Suchergebnisse - "Hereditary/pathology"

Chemical chaperone 4-phenylbutyrate treatment alleviates the kidney phenotype in a mouse model of Alport syndrome with a pathogenic variant in Col4a3

Autoren: Ioannou, Pavlos Odiatis, Christoforos Hadjisavva, Rania et al.

Quelle: Kidney International. 108:609-625

Schlagwörter: Male, Taurochenodeoxycholic Acid / therapeutic use, Nephritis, Hereditary / drug therapy, Mice, Podocytes / metabolism, Collagen Type IV / metabolism, Animals, Humans, Gene Knock-In Techniques, Cells, Cultured, Mice, Knockout, Phenylbutyrates / pharmacology, Nephritis, Hereditary / genetics, Autoantigens / genetics, Nephritis, Hereditary / pathology, Taurochenodeoxycholic Acid / pharmacology, Glomerular Basement Membrane / drug effects, Phenylbutyrates / therapeutic use, Autoantigens / metabolism, Collagen Type IV / genetics, Disease Models, Animal, Phenotype, Podocytes / pathology, Mutation, Glomerular Basement Membrane / pathology, Glomerular Basement Membrane / ultrastructure, Podocytes / drug effects

Dateibeschreibung: application/pdf

An MRI evaluation of white matter involvement in paradigmatic forms of spastic ataxia: results from the multi-center PROSPAX study

Autoren: Scaravilli, Alessandra Gabusi, Ilaria Mari, Gaia et al.

Quelle: J Neurol
Journal of neurology 271(8), 5468-5477 (2024). doi:10.1007/s00415-024-12505-y
Journal of Neurology, 271, 8, pp. 5468-5477

Schlagwörter: Adult, Male, pathology [Spinocerebellar Ataxias], pathology [Spastic Paraplegia, Hereditary], diagnostic imaging [Spinocerebellar Ataxias], Medizin, diagnostic imaging [White Matter], SPG7, Optic Atrophy [MeSH], Ataxia, Aged [MeSH], Spinocerebellar Ataxias/pathology [MeSH], Muscle Spasticity/pathology [MeSH], Magnetic Resonance Imaging [MeSH], Male [MeSH], White Matter/diagnostic imaging [MeSH], Spinocerebellar Ataxias/congenital [MeSH], Magnetic resonance imaging, Spinocerebellar Ataxias/diagnostic imaging [MeSH], Muscle Spasticity/diagnostic imaging [MeSH], White Matter/pathology [MeSH], Diffusion tensor imaging, Female [MeSH], Brain/pathology [MeSH], Spastic Paraplegia, Hereditary/diagnostic imaging [MeSH], Brain/diagnostic imaging [MeSH], Adult [MeSH], Humans [MeSH], Spastic Paraplegia, Hereditary/pathology [MeSH], Prospective Studies [MeSH], Middle Aged [MeSH], ARSACS, Young Adult [MeSH], Diffusion Magnetic Resonance Imaging [MeSH], Intellectual Disability [MeSH], Original Communication, Young Adult, pathology [Brain], pathology [White Matter], Intellectual Disability, congenital [Spinocerebellar Ataxias], Spinocerebellar Ataxias, Humans, ddc:610, Prospective Studies, diagnostic imaging [Brain], Aged, diagnostic imaging [Spastic Paraplegia, Hereditary], Neurology - Radboud University Medical Center - DCMN, Spastic Paraplegia, Hereditary, diagnostic imaging [Muscle Spasticity], Brain, Middle Aged, White Matter, Magnetic Resonance Imaging, 3. Good health, Optic Atrophy, Diffusion Magnetic Resonance Imaging, Muscle Spasticity, Female, pathology [Muscle Spasticity]

Dateibeschreibung: application/pdf

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38880819
https://hdl.handle.net/https://repository.ubn.ru.nl/handle/2066/309526
https://hdl.handle.net/11588/990825
https://repository.ubn.ru.nl//bitstream/handle/2066/309526/309526.pdf
https://hdl.handle.net/2066/309526
https://repository.publisso.de/resource/frl:6518857
https://www.ncbi.nlm.nih.gov/pubmed/38880819
https://doi.org/10.1007/s00415-024-12505-y
https://www.scopus.com/inward/record.url?partnerID=HzOxMe3b&origin=inward&scp=85196172188

Thrombocytopenias and thrombocytopathies distinguishing features in Morocco while typological aspects taking into consideration

Autoren: Maatof, O. Mustafa, H. Bourtal, Y. et al.

Schlagwörter: thrombocytes, platelets, morphological-functional thrombocytic indices, platelets’ structural-functional peculiarities, thrombocytes pathology, platelets pathology, primary/hereditary pathology, secondary/acquired pathology, thrombocytes quantitative changes, thrombocytes qualitative changes, platelets quantitative changes, platelets qualitative changes, thrombocytopenias, thrombocytopathies, Willebrand disease, megakaryocytopoieis, megakaryocytopoiesis disturbances, congenital amegakaryocytic thrombocytopenia, integrins, integrin receptors, platelets integrin receptors anomalies, constitutional thrombocytopeny, idiopathic thrombocytopeny, immune thrombocytopeny, Glanzmann thrombasthenia, typological aspects, ethnic typological aspect, ethnic- gender typological aspect, ethnic-age typological aspect, ethnic-gender-age typological aspect

Dateibeschreibung: application/pdf

Relation: Thrombocytopenias and thrombocytopathies distinguishing features in Morocco while typological aspects taking into consideration / O. Maatof, H. Mustafa, Y. Bourtal, Y. Assali, O. Tkachenko // Materials of the XXII Student Scientific Conference with International Participation «First Step into Science – 2025», 17–18.04.2025, VNMU. – Vinnitsa, 2025. – P. 153–154.; https://repository.pdmu.edu.ua/handle/123456789/26641

Verfügbarkeit: https://repository.pdmu.edu.ua/handle/123456789/26641

Вirth rate in families burdened with hereditary pathology ; Рождаемость в семьях, отягощенных наследственной патологией

Autoren: G. I. Еl’chinоvа Yu. А. Rеvаzоvа R. А. Zinchеnkо et al.

Weitere Verfasser: G. I. Еl’chinоvа Yu. А. Rеvаzоvа R. А. Zinchеnkо et al.

Quelle: Medical Genetics; Том 24, № 1 (2025); 51-54 ; Медицинская генетика; Том 24, № 1 (2025); 51-54 ; 2073-7998

Schlagwörter: отягощенность наследственной патологией, load of hereditary pathology

Dateibeschreibung: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/2604/1847; Поплаухин В.Е., Латов Ю.В. Смена моделей воспроизводства населения в России ХХ в. Историко-экономические исследования. 2009;10(2):63-99.; Лунева И.С., Иванова О.Ю., Хардиков А.В., Абросимова Н.В. Факторы, влияющие на рождаемость в современной России. Российский вестник акушера-гинеколога. 2019;19(2):14-20. Doi.org/10.17116/rosakush20191902114; Аббасов Р.С., Лябах А.Ю., Саберова Е.В. Социологическое исследование проблемы рождаемости в современной России. ГосРег: государственное регулирование общественных отношений. 2020; 33(3):198-211.; Мамедова Р.А., Гинтер Е.К., Мошкина И.С. и др. Наследственная аутосомно-рецессивная патология и ее связь с инбридингом в республике Марий Эл. Казанский медицинский журнал. 1996;77(4): 241-243.; Хисамова М.В. Сравнительное изучение отягощенности наследственной патологией городского и окружающего его сельского населения. Дисс. … канд. мед. наук. М., ИМГ, 1988; Rizvi S.H.M., Burzarbarua P.M. Inbreeding among Indian Muslims: a casestudy of Garia of Assam, India. Anthropologie. 1993;31(3): 115-117.; Stoll C., Alembik Y., Dott B., Feingold J. Parental consanquinity as a couse of increased incidence of birth defects in a study of 131,760 consecutive burth. Amer.J.Med.Genet. 1994; 49(1): 114-117.; Rao N.A. Genetic consequences of inbreeding in a large human population. Proc. Indian Nat. Sci. Acad. B. 1991; 57(6): 361-368.; Bittles A.H. Inbreeding in human population and its influence on fertility and health. J.Biol.Educ. 1993; 27(4): 260-266.; Спицына Н.Х. Демографический переход в России. М.: Наука. 2006. 212 с.; Бессонова Л.А., Ельчинова Г.И., Зинченко Р.А. Популяционная генетика наследственных болезней среди детского населения республик Башкортостан, Чувашия и Удмуртия. Генетика.2012;48(5):644-654.; Zinchenko R.A., Makaov A.Kh., Marakhonov A.V. et al. Epidemiology of hereditary diseases in Karachay-Cherkess Republic. International Journal of Molecular Sciences Int. J. Mol. Sci. 2020; 21(1): 325. https://doi.org/10.3390/ijms21010325; Зинченко Р.А., Куцев С.И., Александрова О.Ю., Гинтер Е.К. Основные методологические подходы к выявлению и диагностике моногенных наследственных заболеваний и проблемы в организации медицинской помощи и единых профилактических программ. Проблемы социальной гигиены, здравоохранения и истории медицины. 2019;27(5): 865-877. DOI: http://dx.doi.org/10.32687/0869-866X-2019-27-5-865-877; Ельчинова Г.И., Зинченко Р.А., Осипова Е.В. Методы обработки популяционно-генетических данных: демографические анкеты. Медицинская генетика. 2004; 3(7):313-320.; Закс Л. Статистическое оценивание. М.: Статистика. 1976. 291 c.

Verfügbarkeit: https://www.medgen-journal.ru/jour/article/view/2604
https://doi.org/10.25557/2073-7998.2025.01.51-54

Neuroinflammatory disease signatures in SPG11-related hereditary spastic paraplegia patients

Autoren: Laura Krumm Tatyana Pozner Naime Zagha et al.

Quelle: Acta Neuropathol
Acta neuropathologica

Schlagwörter: Autosomal-recessive hereditary spastic paraplegia, Mutation [MeSH], Disease-associated microglia, Humans [MeSH], Inflammation, Spastic Paraplegia, Hereditary/pathology [MeSH], Animals [MeSH], IFNγ/ STAT1 signaling, Spastic Paraplegia, Hereditary/genetics [MeSH], Multisystem neurodegeneration, Neuroinflammatory Diseases [MeSH], Mice [MeSH], Proteins/genetics [MeSH], Original Paper, Neurons/pathology [MeSH], Induced microglia-like cells, Neurons, 0301 basic medicine, 0303 health sciences, Spastic Paraplegia, Hereditary, Proteins, 3. Good health, Mice, 03 medical and health sciences, Neuroinflammatory Diseases, Mutation, Animals, Humans, Human medicine

Zugangs-URL: https://pubmed.ncbi.nlm.nih.gov/38305941
https://hdl.handle.net/10067/2038820151162165141
https://repository.uantwerpen.be/docstore/d:irua:22333
https://repository.publisso.de/resource/frl:6519667

SYNDROMAL APPROACH IN THE DIAGNOSIS OF HEREDITARY DISEASES (LECTURE)

Autoren: Elena A. Tkachuk Igor Zh. Seminsky

Quelle: Байкальский медицинский журнал, Vol 2, Iss 4, Pp 85-94 (2023)

Schlagwörter: Medicine (General), R5-920, syndromic diagnosis, hereditary pathology, minor and major developmental anomalies

Zugangs-URL: https://doaj.org/article/60ed665c1c9e45c494786b59d765d7e9

Clinical and Laboratory Markers of Hereditary Metabolic Diseases in Children of the First Half of Life

Autoren: N. N. Martynovich N. E. Globenko S. N. Kuznetsova

Quelle: Acta Biomedica Scientifica, Vol 5, Iss 4, Pp 73-78 (2020)

Schlagwörter: 03 medical and health sciences, 0302 clinical medicine, Science, tandem mass spectrometry, hereditary pathology, hereditary metabolic diseases, children of the first half of life, 3. Good health

Zugangs-URL: https://www.actabiomedica.ru/jour/article/download/2395/2053
https://doaj.org/article/76368ee80dd44a7ab508ea7c2397d405
https://www.actabiomedica.ru/jour/article/download/2395/2053
https://www.actabiomedica.ru/jour/article/view/2395/2053

Precancerous lesions of the stomach, gastric cancer and hereditary gastric cancer syndromes

Autoren: Gullo, Irene Grillo, Federica Mastracci, Luca et al.

Weitere Verfasser: Gullo, Irene Grillo, Federica Mastracci, Luca et al.

Quelle: Pathologica

Schlagwörter: gastric adenocarcinoma, gastric cancer, gastric dysplasia, hereditary diffuse gastric cancer (HDGC), hereditary gastric cancer syndromes, Gastric dysplasia, Stomach Neoplasms / diagnosis, Review, Hereditary gastric cancer syndromes, Adenocarcinoma, Neoplastic Syndromes, Hereditary / genetics, 03 medical and health sciences, 0302 clinical medicine, Neoplastic Syndromes, Hereditary, Stomach Neoplasms, Hereditary diffuse gastric cancer (HDGC), Neoplastic Syndromes, Hereditary / pathology, Stomach Neoplasms / epidemiology, Humans, Genetic Predisposition to Disease, Stomach Neoplasms / genetics, Gastric adenocarcinoma, Neoplastic Syndromes, Hereditary / epidemiology, Incidence, Stomach, Prognosis, 3. Good health, Neoplastic Syndromes, Hereditary / diagnosis, Stomach / pathology, Gastric cancer, Stomach Neoplasms / pathology, Precancerous Conditions

Dateibeschreibung: application/pdf

Zugangs-URL: https://www.pathologica.it/article/download/166/169
https://pubmed.ncbi.nlm.nih.gov/33179620
https://www.pathologica.it/article/download/166/169
https://pubmed.ncbi.nlm.nih.gov/33179620/
https://www.pathologica.it/article/view/166
https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7931572
https://europepmc.org/article/MED/33179620
https://moh-it.pure.elsevier.com/en/publications/precancerous-lesions-of-the-stomach-gastric-cancer-and-hereditary
https://hdl.handle.net/10216/145232

Current approaches to the diagnosis and treatment of lysosomal acid lipase deficiency ; Современные подходы к диагностике и лечению детей с дефицитом лизосомной кислой липазы

Autoren: I. S. Tebieva F. V. Bazrova Yu. V. Gabisova et al.

Quelle: Rossiyskiy Vestnik Perinatologii i Pediatrii (Russian Bulletin of Perinatology and Pediatrics); Том 68, № 1 (2023); 105-109 ; Российский вестник перинатологии и педиатрии; Том 68, № 1 (2023); 105-109 ; 2500-2228 ; 1027-4065

Schlagwörter: наследственная патология, lysosomal acid lipase, liver dysfunction, hereditary pathology, лизосомальная кислая липаза, нарушение функций печени

Dateibeschreibung: application/pdf

Relation: https://www.ped-perinatology.ru/jour/article/view/1782/1348; Баранов А.А., Намазова-Баранова Л.С., Гундобина О.С., Михайлова С.В., Захарова Е.Ю., Вишнева Е.А. и др. Дефицит лизосомной кислой липазы: клинические рекомендации по оказанию медицинской помощи детям. Педиатрическая фармакология 2016; 13(3): 239–243. DOI:10.15690/pf.v13i3.1573; Дегтярева А.В., Пучкова А.А., Жданова С.И., Дегтярев Д.Н. Болезнь Вольмана — тяжелая младенческая форма дефицита лизосомной кислой липазы. Неонатология: Новости. Мнения. Обучение 2019; 7(2): 42–51. DOI:10.24411/2308–2402–2019–12003; Bernstein D.L., Hülkova Н., Bialer M.G., Desnick R.J. Cholesteryl ester storage disease: review of the findings in 135 reported patients with an underdiagnosed disease. J Hepatol 2013; 58 (6): 1230–1243. DOI:10.1016/j.jhep.2013.02.014; Aguisanda F., Thorne N., Zheng W. Targeting Wolman Disease and Cholesteryl Ester Storage Disease: Disease Pathogenesis and Therapeutic Development. Cur Chem Genom Translat Med 2017; 11: 1–18. DOI:10.2174/2213988501711010001; Valayannopoulos V., Mengel E., Brassier A., Grabowski G. Lysosomal acid lipase deficiency: Expanding differential diagnosis. Mol Genet Metabol 2016; 120(1–2): 62–66. DOI:10.1016/j.ymgme.2016.11.002; Каменец Е.А., Печатникова Н.Л., Какаулина В.С., Михайлова С.В., Строкова Т.В., Жаркова М.С. и др. Дефицит лизосомной кислой липазы у российских больных: молекулярная характеристика и эпидемиология. Медицинская Генетикаеыштылфнф2019; 18(8): 3–16. DOI:10.25557/2073–7998.2019.08.3–16; Pisciotta L., Fresa R., Bellocchio A., Pino E., Guido V., Cantafora A. Cholesteryl esterstorage disease (CESD) due to novel mutations in the LIPA gene. Mol Genet Metabol 2009; 97 (2): 143–148. DOI:10.1016/j.ymgme.2009.02.007; Reiner Z., Guardamagna O., Nair D., Soran H., Hovingh K., Bertolini S. Lysosomal acid lipase deficiency — an under-recognized cause of dyslipidaemia and liver dysfunction. Atherosclerosis 2014; 235: 21–30. DOI:10.1016/j.atherosclerosis.2014.04.003; Wagner K.H., Shiels R.G., Llang C.A. Khoei N.S., Bulmer A.C. Diagnostic criteria and contributors to Gilbert’s syndrome. Crit Rev Clin Lab Sci 2018; 55(2): 129–139. DOI:10.1080/10408363.2018.1428526

Verfügbarkeit: https://www.ped-perinatology.ru/jour/article/view/1782
https://doi.org/10.21508/1027-4065-2023-68-1-105-109

Spontaneous involution of autologous lenses and phacoanaphylaxis reaction in Stickler syndrome.

Autoren: Habil, I. Cohen, E. Karshai, I. et al.

Schlagwörter: Anaphylaxis/pathology, Child, Eye Diseases, Hereditary/pathology, Female, Humans, Lens Diseases/pathology, Lens, Crystalline/immunology, Syndrome

Dateibeschreibung: application/pdf

Relation: British Journal of Ophthalmology; https://iris.unil.ch/handle/iris/50616; serval:BIB_4F4472B6014C; 000232652000039

Verfügbarkeit: https://iris.unil.ch/handle/iris/50616
https://doi.org/10.1136/bjo.2005.076935

BIGH3 mutation spectrum in corneal dystrophies.

Autoren: Munier, F.L. Frueh, B.E. Othenin-Girard, P. et al.

Schlagwörter: Amino Acid Sequence, Chromosomes, Human, Pair 5/genetics, Corneal Dystrophies, Hereditary/genetics, Hereditary/pathology, DNA Mutational Analysis, DNA Primers/chemistry, Extracellular Matrix Proteins, Genotype, Humans, Linkage (Genetics), Molecular Sequence Data, Mutation, Neoplasm Proteins/genetics, Phenotype, Polymorphism, Single-Stranded Conformational, Transforming Growth Factor beta/genetics

Relation: Investigative Ophthalmology and Visual Science; 0146-0404[print], 0146-0404[linking]; https://iris.unil.ch/handle/iris/250258; serval:BIB_EAC5576BC35D; 000174700900007

Verfügbarkeit: https://iris.unil.ch/handle/iris/250258

Amyloid Precursor-Like Protein 2 deletion-induced retinal synaptopathy related to congenital stationary night blindness: structural, functional and molecular characteristics.

Autoren: Dinet, V. Ciccotosto, G.D. Delaunay, K. et al.

Schlagwörter: Aging/pathology, Amacrine Cells/metabolism, Amyloid beta-Protein Precursor/chemistry, Amyloid beta-Protein Precursor/deficiency, Amyloid beta-Protein Precursor/genetics, Amyloid beta-Protein Precursor/metabolism, Animals, Newborn, Cell Differentiation, Complement System Proteins/metabolism, Dendrites/metabolism, Eye Diseases, Hereditary/genetics, Hereditary/pathology, Hereditary/physiopathology, Gene Deletion, Genetic Diseases, X-Linked/genetics, X-Linked/pathology, X-Linked/physiopathology, Mice, Inbred C57BL, Knockout, Myopia/genetics, Myopia/pathology, Myopia/physiopathology, Neurogenesis, Night Blindness/genetics, Night Blindness/pathology, Night Blindness/physiopathology

Dateibeschreibung: application/pdf

Relation: Molecular Brain; https://iris.unil.ch/handle/iris/158437; serval:BIB_8DB27D0809EA; 000377189700001

Verfügbarkeit: https://iris.unil.ch/handle/iris/158437
https://doi.org/10.1186/s13041-016-0245-z

Granular type I corneal dystrophy in a large consanguineous Tunisian family with homozygous p.R124S mutation in the TGFBI gene.

Autoren: Bouyacoub, Y. Falfoul, Y. Ouederni, M. et al.

Schlagwörter: Adolescent, Adult, Amino Acid Sequence, Child, Consanguinity, Corneal Dystrophies, Hereditary/genetics, Hereditary/pathology, DNA Mutational Analysis, Extracellular Matrix Proteins/chemistry, Extracellular Matrix Proteins/genetics, Female, Follow-Up Studies, Genetic Association Studies, Homozygote, Humans, Male, Middle Aged, Models, Molecular, Mutation, Pedigree, Phenotype, Prognosis, Protein Conformation, Transforming Growth Factor beta/chemistry, Transforming Growth Factor beta/genetics, Young Adult, gene, Granular corneal dystrophy type I

Relation: Ophthalmic Genetics; https://iris.unil.ch/handle/iris/140754; serval:BIB_B99FE7DB25FB; 000477243200001

Verfügbarkeit: https://iris.unil.ch/handle/iris/140754
https://doi.org/10.1080/13816810.2019.1639202

Primary gelatinous drop-like corneal dystrophy in a white woman. A pathologic, ultrastructural, and immunohistochemical study

Autoren: Buchi, E. R. Daicker, B. Uffer, S. et al.

Schlagwörter: Adult Amyloidosis/*pathology Corneal Diseases/*pathology Corneal Dystrophies, Hereditary/*pathology Female Follow-Up Studies Humans Keratoplasty, Penetrating Longitudinal Studies Reoperation

Relation: Cornea: The Journal of Cornea and External Disease; https://iris.unil.ch/handle/iris/125925; serval:BIB_16D7F0EC2001; A1994MY12900014; 8156793

Verfügbarkeit: https://iris.unil.ch/handle/iris/125925

TGFBI (BIGH3) gene mutations in German families: two novel mutations associated with unique clinical and histopathological findings.

Autoren: Gruenauer-Kloevekorn, C. Clausen, I. Weidle, E. et al.

Schlagwörter: Adult, Age Factors, Corneal Dystrophies, Hereditary/genetics, Hereditary/pathology, DNA Mutational Analysis, Extracellular Matrix Proteins/genetics, Female, Genetic Predisposition to Disease/genetics, Humans, Male, Mutation/genetics, Pedigree, Phenotype, Transforming Growth Factor beta/genetics, Visual Acuity/genetics, Young Adult

Relation: British journal of ophthalmology; 1468-2079[electronic]; https://iris.unil.ch/handle/iris/108740; serval:BIB_234ECB2DAECE; 000267341900020

Verfügbarkeit: https://iris.unil.ch/handle/iris/108740
https://doi.org/10.1136/bjo.2008.142927

Genotype-phenotype correlations of TGFBI p.Leu509Pro, p.Leu509Arg, p.Val613Gly, and the allelic association of p.Met502Val-p.Arg555Gln mutations.

Autoren: Niel-Butschi, F. Kantelip, B. Iwaszkiewicz, J. et al.

Schlagwörter: Adult, Aged, 80 and over, Algeria/ethnology, Alleles, Amino Acid Sequence, Bowman Membrane/metabolism, Bowman Membrane/pathology, Corneal Dystrophies, Hereditary/classification, Hereditary/epidemiology, Hereditary/ethnology, Hereditary/genetics, Hereditary/pathology, Extracellular Matrix Proteins/genetics, Extracellular Matrix Proteins/metabolism, Female, France/epidemiology, Gene Frequency, Genetic Association Studies, Genetic Linkage, Genotype, Humans, Infant, Male, Middle Aged, Models, Molecular, Molecular Sequence Data, Mutation

Dateibeschreibung: application/pdf

Relation: Molecular vision; https://iris.unil.ch/handle/iris/56915; serval:BIB_03FE1E0DA8A2; 000290295300001

Verfügbarkeit: https://iris.unil.ch/handle/iris/56915

Frail inner limiting membrane maculopathy suggested to describe a new retinal Alport-like condition with two variants in three generations of females.

Autoren: Petersen, S.D. Belmouhand, M. Hertz, J.M. et al.

Schlagwörter: Humans, Female, Nephritis, Hereditary/genetics, Hereditary/diagnosis, Hereditary/pathology, Pedigree, Tomography, Optical Coherence, Adult, Middle Aged, Visual Acuity/physiology, Collagen Type IV/genetics, Retinal Diseases/genetics, Retinal Diseases/diagnosis, Phenotype, Alport syndrome, dissociated nerve fibre layer, flat temporal maculae, frail inner limiting membrane maculopathy, inner limiting membrane, optical coherence tomography, petaloid maculopathy

Relation: Ophthalmic Genetics; https://iris.unil.ch/handle/iris/235287; serval:BIB_F0506D71C273; 001140033000001

Verfügbarkeit: https://iris.unil.ch/handle/iris/235287
https://doi.org/10.1080/13816810.2023.2294844

Study of the features of the diversity of hereditary diseases in some populations of the North Caucasus

Quelle: Nauchno-prakticheskii zhurnal «Medicinskaia genetika». :24-46

Schlagwörter: накопление, genetic epidemiology, load and diversity of hereditary pathology, груз и разнообразие наследственной патологии, prevalence of nosological forms, Республика Карачаево-Черкессия, распространенность нозологических форм, accumulation, Karachay-Cherkess Republic, 3. Good health, генетическая эпидемиология

Zugangs-URL: https://www.medgen-journal.ru/jour/article/download/680/415
https://www.medgen-journal.ru/jour/article/download/680/415
https://www.medgen-journal.ru/jour/article/view/680

Feline Polycystic Kidney Disease: An Update

Autoren: Lorie Schirrer Pablo Jesús Marín-García Lola Llobat

Quelle: Veterinary Sciences, Vol 8, Iss 269, p 269 (2021)

Schlagwörter: cat, control disease, feline polycystic kidney disease, hereditary pathology, Veterinary medicine, SF600-1100

Relation: https://www.mdpi.com/2306-7381/8/11/269; https://doaj.org/toc/2306-7381; https://doaj.org/article/c666515ddc784a27901c6d1a73c634f6

Verfügbarkeit: https://doi.org/10.3390/vetsci8110269
https://doaj.org/article/c666515ddc784a27901c6d1a73c634f6

Results of the work of the geneticist's office of the Medical Genetic Consultation of the Astrakhan Region for the period 2017-2019 ; Результаты работы кабинета консультативного приема генетика Медико-генетической консультации Астраханской области за период 2017-2019 гг

Autoren: O. P. Nikolaeva S. V. Ripp V. N. Gryaschenko et al.

Quelle: Medical Genetics; Том 19, № 8 (2020); 19-20 ; Медицинская генетика; Том 19, № 8 (2020); 19-20 ; 2073-7998

Schlagwörter: врожденные пороки развития, hereditary pathology, congenital malformations, наследственная патология

Dateibeschreibung: application/pdf

Relation: https://www.medgen-journal.ru/jour/article/view/1664/1300

Verfügbarkeit: https://www.medgen-journal.ru/jour/article/view/1664