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1
المؤلفون: Michelle Simon, Matthew Mackenzie, Sare Betul Kaygusuz, Zehra Yavas Abali, Busra Gurpinar Tosun, Hatice Kocak Eker, Nihal Hatipoglu, Sukran Poyrazoglu, Didem Helvacioglu, Mehmet Eltan, Firdevs Bas, Gozde Yesil, Gul Direk, Tuba Seven Menevse, Abdullah Bereket, Andy Greenfield, Lydia Teboul, Dilek Çiçek, Tulay Guran, Richard Reeves, Serap Turan, Nick Warr, Feyza Darendeliler
المصدر: European Journal of Endocrinology
مصطلحات موضوعية: Male, medicine.medical_specialty, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Gonadal dysgenesis, Mice, Transgenic, Context (language use), Biology, Germline, XY gonadal dysgenesis, Consanguinity, Mice, Dysgenesis, Endocrinology, Leucine, Pregnancy, Internal medicine, Serine, medicine, Animals, Humans, Protein Phosphatase 2, Child, Gonadal Dysgenesis, 46,XY, Homozygote, Days post coitum, General Medicine, Embryo, Mammalian, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Mice, Inbred C57BL, Amino Acid Substitution, Knockout mouse, Clinical Study, Female, Luteinizing hormone
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2
المؤلفون: Nathalie Escande-Beillard, Ingo Kennerknecht, Umut Altunoglu, Katta M. Girisha, Shalini S. Nayak, Hülya Azaklı, Anju Shukla, Susanne Ledig, Esra Börklü, Serpil Eraslan, Hülya Kayserili
المصدر: Clinical geneticsREFERENCES. 101(2)
مصطلحات موضوعية: Infertility, Male, Secondary sex characteristic, Disorders of Sex Development, Gonadal dysgenesis, XX gonadal dysgenesis, Biology, Polymorphism, Single Nucleotide, Germline, XY gonadal dysgenesis, Consanguinity, Hypergonadotropic hypogonadism, Genetics, medicine, Humans, Sex organ, Abnormalities, Multiple, Genetic Predisposition to Disease, Protein Phosphatase 2, Genetics (clinical), Genetic Association Studies, Gonadal Dysgenesis, 46,XY, Facies, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Phenotype, Mutation, Female
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3
المؤلفون: Omer Choudry, Sarah Yavelberg, Arun Kashyap, Danitza M. Velazquez
المصدر: NeoReviews. 21:e45-e48
مصطلحات موضوعية: medicine.diagnostic_test, business.industry, Ovary, Infant, Newborn, Vital signs, Physical examination, Hypoglycemia, Jaundice, medicine.disease, Gonadal Dysgenesis, 46,XX, 03 medical and health sciences, Diarrhea, 0302 clinical medicine, Bolus (medicine), 030225 pediatrics, Anesthesia, Pediatrics, Perinatology and Child Health, medicine, Humans, Gestation, Female, Blood culture, 030212 general & internal medicine, medicine.symptom, business
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4
المؤلفون: Mária Judit Molnár, Zoltán Grosz, Gábor Rudas, Jimoh Idris, Anett Illés, Bálint Fekete, Gábor Csukly, Klára Pentelényi, Andor Domonkos, Anikó Gál
المصدر: BMC Medical Genetics, Vol 20, Iss 1, Pp 1-8 (2019)
BMC Medical Geneticsمصطلحات موضوعية: Adult, 0301 basic medicine, Cerebellum, Pathology, medicine.medical_specialty, lcsh:Internal medicine, Ataxia, lcsh:QH426-470, Hearing Loss, Sensorineural, Gonadal dysgenesis, Case Report, Sural nerve, 030105 genetics & heredity, Mitochondrial Proteins, 03 medical and health sciences, Genetics, medicine, Humans, lcsh:RC31-1245, Genetics (clinical), Muscle biopsy, Perrault syndrome, medicine.diagnostic_test, business.industry, Cervical spinal cord atrophy, DNA Helicases, Spastic ataxia, medicine.disease, Magnetic Resonance Imaging, Gonadal Dysgenesis, 46,XX, TWNK, lcsh:Genetics, Phenotype, 030104 developmental biology, medicine.anatomical_structure, nervous system, Mutation, Hyperintense cerebellar signal, Female, Sensorineural hearing loss, medicine.symptom, business, Polyneuropathy
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5
المؤلفون: Amal, Souissi, Mariem, Ben Said, Fakher, Frikha, Ines, Elloumi, Saber, Masmoudi, Andre, Megarbane
المصدر: Genetic testing and molecular biomarkers. 25(8)
مصطلحات موضوعية: Adult, Male, Genotype, Hearing Loss, Sensorineural, Homozygote, Mutation, Missense, High-Throughput Nucleotide Sequencing, Middle Aged, Gonadal Dysgenesis, 46,XX, Pedigree, Amino Acyl-tRNA Synthetases, Phenotype, Mutation, Humans, Female, Genetic Predisposition to Disease, Genetic Association Studies
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6
المؤلفون: Alessandro Rea, Shoujun Gu, Michael Hoa, Sheikh Riazuddin, Asma A. Khan, Rabia Faridi, Raymond T. O'Keefe, Zunaira Munir, Thomas B. Friedman, Cristina Fenollar-Ferrer, Sadaf Naz, William G. Newman
المصدر: Human genetics. 141(3-4)
مصطلحات موضوعية: Male, medicine.medical_specialty, Hearing loss, Hearing Loss, Sensorineural, Cell Cycle Proteins, Biology, Amino Acyl-tRNA Synthetases, Molecular genetics, Genetics, medicine, Humans, Child, Genetics (clinical), Genetic heterogeneity, medicine.disease, Phenotype, Human genetics, Gonadal Dysgenesis, 46,XX, Pedigree, Mutation, Etiology, Sensorineural hearing loss, Female, medicine.symptom, Age of onset
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7
المؤلفون: Sandra Whalen, Juliette Dupont, Sandrine Vuillaumier-Barrot, Chloe Hanna, Gorjana Robevska, Phillipa J. Lamont, Lurdes Sampaio, John Christodoulou, Rocio Rius, Elena J. Tucker, André Travessa, Jocelyn van den Bergen, Andrew H. Sinclair, Arnaud Isapof, Katrina M. Bell, Andrea Simpson, Jérôme Dulon, Sylvie Jaillard, Tanya Stojkovic, Susana Quijano-Roy, David R. Thorburn, Katie L. Ayers, Philippe Touraine
المساهمون: Murdoch Children's Research Institute (MCRI), University of Melbourne, CHU Pontchaillou [Rennes], Institut de recherche en santé, environnement et travail (Irset), Université d'Angers (UA)-Université de Rennes (UR)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique ), Sorbonne Université (SU), Assistance publique - Hôpitaux de Paris (AP-HP) (AP-HP), AP-HP - Hôpital Bichat - Claude Bernard [Paris], Filière Neuromusculaire (FILNEMUS), Université de Versailles Saint-Quentin-en-Yvelines (UVSQ), National Health and Medical Research Council (NHMRC)National Health and Medical Research Council of Australia [1113531], NHMRCNational Health and Medical Research Council of Australia [1074258, 1054432, 1062854, 1155244], CONACYTConsejo Nacional de Ciencia y Tecnologia (CONACyT), Victorian Government's Operational Infrastructure Support Program, Université d'Angers (UA)-Université de Rennes 1 (UR1), Université de Rennes (UNIV-RENNES)-Université de Rennes (UNIV-RENNES)-École des Hautes Études en Santé Publique [EHESP] (EHESP)-Institut National de la Santé et de la Recherche Médicale (INSERM)-Structure Fédérative de Recherche en Biologie et Santé de Rennes ( Biosit : Biologie - Santé - Innovation Technologique )
المصدر: Human Genetics
Human Genetics, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩
Human Genetics, Springer Verlag, 2020, 139 (10), pp.1325-1343. ⟨10.1007/s00439-020-02176-w⟩مصطلحات موضوعية: Adult, Male, Candidate gene, Adolescent, Mitochondrial translation, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Gene Expression, Biology, DNA, Mitochondrial, Amino Acyl-tRNA Synthetases, Mitochondrial Proteins, 03 medical and health sciences, Peroxisomal disorder, Genetics, medicine, Peroxisomes, Farnesyltranstransferase, Humans, Genetic Predisposition to Disease, Child, Genetics (clinical), 030304 developmental biology, 0303 health sciences, Base Sequence, 030305 genetics & heredity, Ovary, High-Throughput Nucleotide Sequencing, Geranyltranstransferase, Endopeptidase Clp, TFAM, medicine.disease, Dimethylallyltranstransferase, Human genetics, Premature ovarian failure, Gonadal Dysgenesis, 46,XX, Pedigree, DNA-Binding Proteins, Protein prenylation, ATPases Associated with Diverse Cellular Activities, Female, PEX6, Transcription Factors
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8
المؤلفون: Joëlle Rudinger-Thirion, Magali Frugier, Lisa G. Riley, Shalini Thirukeswaran, Susan Arbuckle, Thushari I. Alahakoon, Meredith Wilson, David R. Thorburn, Sebastian Lunke, Zornitza Stark, Sirish Palle, Edwin P. Kirk, Cheng Yee Nixon, Tony Roscioli, Alison G. Compton, John Christodoulou, Maie Walsh, Emily Higgs, Klaas J. Wierenga, Melissa Luig
المساهمون: Architecture et Réactivité de l'ARN (ARN), Institut de biologie moléculaire et cellulaire (IBMC), Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Université de Strasbourg (UNISTRA)-Centre National de la Recherche Scientifique (CNRS)-Centre National de la Recherche Scientifique (CNRS)
المصدر: Human Mutation
Human Mutation, Wiley, 2020, 41 (8), pp.1425-1434. ⟨10.1002/humu.24050⟩مصطلحات موضوعية: Adult, Male, Hearing loss, Hearing Loss, Sensorineural, [SDV]Life Sciences [q-bio], Physiology, Gonadal dysgenesis, Biology, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, Mitochondrial myopathy, Sideroblastic anemia, Genetics, medicine, Edema, Humans, [SDV.BBM]Life Sciences [q-bio]/Biochemistry, Molecular Biology, Myopathy, Genetics (clinical), ComputingMilieux_MISCELLANEOUS, 030304 developmental biology, 0303 health sciences, 030305 genetics & heredity, Leukodystrophy, Infant, Mitochondrial Myopathies, [SDV.BBM.BM]Life Sciences [q-bio]/Biochemistry, Molecular Biology/Molecular biology, Middle Aged, medicine.disease, Premature ovarian failure, Anemia, Sideroblastic, Gonadal Dysgenesis, 46,XX, Protein Structure, Tertiary, Phenotype, Lactic acidosis, Acidosis, Lactic, Female, medicine.symptom
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9
المؤلفون: Zihui, Chen, Shaohua, Tang, Huanzheng, Li, Xueqin, Xu, Jianxin, Lyu
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 37(7)
مصطلحات موضوعية: Male, Heterozygote, Pregnancy, Hearing Loss, Sensorineural, Mutation, Humans, Female, Gonadal Dysgenesis, 46,XX, Pedigree
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10
المؤلفون: Marc Abramowicz, Ariane Paoloni-Giacobino, Maria Teresa Carminho-Rodrigues, Michel Guipponi, Nils Guinand, Sacha Laurent, Helene Cao-Van, Phillipe Klee
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol. 21, No 1 (2020) P. 109
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-9 (2020)مصطلحات موضوعية: 0301 basic medicine, Pediatrics, Gonadal dysgenesis, Case Report, Compound heterozygosity, 0302 clinical medicine, Medicine, Missense mutation, ddc:576.5, Génétique, Child, Genetics (clinical), Exome sequencing, ddc:618, LARS2, Disease Management, Gonadal Dysgenesis, 46,XX, Sensorineural hearing loss, Phenotype, Whole-exome sequencing, Female, medicine.symptom, lcsh:Internal medicine, medicine.medical_specialty, lcsh:QH426-470, Genotype, Hearing loss, Hearing Loss, Sensorineural, Genetic counseling, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, Surdité, Genetics, Humans, Genetic Predisposition to Disease, lcsh:RC31-1245, Alleles, Genetic Association Studies, Perrault syndrome, business.industry, Genetic heterogeneity, medicine.disease, ddc:616.8, lcsh:Genetics, 030104 developmental biology, Amino Acid Substitution, Mutation, business, Biomarkers, 030217 neurology & neurosurgery
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11
المؤلفون: Saed Enabi, Dania Al-Jaroudi, Malak Sameer AlThagafi
المصدر: Gynecological Endocrinology. 35:1037-1039
مصطلحات موضوعية: Adult, Infertility, Tarlov cyst, Pathology, medicine.medical_specialty, Hearing Loss, Sensorineural, Endocrinology, Diabetes and Metabolism, Gonadal dysgenesis, Intervertebral Disc Degeneration, Deafness, Amino Acyl-tRNA Synthetases, Endocrinology, Hypergonadotropic hypogonadism, medicine, Humans, Amenorrhea, Exome sequencing, Ultrasonography, business.industry, Hypogonadism, Uterus, Obstetrics and Gynecology, Karyotype, medicine.disease, Magnetic Resonance Imaging, Tarlov Cysts, Gonadal Dysgenesis, 46,XX, Female, Sensorineural hearing loss, medicine.symptom, business, Infertility, Female
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12
المؤلفون: James O'Sullivan, William G. Newman, Maria Zerkaoui, Jill E. Urquhart, Leigh A M Demain, Abdelaziz Sefiani, Karima Amjoud, Ilham Ratbi, Imane Cherkaoui Jaouad
المصدر: Zerkaoui, M, Demain, L A M, Cherkaoui Jaouad, I, Ratbi, I, Amjoud, K, Urquhart, J E, O'Sullivan, J, Newman, W G & Sefiani, A 2017, ' Marfanoid habitus is a nonspecific feature of Perrault syndrome ', Clinical dysmorphology, vol. 26, no. 4, pp. 200-204 . https://doi.org/10.1097/MCD.0000000000000198
مصطلحات موضوعية: Male, 0301 basic medicine, Proband, Pediatrics, medicine.medical_specialty, Adolescent, Genotype, Hearing loss, Hearing Loss, Sensorineural, Genetic counseling, Gonadal dysgenesis, Marfan Syndrome, Pathology and Forensic Medicine, Amino Acyl-tRNA Synthetases, Young Adult, 03 medical and health sciences, symbols.namesake, 0302 clinical medicine, Exome Sequencing, Journal Article, medicine, Humans, Amino Acid Sequence, Genetics (clinical), Exome sequencing, Genetics, Sanger sequencing, Base Sequence, business.industry, Reproducibility of Results, General Medicine, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Phenotype, 030104 developmental biology, Pediatrics, Perinatology and Child Health, symbols, Female, Sensorineural hearing loss, Anatomy, medicine.symptom, business, 030217 neurology & neurosurgery
وصف الملف: application/vnd.openxmlformats-officedocument.wordprocessingml.document
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المؤلفون: Jorge Barudy Vasquez, Amin Makar, Lynn Opdecam, Michael Camerlinck
المصدر: Journal of Obstetrics and Gynaecology. 41:1164-1165
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, 46, XX Disorders of Sex Development, XX gonadal dysgenesis, Gonadal dysgenesis, Congenital Abnormalities, Young Adult, 03 medical and health sciences, 0302 clinical medicine, Hypergonadotropic hypogonadism, Humans, Medicine, Diagnostic Errors, Amenorrhea, Mullerian Ducts, Gynecology, 030219 obstetrics & reproductive medicine, business.industry, Estrogen Replacement Therapy, Obstetrics and Gynecology, medicine.disease, Gonadal Dysgenesis, 46,XX, Müllerian agenesis, Treatment Outcome, 030220 oncology & carcinogenesis, Primary amenorrhoea, Female, business
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14
المؤلفون: Paola Mandich, Paola Origone, Emilia Bellone, Giuseppina Fugazza, Alessandro Geroldi, Federica Morani, Anna Rubegni, Claudia Nesti, Filippo M. Santorelli, Lucia Trevisan, Sabrina Fabbri, Fabio Gotta, Merit Lamp
مصطلحات موضوعية: Adult, Pathology, medicine.medical_specialty, Ataxia, Genetic counseling, Hearing Loss, Sensorineural, DNA Mutational Analysis, Mutation, Missense, Gene mutation, Compound heterozygosity, sensorineural hearing loss, Mitochondrial Proteins, 03 medical and health sciences, Sensory ataxia, Genetics, medicine, Humans, Amino Acid Sequence, Twinkle, Genetics (clinical), 030304 developmental biology, Neuropathy, ovarian dysgenesis, Perrault syndrome, sensorineural hearing loss, Twinkle, TWNK, 0303 health sciences, ovarian dysgenesis, Perrault syndrome, medicine.diagnostic_test, business.industry, neuropathy, TWNK, 030305 genetics & heredity, DNA Helicases, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, Neuropathy, Peripheral neuropathy, Mutation, Sensorineural hearing loss, Female, Pure tone audiometry, medicine.symptom, business
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المؤلفون: Hideshi Kawakami, Hiroyuki Morino, Kodai Kume, Takashi Kurashige, Ryosuke Ohsawa, Yuhei Kanaya, Ryosuke Miyamoto, Yukiko Matsuda, Yui Tada
المصدر: BMC Medical Genetics
BMC Medical Genetics, Vol 21, Iss 1, Pp 1-4 (2020)مصطلحات موضوعية: 0301 basic medicine, Gait Ataxia, Pathology, medicine.medical_specialty, lcsh:Internal medicine, lcsh:QH426-470, Cerebellar Ataxia, Hearing loss, Hearing Loss, Sensorineural, Case Report, Late Onset Disorders, Mitochondrial Proteins, 03 medical and health sciences, Consanguinity, 0302 clinical medicine, Japan, Genetics, medicine, Humans, lcsh:RC31-1245, Hearing Loss, Genetics (clinical), Exome sequencing, Perrault syndrome, Cerebellar ataxia, business.industry, Homozygote, DNA Helicases, Middle Aged, medicine.disease, Gonadal Dysgenesis, 46,XX, Pedigree, TWNK, lcsh:Genetics, 030104 developmental biology, Peripheral neuropathy, Mitochondrial DNA depletion syndrome, Mutation, Sensorineural hearing loss, Cerebellar atrophy, Female, medicine.symptom, business, 030217 neurology & neurosurgery
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المؤلفون: Domínguez-Ruiz, M., García-Martínez, A., Corral-Juan, Marc, Pérez-Álvarez, Á.I., Plasencia, A.M., Villamar, M., Moreno-Pelayo, M.A., Matilla-Dueñas, Antoni, Menéndez-González, M., Del Castillo, I., Universitat Autònoma de Barcelona
المصدر: Journal of Translational Medicine
Journal of Translational Medicine, Vol 17, Iss 1, Pp 1-10 (2019)
Dipòsit Digital de Documents de la UAB
Universitat Autònoma de Barcelona
r-IGTP. Repositorio Institucional de Producción Científica del Instituto de Investigación Germans Trias i Pujol
instnameمصطلحات موضوعية: 0301 basic medicine, Male, lcsh:Medicine, Compound heterozygosity, 0302 clinical medicine, Missense mutation, Genetics, medicine.diagnostic_test, General Medicine, Exons, Bilateral sensorineural hearing impairment, Magnetic Resonance Imaging, Premature ovarian failure, Gonadal Dysgenesis, 46,XX, Pedigree, 030220 oncology & carcinogenesis, Child, Preschool, Spinocerebellar ataxia, Female, medicine.symptom, Mitochondrial DNA helicase, Adult, Heterozygote, Ataxia, Adolescent, Hearing Loss, Sensorineural, Genes, Recessive, General Biochemistry, Genetics and Molecular Biology, Hearing impairment, Mitochondrial Proteins, 03 medical and health sciences, Young Adult, Polyneuropathy, medicine, Humans, Amino Acid Sequence, Genetic testing, Perrault syndrome, Base Sequence, business.industry, Research, Haplotype, lcsh:R, DNA Helicases, medicine.disease, Introns, TWNK, 030104 developmental biology, Mutation, Nervous System Diseases, business, Microsatellite Repeats
وصف الملف: application/pdf
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المؤلفون: Leslie P Molina-Ramírez, Raymond T. O'Keefe, Erica H. Gerkes, Richard J.H. Smith, William G. Newman, Leigh A M Demain
المصدر: J Hum Genet
Journal of human genetics, 65(3), 305-311. Nature Publishing Group
Newman, W, Demain, L, O'Keefe, R & Molina Ramirez, L 2019, ' A recurrent missense variant in HARS2 results in variable sensorineural hearing loss in three unrelated families. ', Journal of Human Genetics . https://doi.org/10.1038/s10038-019-0706-1مصطلحات موضوعية: 0301 basic medicine, Male, Gonadal dysgenesis, TRANSFER-RNA SYNTHETASE, GENE ENCODES, Primary Ovarian Insufficiency, CAUSE OVARIAN DYSGENESIS, Histidine-tRNA Ligase, 0302 clinical medicine, Missense mutation, genetics, Exome, Child, Genetics (clinical), Genetics, education.field_of_study, Homozygote, Gonadal Dysgenesis, 46,XX, Mitochondria, Pedigree, Child, Preschool, Sensorineural hearing loss, Female, medicine.symptom, Heterozygote, Ataxia, Hearing loss, ovarian insufficiency, Hearing Loss, Sensorineural, Population, Mutation, Missense, rare disease, Biology, Article, Amino Acyl-tRNA Synthetases, 03 medical and health sciences, medicine, Humans, Genetic Predisposition to Disease, Allele, education, Alleles, hearing loss, Perrault syndrome, MUTATIONS, PERRAULT SYNDROME, Infant, medicine.disease, 030104 developmental biology, Peripheral neuropathy, 030217 neurology & neurosurgery
وصف الملف: application/pdf
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المؤلفون: Xiaohui, Duan, Wei, Wang, Mingrui, Dong, Lu, Wang, Ziqiang, Shao, Zhaoxia, Wang, Yun, Yuan, Renbin, Wang, Dantao, Peng
المصدر: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics. 36(6)
مصطلحات موضوعية: Hearing Loss, Sensorineural, Humans, Female, Genetic Testing, Child, Gonadal Dysgenesis, 46,XX, Pedigree
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19
المؤلفون: Santosh Kumar Jha, Rosina Manandhar, Veena Rani Shrivastava
المصدر: Journal of Nepal Medical Association, Vol 57, Iss 216 (2019)
مصطلحات موضوعية: endocrine system, medicine.medical_specialty, 46, XX Disorders of Sex Development, Karyotype, Uterus, Gonadal dysgenesis, Mayer Rokitansky Kuster Hauser syndrome, Mullerian agenesis, primary amenorrhea, 46,XX, Congenital Abnormalities, Young Adult, Hypergonadotropic hypogonadism, medicine, Humans, Endocrine system, Mayer-Rokitansky-Kuster-Hauser Syndrome, Amenorrhea, Mullerian Ducts, Gynecology, lcsh:R5-920, business.industry, General Medicine, medicine.disease, Gonadal Dysgenesis, 46,XX, Müllerian agenesis, medicine.anatomical_structure, Vagina, Female, lcsh:Medicine (General), business
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20
المؤلفون: Muhammad Naeem, Fatma Dursun, Heves Kırmızıbekmez, Noreen Karim, Hussein Sheikh Ali Mohamoud, Musharraf Jelani
المصدر: Journal of Clinical Research in Pediatric Endocrinology
مصطلحات موضوعية: Male, 0301 basic medicine, Delayed puberty, Candidate gene, CLPP, Adolescent, Genotype, Turkey, Hearing loss, Hearing Loss, Sensorineural, Endocrinology, Diabetes and Metabolism, Mutation, Missense, Gonadal dysgenesis, Case Report, Bioinformatics, Secondary amenorrhea, Polymorphism, Single Nucleotide, Young Adult, 03 medical and health sciences, Endocrinology, Humans, Medicine, Missense mutation, Genetic Predisposition to Disease, Family Health, Genetics, Perrault syndrome, Genome, Human, business.industry, Female infertility, Chromosome Mapping, Endopeptidase Clp, Sequence Analysis, DNA, Disease gene identification, medicine.disease, Gonadal Dysgenesis, 46,XX, Premature ovarian failure, 030104 developmental biology, Pediatrics, Perinatology and Child Health, Female, medicine.symptom, business, Chromosomes, Human, Pair 19