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Tytuł:
Smelling TNT: Trends of the Terminal Nerve.
Autorzy:
Ruqa WA; Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, 00161 Roma, Italy.
Pennacchia F; Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, 00161 Roma, Italy.
Rusi E; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
Zoccali F; Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, 00161 Roma, Italy.
Bruno G; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
Talarico G; Department of Human Neuroscience, Sapienza University of Rome, 00185 Rome, Italy.
Barbato C; Institute of Biochemistry and Cell Biology (IBBC-CNR), Sapienza University Rome, Policlinico Umberto I, 00161 Roma, Italy.
Minni A; Department of Sense Organs, Sapienza University of Rome, Policlinico Umberto I, 00161 Roma, Italy.; Division of Otolaryngology-Head and Neck Surgery, ASL Rieti-Sapienza University, Ospedale San Camillo de Lellis, 02100 Rieti, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2024 Mar 31; Vol. 25 (7). Date of Electronic Publication: 2024 Mar 31.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Kallmann Syndrome*
COVID-19*
Animals ; Humans ; Smell ; Nerve Endings ; Autonomic Nervous System
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
Autorzy:
Ben-Mahmoud A; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Kishikawa S; Gene Engineering Division, RIKEN BioResource Research Center, Tsukuba, Japan.
Gupta V; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar.
Leach NT; Integrated Genetics, Laboratory Corporation of America Holdings, 3400 Computer Drive, Westborough, MA, 01581, USA.
Shen Y; Division of Genetics and Genomics at Boston Children's Hospital, Harvard Medical School, Boston, MA, 02114, USA.
Moldovan O; Medical Genetics Service, Pediatric Department, Hospital Santa Maria, Centro Hospitalar Universitário Lisboa Norte, Lisbon, Portugal.
Goel H; Hunter Genetics, Waratah, NSW, 2298, Australia.; University of Newcastle, Callaghan, NSW, 2308, Australia.
Hopper B; Forster Genetics-Hunter New England Local Health District, Forster, NSW, 2428, Australia.
Ranguin K; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France.
Gruchy N; Department of Genetics, Reference Center for Rare Diseases of Developmental anomalies and polymalformative syndrome, CHU de Caen Normandie, Caen, France.
Maas SM; Department of Human Genetics, Amsterdam University Medical Center, Amsterdam, the Netherlands.; Reproduction and Development Research Institute, University of Amsterdam, Amsterdam, the Netherlands.
Lacassie Y; Division of Genetics, Department of Pediatrics, Louisiana State University, New Orleans, LA, 70118, USA.
Kim SH; Molecular and Clinical Sciences Research Institute, St. George's, University of London, London, UK.
Kim WY; Department of Biological Sciences, Kent State University, Kent, OH, 44242, USA.
Quade BJ; Department of Pathology, Brigham and Women's Hospital, Harvard Medical School, Boston, MA, 02115, USA.
Morton CC; Departments of Obstetrics and Gynecology and of Pathology, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, 02115, USA.; Broad Institute of MIT and Harvard, Cambridge, MA, 02142, USA.; Manchester Centre for Audiology and Deafness, School of Health Sciences, University of Manchester, Manchester, UK.
Kim CH; Department of Biology, Chungnam National University, Daejeon, 34134, Korea.
Layman LC; Section of Reproductive Endocrinology, Infertility and Genetics, Department of Obstetrics and Gynecology, Augusta University, Augusta, GA, USA.; Department of Neuroscience and Regenerative Medicine, Augusta University, Augusta, GA, USA.
Kim HG; Neurological Disorders Research Center, Qatar Biomedical Research Institute, Hamad Bin Khalifa University, Doha, Qatar. .; College of Health and Life Sciences, Hamad Bin Khalifa University, Doha, Qatar. .
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Źródło:
Scientific reports [Sci Rep] 2023 Aug 10; Vol. 13 (1), pp. 12984. Date of Electronic Publication: 2023 Aug 10.
Typ publikacji:
Journal Article; Research Support, N.I.H., Extramural; Research Support, Non-U.S. Gov't
MeSH Terms:
Intellectual Disability*/genetics
Kallmann Syndrome*/genetics
Humans ; Carrier Proteins/genetics ; Comparative Genomic Hybridization ; DNA Copy Number Variations ; Membrane Proteins/genetics ; Tetraspanins/genetics ; Translocation, Genetic
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
Autorzy:
Cannarella R; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Gusmano C; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Condorelli RA; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Bernini A; Department of Biotechnology, Chemistry and Pharmacy, University of Siena, 53100 Siena, Italy.
Kaftalli J; Diagnostics Unit, MAGI EUREGIO, 39100 Bolzano, Italy.
Maltese PE; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
Paolacci S; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
Dautaj A; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
Marceddu G; Diagnostics Unit, MAGI EUREGIO, 39100 Bolzano, Italy.
Bertelli M; Diagnostics Unit, MAGI EUREGIO, 39100 Bolzano, Italy.; Diagnostics Unit, MAGI'S LAB, 38068 Rovereto, Italy.
La Vignera S; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
Calogero AE; Department of Clinical and Experimental Medicine, University of Catania, Via S. Sofia 78, 95123 Catania, Italy.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2023 Apr 18; Vol. 24 (8). Date of Electronic Publication: 2023 Apr 18.
Typ publikacji:
Case Reports
MeSH Terms:
Hypogonadism*/genetics
Hypogonadism*/diagnosis
Kallmann Syndrome*/genetics
Humans ; Phenotype ; Heterozygote ; Penetrance ; Mutation
Raport
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mutation spectrum of Kallmann syndrome: identification of five novel mutations across ANOS1 and FGFR1.
Autorzy:
Chu G; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China.
Li P; Center of Reproductive Medicine, Department of Obstetrics and Gynecology, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China.
Zhao Q; Department of Pediatric Urology, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China.
He R; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China.
Zhao Y; Department of Clinical Genetics, Shengjing Hospital of China Medical University, Shenyang, 110004, Liaoning, China. .
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Źródło:
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2023 Mar 01; Vol. 21 (1), pp. 23. Date of Electronic Publication: 2023 Mar 01.
Typ publikacji:
Journal Article
MeSH Terms:
Kallmann Syndrome*/genetics
Receptor, Fibroblast Growth Factor, Type 1*/genetics
Extracellular Matrix Proteins*/genetics
Nerve Tissue Proteins*/genetics
Humans ; DNA Copy Number Variations ; Exons ; Mutation ; RNA Splice Sites
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A rare case of a 34-year-old patient diagnosed late with Kallmann syndrome: case report.
Autorzy:
Aristiady EB; Department of Radiology, Dr Hasan Sadikin Hospital, Faculty of Medicine, Universitas Padjadjaran Jl. Sederhana no. 39, Pasteur, Sukajadi, Bandung, Jawa Barat, 40161, Indonesia.
Alberta D; Department of Radiology, Dr Hasan Sadikin Hospital, Faculty of Medicine, Universitas Padjadjaran Jl. Sederhana no. 39, Pasteur, Sukajadi, Bandung, Jawa Barat, 40161, Indonesia.
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Źródło:
The Pan African medical journal [Pan Afr Med J] 2022 Oct 10; Vol. 43, pp. 67. Date of Electronic Publication: 2022 Oct 10 (Print Publication: 2022).
Typ publikacji:
Case Reports
MeSH Terms:
Kallmann Syndrome*/diagnosis
Kallmann Syndrome*/drug therapy
Hypogonadism*/diagnosis
Hypogonadism*/etiology
Male ; Humans ; Adult ; Hormone Replacement Therapy/methods
Raport
Pełny tekst  Link otwiera się w nowym oknieSzczegóły
Tytuł:
A rare case of congenital fibrosis of extra ocular muscles with Kallmann syndrome.
Autorzy:
Yenugandula R; Osmania Medical College, Sarojini Devi Eye Hospital, Hyderabad, Telangana, India.
Ramavath SK; Osmania Medical College, Sarojini Devi Eye Hospital, Hyderabad, Telangana, India.
Kishore K; Osmania Medical College, Sarojini Devi Eye Hospital, Hyderabad, Telangana, India.
Qureishi D; Osmania Medical College, Sarojini Devi Eye Hospital, Hyderabad, Telangana, India.
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Źródło:
Indian journal of ophthalmology [Indian J Ophthalmol] 2022 Jul; Vol. 70 (7), pp. 2746-2747.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Kallmann Syndrome*/complications
Kallmann Syndrome*/diagnosis
Kallmann Syndrome*/genetics
Fibrosis ; Humans ; Oculomotor Muscles/pathology
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report.
Autorzy:
Dai J; Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China.
Zeng J; Center for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China.
Tan H; Center for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China.
Cai X; Center for Medical Experiments, University of Chinese Academy of Sciences-Shenzhen Hospital, Shenzhen, China. .
Wu B; Department of Paediatrics, University of Chinese Academy of Sciences-Shenzhen Hospital, Jinan University, Guangzhou, China. .
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Źródło:
BMC medical genomics [BMC Med Genomics] 2022 Jun 06; Vol. 15 (1), pp. 126. Date of Electronic Publication: 2022 Jun 06.
Typ publikacji:
Case Reports; Journal Article; Research Support, Non-U.S. Gov't
MeSH Terms:
Chromosome Disorders*/genetics
Kallmann Syndrome*/genetics
Spherocytosis, Hereditary*/genetics
Chromosome Deletion ; Chromosomes, Human, Pair 22 ; Humans
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A Novel FGFR1 Missense Mutation in a Portuguese Family with Congenital Hypogonadotropic Hypogonadism.
Autorzy:
Fadiga L; Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, 3000-075 Coimbra, Portugal.
Lavrador M; Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, 3000-075 Coimbra, Portugal.
Vicente N; Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, 3000-075 Coimbra, Portugal.
Barros L; Serviço de Endocrinologia, Diabetes e Metabolismo, Centro Hospitalar Universitário de Coimbra, 3000-075 Coimbra, Portugal.
Gonçalves CI; CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
Al-Naama A; Sidra Medicine, Doha P.O. Box 26999, Qatar.
Saraiva LR; Sidra Medicine, Doha P.O. Box 26999, Qatar.
Lemos MC; CICS-UBI, Health Sciences Research Centre, University of Beira Interior, 6200-506 Covilhã, Portugal.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2022 Apr 17; Vol. 23 (8). Date of Electronic Publication: 2022 Apr 17.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Hypogonadism*/genetics
Hypogonadism*/metabolism
Kallmann Syndrome*/genetics
Female ; Humans ; Male ; Mutation ; Mutation, Missense ; Portugal ; Receptor, Fibroblast Growth Factor, Type 1/genetics ; Receptor, Fibroblast Growth Factor, Type 1/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report.
Autorzy:
Tian Q; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China.; Medical School of Yan'an University, Yan'an, 716000, Shaanxi, China.
Tang J; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China.
Wang L; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China.; Medical School of Yan'an University, Yan'an, 716000, Shaanxi, China.
Liu J; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China.; Medical School of Yan'an University, Yan'an, 716000, Shaanxi, China.
Li X; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China.; Medical School of Yan'an University, Yan'an, 716000, Shaanxi, China.
Cao Z; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China.; Medical School of Yan'an University, Yan'an, 716000, Shaanxi, China.
Tian Z; Department of Endocrinology, Xi'an Central Hospital, No. 161 Xiwu Road, Xi'an, 710003, Shaanxi, China. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2023 Oct 05; Vol. 23 (1), pp. 213. Date of Electronic Publication: 2023 Oct 05.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Gonadotropin-Releasing Hormone*/genetics
Hypogonadism*/genetics
Hypogonadism*/diagnosis
Adolescent ; Humans ; Male ; Kallmann Syndrome/genetics ; Mutation ; Testosterone/analysis
SCR Disease Name:
Idiopathic Hypogonadotropic Hypogonadism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
PLXNB1 mutations in the etiology of idiopathic hypogonadotropic hypogonadism.
Autorzy:
Welch BA; Department of Neurobiology and Anatomical Sciences, University of Mississippi Medical Center, Jackson, MS, USA.
Cho HJ; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD, USA.
Ucakturk SA; Division of Pediatric Endocrinology, Ankara Training and Research Hospital, Ankara, Turkey.
Farmer SM; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD, USA.
Cetinkaya S; Division of Pediatric Endocrinology, Dr. Sami Ulus Obstetrics and Gynecology, Pediatric Health and Disease Training and Research Hospital, University of Health Sciences, Ankara, Turkey.
Abaci A; Division of Pediatric Endocrinology, Faculty of Medicine, Dokuz Eylul University, Izmir, Turkey.
Akkus G; Division of Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Simsek E; Division of Pediatric Endocrinology, Faculty of Medicine, Eskisehir Osman Gazi University, Eskisehir, Turkey.
Kotan LD; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Turan I; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Gurbuz F; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Yuksel B; Division of Pediatric Endocrinology, Faculty of Medicine, Cukurova University, Adana, Turkey.
Wray S; Cellular and Developmental Neurobiology Section, National Institute of Neurological Disorders and Stroke/National Institutes of Health, Bethesda, MD, USA.
Topaloglu AK; Department of Neurobiology and Anatomical Sciences, University of Mississippi Medical Center, Jackson, MS, USA.; Division of Pediatric Endocrinology, Department of Pediatrics, University of Mississippi Medical Center, Jackson, MS, USA.
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Źródło:
Journal of neuroendocrinology [J Neuroendocrinol] 2022 Apr; Vol. 34 (4), pp. e13103. Date of Electronic Publication: 2022 Feb 16.
Typ publikacji:
Journal Article; Research Support, Non-U.S. Gov't; Research Support, N.I.H., Intramural
MeSH Terms:
Hypogonadism*/genetics
Kallmann Syndrome*/genetics
Nerve Tissue Proteins/*genetics
Receptors, Cell Surface/*genetics
Animals ; Female ; Gonadotropin-Releasing Hormone/genetics ; Gonadotropin-Releasing Hormone/metabolism ; Humans ; Male ; Mice ; Mutation
SCR Disease Name:
Idiopathic Hypogonadotropic Hypogonadism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
Autorzy:
Xu W; Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Zhou W; Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Lin H; Department of Endocrinology, the Affiliated Wenling Hospital, Wenzhou Medical University, #333, S Chuan'an Road, Wenling, Zhejiang, 317500, China.
Ye D; Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Chen G; Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Dong F; Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China.
Shen J; Department of Endocrinology and Metabolism, First Affiliated Hospital, School of Medicine, Zhejiang University, No.79, Qing-Chun Road, Zhejiang, 310003, Hangzhou, China. .
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Źródło:
BMC endocrine disorders [BMC Endocr Disord] 2021 Sep 25; Vol. 21 (1), pp. 193. Date of Electronic Publication: 2021 Sep 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Mutation, Missense*
DNA Helicases/*genetics
DNA-Binding Proteins/*genetics
Kallmann Syndrome/*genetics
Adult ; China ; DNA Mutational Analysis ; Heterozygote ; Humans ; Hypogonadism/diagnosis ; Hypogonadism/genetics ; Hypogonadism/therapy ; Kallmann Syndrome/complications ; Kallmann Syndrome/diagnosis ; Kallmann Syndrome/therapy ; Magnetic Resonance Imaging ; Male ; Polymorphism, Single Nucleotide ; Puberty, Delayed/diagnosis ; Puberty, Delayed/etiology ; Puberty, Delayed/genetics ; Puberty, Delayed/therapy ; Tomography, X-Ray Computed
SCR Disease Name:
Idiopathic Hypogonadotropic Hypogonadism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Mechanisms of Central Hypogonadism.
Autorzy:
Barber TM; Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, Clifford Bridge Road, Coventry CV2 2DX, UK.; Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry CV2 2DX, UK.
Kyrou I; Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, Clifford Bridge Road, Coventry CV2 2DX, UK.; Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry CV2 2DX, UK.; Aston Medical Research Institute, Aston Medical School, College of Health and Life Sciences, Aston University, Birmingham B4 7ET, UK.; Centre for Sport, Exercise and Life Sciences, Faculty of Health & Life Sciences, Coventry University, Coventry CV2 2DX, UK.
Kaltsas G; National and Kapodistrian University of Athens, 10679 Athens, Greece.
Grossman AB; Green Templeton College, University of Oxford, Oxford OX2 6HG, UK.; Barts and the London School of Medicine, University of London, London E1 2AD, UK.
Randeva HS; Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, Clifford Bridge Road, Coventry CV2 2DX, UK.; Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry CV2 2DX, UK.; Aston Medical Research Institute, Aston Medical School, College of Health and Life Sciences, Aston University, Birmingham B4 7ET, UK.
Weickert MO; Warwickshire Institute for the Study of Diabetes, Endocrinology and Metabolism, University Hospitals Coventry and Warwickshire, Clifford Bridge Road, Coventry CV2 2DX, UK.; Division of Biomedical Sciences, Warwick Medical School, University of Warwick, Coventry CV2 2DX, UK.; Centre for Sport, Exercise and Life Sciences, Faculty of Health & Life Sciences, Coventry University, Coventry CV2 2DX, UK.
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Źródło:
International journal of molecular sciences [Int J Mol Sci] 2021 Jul 30; Vol. 22 (15). Date of Electronic Publication: 2021 Jul 30.
Typ publikacji:
Journal Article; Review
MeSH Terms:
Kallmann Syndrome/*metabolism
Animals ; Gonads/metabolism ; Humans ; Hypothalamo-Hypophyseal System/metabolism ; Kallmann Syndrome/drug therapy ; Kallmann Syndrome/genetics ; Leptin/metabolism ; Prolactin/metabolism
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Identification of two novel mutations in three Chinese families with Kallmann syndrome using whole exome sequencing.
Autorzy:
Zhang Q; Department of Endocrinology, Central South University, Changsha, China.
He HH; Department of Endocrinology, Central South University, Changsha, China.
Janjua MU; Department of Endocrinology, Central South University, Changsha, China.
Wang F; Department of Endocrinology, Central South University, Changsha, China.
Yang YB; Department of Endocrinology, Central South University, Changsha, China.
Mo ZH; Department of Endocrinology, Central South University, Changsha, China.
Liu J; Department of Endocrinology, Central South University, Changsha, China.
Jin P; Department of Endocrinology, Central South University, Changsha, China.
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Źródło:
Andrologia [Andrologia] 2020 Aug; Vol. 52 (7), pp. e13594. Date of Electronic Publication: 2020 May 12.
Typ publikacji:
Journal Article
MeSH Terms:
Hypogonadism*/genetics
Kallmann Syndrome*/genetics
China ; DNA Copy Number Variations ; Humans ; Mutation ; Pedigree ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
A novel heterozygous intron mutation in SEMA7A causing kallmann syndrome in a female.
Autorzy:
Zhao Y; Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, PR China.
Yang F; Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, PR China.
Qiu L; Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, PR China.
Wang L; Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, PR China.; Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China.
Che H; Department of Endocrinology, The Second Affiliated Hospital of Harbin Medical University, Harbin, PR China.; Translational Medicine Research and Cooperation Center of Northern China, Heilongjiang Academy of Medical Sciences, Harbin, China.
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Źródło:
Gynecological endocrinology : the official journal of the International Society of Gynecological Endocrinology [Gynecol Endocrinol] 2020 Mar; Vol. 36 (3), pp. 218-221. Date of Electronic Publication: 2019 Oct 25.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Antigens, CD/*genetics
Kallmann Syndrome/*genetics
Semaphorins/*genetics
Adolescent ; Amenorrhea/etiology ; Anosmia/etiology ; Fathers ; Female ; Follicle Stimulating Hormone/blood ; GPI-Linked Proteins/genetics ; Gonadotropin-Releasing Hormone/therapeutic use ; Heterozygote ; Humans ; Introns ; Kallmann Syndrome/complications ; Kallmann Syndrome/diagnosis ; Kallmann Syndrome/drug therapy ; Luteinizing Hormone/blood ; Magnetic Resonance Imaging ; Mutation ; Olfactory Bulb/diagnostic imaging ; Olfactory Bulb/pathology ; Organ Size ; Pituitary Gland/diagnostic imaging ; Pituitary Gland/pathology ; Pulse Therapy, Drug ; Exome Sequencing
Czasopismo naukowe
Pełny tekst  Link otwiera się w nowym oknie Pełny tekstSzczegóły
Tytuł:
Expanding the mutational spectrum of monogenic hypogonadotropic hypogonadism: novel mutations in ANOS1 and FGFR1 genes.
Autorzy:
Gach A; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 281/289 Rzgowska Street, 93-338, Lodz, Poland. .
Pinkier I; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 281/289 Rzgowska Street, 93-338, Lodz, Poland.
Szarras-Czapnik M; Department of Endocrinology and Diabetology, Children's Memorial Health Institute, Warsaw, Poland.
Sakowicz A; Department of Medical Biotechnology, Medical University of Lodz, Lodz, Poland.
Jakubowski L; Department of Genetics, Polish Mother's Memorial Hospital Research Institute, 281/289 Rzgowska Street, 93-338, Lodz, Poland.
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Źródło:
Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2020 Jan 29; Vol. 18 (1), pp. 8. Date of Electronic Publication: 2020 Jan 29.
Typ publikacji:
Case Reports; Journal Article
MeSH Terms:
Extracellular Matrix Proteins/*genetics
Hypogonadism/*genetics
Kallmann Syndrome/*genetics
Mutation/*genetics
Nerve Tissue Proteins/*genetics
Receptor, Fibroblast Growth Factor, Type 1/*genetics
Adolescent ; Amino Acid Sequence ; Female ; Genetic Variation/genetics ; Humans ; Hypogonadism/diagnosis ; Kallmann Syndrome/diagnosis ; Male
Czasopismo naukowe
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Tytuł:
[Kallmann-de Morsier syndrome: about 3 cases].
Autorzy:
Marhari H; Service d'Endocrinologie, Diabétologie et Nutrition, CHU Hassan II, Fès, Maroc.
Chahdi Ouazzani FZ; Service d'Endocrinologie, Diabétologie et Nutrition, CHU Hassan II, Fès, Maroc.
Ouahabi HE; Service d'Endocrinologie, Diabétologie et Nutrition, CHU Hassan II, Fès, Maroc.; Faculté de Médecine et de Pharmacie de Fès, Université Sidi Mohamed Ben Abdellah, Fès, Maroc.
Bouguenouch L; Faculté de Médecine et de Pharmacie de Fès, Université Sidi Mohamed Ben Abdellah, Fès, Maroc.; Unité de Génétique Médicale et d'Oncogénétique, Laboratoire Centrale d'Analyses Médicales, CHU Hassan II, Fès, Maroc.
Pokaż więcej
Transliterated Title:
Le syndrome de Kallmann-de Morsier: à propos de trois cas.
Źródło:
The Pan African medical journal [Pan Afr Med J] 2019 Jul 18; Vol. 33, pp. 221. Date of Electronic Publication: 2019 Jul 18 (Print Publication: 2019).
Typ publikacji:
Case Reports
MeSH Terms:
Hormone Replacement Therapy/*methods
Kallmann Syndrome/*diagnosis
Adult ; Female ; Gonadotropin-Releasing Hormone/deficiency ; Humans ; Kallmann Syndrome/drug therapy ; Kallmann Syndrome/physiopathology ; Male ; Young Adult
Raport
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Wyświetlanie 1-20 z 1475

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