pregnancy ; Female ; Humans ; Male ; Prenatal Diagnosis ; China ; Cullin Proteins/genetics ; Cytoskeletal Proteins/genetics
SCR Disease Name:
Miller-McKusick-Malvaux-Syndrome (3M Syndrome)
Czasopismo naukowe
Tytuł:
Analysis of the Candidate Genes and Underlying Molecular Mechanism of P198, an RNAi-Related Dwarf and Sterile Line.
Autorzy:
Zhao S; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; College of Life Science and Technology, Huazhong Agricultural University, Wuhan 430070, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
Luo J; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
Tang M; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
Zhang C; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
Song M; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
Wu G; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
Yan X; Key Laboratory of Biology and Genetic Improvement of Oil Crops, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Key Laboratory of Agricultural Genetically Modified Organisms Traceability, Ministry of Agriculture and Rural Affairs, Oil Crops Research Institute, Chinese Academy of Agricultural Sciences, Wuhan 430062, China.; Supervision and Test Center (Wuhan) for Plant Ecological Environment Safety, Ministry of Agriculture and Rural Affairs, Wuhan 430062, China.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Dec 22; Vol. 25 (1). Date of Electronic Publication: 2023 Dec 22.
Typ publikacji:
Journal Article
MeSH Terms:
Infertility*
Brassica napus*/genetics
Dwarfism*
RNA Interference ; RNA
Czasopismo naukowe
Tytuł:
Identification of novel homozygous nonsense SLC10A7 variant causing short stature, amelogenesis imperfecta, and skeletal dysplasia with scoliosis and surgical management of spine.
Autorzy:
Zhang W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.
Yao Z; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Guo R; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China.
Cao J; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China.
Li W; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China.; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China.
Hao C; Beijing Key Laboratory for Genetics of Birth Defects, MOE Key Laboratory of Major Diseases in Children, Beijing Children's Hospital, Beijing Pediatric Research Institute, Capital Medical University, National Center for Children's Health, Beijing, China. .; Henan Key Laboratory of Pediatric Inherited & Metabolic Diseases, Henan Children's Hospital, Zhengzhou Hospital of Beijing Children's Hospital, Zhengzhou, China. .
Zhang X; Department of Orthopedics, Beijing Children's Hospital, Capital Medical University, National Center for Children's Health, Beijing, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Nov 30; Vol. 18 (1), pp. 371. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:
Case Reports; Journal Article; Review
MeSH Terms:
Amelogenesis Imperfecta*/genetics
Amelogenesis Imperfecta*/surgery
Dwarfism*/genetics
Dwarfism*/surgery
Osteochondrodysplasias*/genetics
Osteochondrodysplasias*/surgery
Scoliosis*/genetics
Scoliosis*/surgery
Humans ; Homozygote ; Mutation/genetics ; Pedigree
Czasopismo naukowe
Tytuł:
Propofol and Kearns-Sayre Syndrome: An idiographic approach.
Autorzy:
Maddali MM; Departments of Cardiac Anaesthesia.
Munasinghe TD; Departments of Cardiac Anaesthesia.
Al Aamri I; Departments of Cardiac Anaesthesia.
Al-Abri IA; Pediatric Cardiology, National Heart Center, Royal Hospital, Muscat, Oman.
Al-Adawi S; Department of Behavioral Medicine, Sultan Qaboos University Hospital, Sultan Qaboos University, Muscat, Oman.
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Źródło:
Sultan Qaboos University medical journal [Sultan Qaboos Univ Med J] 2023 Dec; Vol. 23 (Spec Iss), pp. 63-67. Date of Electronic Publication: 2023 Nov 30.
Typ publikacji:
Case Reports
MeSH Terms:
Kearns-Sayre Syndrome*
Propofol*/therapeutic use
Dwarfism*
Female ; Humans ; Adolescent ; Oman
Raport
Tytuł:
A Novel Pathogenic IGSF1 Variant in a Patient with GH and TSH Deficiency Diagnosed by High IGF-I Values at Transition to Adult Care
Autorzy:
Kardelen AD; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Karakılıç Özturan E; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Poyrazoğlu Ş; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Baş F; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Ceylaner S; Intergen Genetic Research Center, Ankara, Turkey
Joustra SD; Willem-Alexander Children’s Hospital; Leiden University Medical Center, Department of Pediatrics, Division of Pediatric Endocrinology, Leiden, Netherlands
Wit JM; Willem-Alexander Children’s Hospital; Leiden University Medical Center, Department of Pediatrics, Division of Pediatric Endocrinology, Leiden, Netherlands
Darendeliler F; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Nov 22; Vol. 15 (4), pp. 431-437. Date of Electronic Publication: 2022 Apr 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Dwarfism, Pituitary*
Hypothyroidism*/drug therapy
Transition to Adult Care*
Adolescent ; Humans ; Male ; Immunoglobulins ; Insulin-Like Growth Factor I ; Membrane Proteins ; Prolactin ; Testosterone ; Thyrotropin
Czasopismo naukowe
Tytuł:
PROKR2 Mutations in Patients with Short Stature Who Have Isolated Growth Hormone Deficiency and Multiple Pituitary Hormone Deficiency
Autorzy:
Kardelen AD; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Najafli A; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Baş F; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Karaman B; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; İstanbul University, Institute of Child Health, Department of Pediatric Basic Sciences, İstanbul, Turkey
Toksoy G; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Poyrazoğlu Ş; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Avcı Ş; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; Koç University Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Altunoğlu U; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Yavaş Abalı Z; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey; Marmara University Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Öztürk AP; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Karakılıç Özturan E; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Başaran S; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
Darendeliler F; İstanbul University, İstanbul Faculty of Medicine, Department of Pediatric Endocrinology, İstanbul, Turkey
Uyguner ZO; İstanbul University, İstanbul Faculty of Medicine, Department of Medical Genetics, İstanbul, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Nov 22; Vol. 15 (4), pp. 338-347. Date of Electronic Publication: 2023 Jun 20.
Typ publikacji:
Journal Article
MeSH Terms:
Growth Hormone*/genetics
Pituitary Hormones*/genetics
Dwarfism, Pituitary*/genetics
Receptors, G-Protein-Coupled*/genetics
Humans ; Pedigree ; Male ; Female ; Infant ; Child ; Consanguinity
Czasopismo naukowe
Tytuł:
A Novel Heterozygous NF1 Variant in a Neurofibromatosis-Noonan Syndrome Patient with Growth Hormone Deficiency: A Case Report
Autorzy:
Qin S; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Zhang Y; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Yu F; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Ni Y; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
Zhong J; The Third Affiliated Hospital of Chongqing Medical University, Department of Endocrinology, Chongqing, China
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Nov 22; Vol. 15 (4), pp. 438-443. Date of Electronic Publication: 2022 May 31.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Neurofibromatosis 1*/complications
Neurofibromatosis 1*/genetics
Neurofibromatosis 1*/diagnosis
Neurofibromatoses*/diagnosis
Dwarfism, Pituitary*
Male ; Humans ; Child ; Growth Hormone
SCR Disease Name:
Neurofibromatosis-Noonan syndrome
Czasopismo naukowe
Tytuł:
The Effects of Natural Product-Derived Extracts for Longitudinal Bone Growth: An Overview of In Vivo Experiments.
Autorzy:
Lim DW; Division of Functional Food Research, Korea Food Research Institute, Wanju 55365, Republic of Korea.
Lee C; Division of Functional Food Research, Korea Food Research Institute, Wanju 55365, Republic of Korea.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Nov 22; Vol. 24 (23). Date of Electronic Publication: 2023 Nov 22.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Biological Products*/pharmacology
Biological Products*/therapeutic use
Human Growth Hormone*/pharmacology
Dwarfism*
Child ; Humans ; Insulin-Like Growth Factor I/metabolism ; Growth Disorders/drug therapy ; Bone Development
Czasopismo naukowe
Tytuł:
Challenges in the care of individuals with severe primary insulin-like growth factor-I deficiency (SPIGFD): an international, multi-stakeholder perspective.
Autorzy:
Backeljauw PF; Cincinnati Children's Hospital Medical Center, University of Cincinnati College of Medicine, Cincinnati, OH, USA. .
Andrews M; The Major Aspects of Growth in Children (MAGIC) Foundation, Warrenville, IL, USA.; The MAGIC Foundation International Coalition for Organizations Supporting Endocrine Patients (MAGIC-ICOSEP), Atlanta, GA, USA.
Bang P; Division of Children's and Women's Health, Department of Biomedical and Clinical Sciences (BKV), Faculty of Health Sciences, Linköping University, Linköping, Sweden.
Dalle Molle L; Caregiver Representative, Cincinnati, OH, USA.
Deal CL; Université de Montréal, Montréal, QC, Canada.; Centre Hospitalier Universitaire (CHU) Sainte-Justine, Montréal, QC, Canada.
Harvey J; The Major Aspects of Growth in Children (MAGIC) Foundation, Warrenville, IL, USA.; The MAGIC Foundation International Coalition for Organizations Supporting Endocrine Patients (MAGIC-ICOSEP), Atlanta, GA, USA.
Langham S; Paediatric Endocrinology, Great Ormond Street Hospital UCL Hospitals, London, UK.
Petriczko E; Department of Paediatrics, Endocrinology, Diabetology, Metabolic Disorders, and Cardiology of Developmental Age, Pomeranian Medical University, Szczecin, Poland.
Polak M; Department of Pediatric Endocrinology, Gynecology and Diabetology, Hôpital Universitaire Necker Enfants Malades, Assistance Publique Hôpitaux de Paris, Université Paris Cité, Paris, France.
Storr HL; Centre for Endocrinology, William Harvey Research Institute, Barts and the London School of Medicine and Dentistry, Queen Mary University of London, London, UK.
Dattani MT; Paediatric Endocrinology, Great Ormond Street Hospital UCL Hospitals, London, UK. .; UCL Great Ormond Street Institute of Child Health, London, UK. .; Adolescent Endocrinology, UCL Hospitals, London, UK. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Oct 07; Vol. 18 (1), pp. 312. Date of Electronic Publication: 2023 Oct 07.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Laron Syndrome*/diagnosis
Laron Syndrome*/drug therapy
Laron Syndrome*/genetics
Dwarfism*/drug therapy
Humans ; Insulin-Like Growth Factor I/therapeutic use ; Quality of Life ; Growth Disorders
Czasopismo naukowe
Tytuł:
Novel pathogenic NPR2 variants in short stature patients and the therapeutic response to rhGH.
Autorzy:
Chen H; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.; Laboratory Center of Fuzhou Children's Hospital, Fujian Medical University, Fuzhou, Fujian Province, China.
Zhang S; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.
Sun Y; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.
Chen J; Department of Pediatrics, The Lin'an People's Hospital, Hangzhou, Zhejiang Province, China.
Yuan K; Department of Pediatrics, The First Affiliated Hospital of Zhejiang University School of Medicine, Hangzhou, Zhejiang Province, China.
Zhang Y; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.
Yang X; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.
Lin X; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China.
Chen R; Endocrinology Department, Fuzhou Children's Hospital of Fujian Medical University, Fuzhou, 350005, Fujian, China. .
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Źródło:
Orphanet journal of rare diseases [Orphanet J Rare Dis] 2023 Jul 27; Vol. 18 (1), pp. 221. Date of Electronic Publication: 2023 Jul 27.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Dwarfism*/drug therapy
Dwarfism*/genetics
Growth Hormone*/genetics
Growth Hormone*/therapeutic use
Receptors, Atrial Natriuretic Factor*/genetics
Child ; Child, Preschool ; Humans ; Adenosine Triphosphate ; Body Height ; Molecular Docking Simulation ; Mutation
Czasopismo naukowe
Tytuł:
Multiple Roles of the RUNX Gene Family in Hepatocellular Carcinoma and Their Potential Clinical Implications.
Autorzy:
Krajnović M; Laboratory for Radiobiology and Molecular Genetics, Vinča Institute of Nuclear Sciences, National Institute of the Republic of Serbia, University of Belgrade, Mike Petrovića Alasa 12-14, Vinča, 11351 Belgrade, Serbia.
Kožik B; Laboratory for Radiobiology and Molecular Genetics, Vinča Institute of Nuclear Sciences, National Institute of the Republic of Serbia, University of Belgrade, Mike Petrovića Alasa 12-14, Vinča, 11351 Belgrade, Serbia.
Božović A; Laboratory for Radiobiology and Molecular Genetics, Vinča Institute of Nuclear Sciences, National Institute of the Republic of Serbia, University of Belgrade, Mike Petrovića Alasa 12-14, Vinča, 11351 Belgrade, Serbia.
Jovanović-Ćupić S; Laboratory for Radiobiology and Molecular Genetics, Vinča Institute of Nuclear Sciences, National Institute of the Republic of Serbia, University of Belgrade, Mike Petrovića Alasa 12-14, Vinča, 11351 Belgrade, Serbia.
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Źródło:
Cells [Cells] 2023 Sep 19; Vol. 12 (18). Date of Electronic Publication: 2023 Sep 19.
Typ publikacji:
Journal Article; Review; Research Support, Non-U.S. Gov't
MeSH Terms:
Carcinoma, Hepatocellular*/genetics
Liver Neoplasms*/genetics
Dwarfism*
Humans ; Oncogenes ; Carcinogenesis
Czasopismo naukowe
Tytuł:
An Endocrinological Perspective on 22q11.2 Deletion Syndrome: A Single-center Experience
Autorzy:
Denkboy Öngen Y; Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
Özemri Sağ Ş; Bursa Uludağ University Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
Temel ŞG; Bursa Uludağ University Faculty of Medicine, Department of Medical Genetics, Bursa, Turkey
Eren E; Bursa Uludağ University Faculty of Medicine, Department of Pediatric Endocrinology, Bursa, Turkey
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Źródło:
Journal of clinical research in pediatric endocrinology [J Clin Res Pediatr Endocrinol] 2023 Aug 23; Vol. 15 (3), pp. 285-292. Date of Electronic Publication: 2023 Apr 19.
Typ publikacji:
Journal Article
MeSH Terms:
DiGeorge Syndrome*/complications
DiGeorge Syndrome*/diagnosis
DiGeorge Syndrome*/genetics
Hypocalcemia*/diagnosis
Hypocalcemia*/genetics
Diabetes Mellitus, Type 2*/genetics
Hypoparathyroidism*/diagnosis
Hypoparathyroidism*/complications
Dwarfism*/genetics
Humans ; Calcium ; In Situ Hybridization, Fluorescence ; Parathyroid Hormone ; Chromosome Deletion ; Phosphorus
Czasopismo naukowe

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