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1. Full Text Genetics of primary ovarian insufficiency
by Rossetti, R and Ferrari, I and Bonomi, M and Persani, L
Clinical genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 183 - 198
folliculogenesis | ovary | genetics | oocyte | menopause | premature ovarian insufficiency | premature ovarian failure | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ovary - pathology | Genes, X-Linked - genetics | Gonadal Dysgenesis - genetics | Primary Ovarian Insufficiency - pathology | Humans | Menopause - genetics | Amenorrhea - genetics | Amenorrhea - pathology | Primary Ovarian Insufficiency - genetics | Genetic Diseases, X-Linked - pathology | Adult | Female | Genetic Diseases, X-Linked - genetics | Gonadal Dysgenesis - pathology | Ovary - metabolism | Amenorrhea | Genetics | Hormone replacement therapy | Age | Index Medicus
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2. Full Text Genetics of primary ovarian insufficiency: New developments and opportunities
by Qin, Yingying and Jiao, Xue and Simpson, Joe Leigh and Chen, Zi-Jiang
Human reproduction update, ISSN 1355-4786, 11/2015, Volume 21, Issue 6, pp. 787 - 808
Genome-wide association studies | Gene mutation | Premature ovarian failure | Whole-exome sequencing | Primary ovarian insufficiency | Chromosomal abnormality | Next generation sequencing | Life Sciences & Biomedicine | Obstetrics & Gynecology | Reproductive Biology | Science & Technology | Exome | Genetic Variation | Genome-Wide Association Study | Genomics | Humans | Karyotyping | Chromosome Aberrations | Primary Ovarian Insufficiency - genetics | Female | Mosaicism | Gene Regulatory Networks | Index Medicus | Reviews | gene mutation | next generation sequencing | chromosomal abnormality | primary ovarian insufficiency | premature ovarian failure | genome-wide association studies | whole-exome sequencing
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3. Full Text BMP15 “knockout‐like” effect in familial premature ovarian insufficiency with persistent ovarian reserve
by Mayer, A and Fouquet, B and Pugeat, M and Misrahi, M
Clinical genetics, ISSN 0009-9163, 08/2017, Volume 92, Issue 2, pp. 208 - 212
knockout | mutation | haploinsufficiency | premature ovarian insufficiency | deletion | gene | fertility preservation | male | BMP15 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Ovarian Reserve - genetics | Amenorrhea - physiopathology | Genetic Predisposition to Disease | Ovarian Follicle - growth & development | Humans | Primary Ovarian Insufficiency - complications | Amenorrhea - genetics | Gene Knockout Techniques | Ovarian Reserve - physiology | Bone Morphogenetic Protein 15 - genetics | Primary Ovarian Insufficiency - genetics | Adult | Female | Heterozygote | Primary Ovarian Insufficiency - physiopathology | Ovarian Follicle - pathology | Amenorrhea - complications | Codon, Nonsense - genetics | Sequence Deletion - genetics | Bone morphogenetic proteins | Genetic aspects | Gene dosage | Fertility | Amenorrhea | Insertion | Mutation | Ovaries | Codons | Gene deletion | Follicles | Genetic counselling | Ultrasound | Haploinsufficiency | Index Medicus | Life Sciences
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4. Full Text Clinical practice. Primary ovarian insufficiency
by Nelson, Lawrence M
The New England journal of medicine, 02/2009, Volume 360, Issue 6, pp. 606 - 614
Adrenal Insufficiency - complications | Osteoporosis - prevention & control | Humans | Primary Ovarian Insufficiency - diagnosis | Adult | Female | Fragile X Mental Retardation Protein - genetics | Primary Ovarian Insufficiency - drug therapy | Mutation | Primary Ovarian Insufficiency - etiology | Hormone Replacement Therapy | Practice Guidelines as Topic | Index Medicus | Abridged Index Medicus
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5. Full Text Mutations in NR5A1 Associated with Ovarian Insufficiency
by Lourenço, Diana and Brauner, Raja and Lin, Lin and De Perdigo, Arantzazu and Weryha, Georges and Muresan, Mihaela and Boudjenah, Radia and Guerra-Junior, Gil and Maciel-Guerra, Andréa T and Achermann, John C and McElreavey, Ken and Bashamboo, Anu
The New England journal of medicine, ISSN 0028-4793, 03/2009, Volume 360, Issue 12, pp. 1200 - 1210
Medicine, General & Internal | Life Sciences & Biomedicine | General & Internal Medicine | Science & Technology | Biological and medical sciences | General aspects | Medical sciences | Humans | Middle Aged | Molecular Sequence Data | Steroidogenic Factor 1 - genetics | Male | Amenorrhea - genetics | Steroidogenic Factor 1 - chemistry | Young Adult | Gonadal Dysgenesis, 46,XY - genetics | Female | Child | Infant, Newborn | Amino Acid Sequence | Gonadal Dysgenesis, 46,XY - pathology | Genotype | Penetrance | Phenotype | Sequence Alignment | Animals | Testis - pathology | Pedigree | Adolescent | Primary Ovarian Insufficiency - genetics | Protein Conformation | Mutation | Ovarian diseases | Genetic aspects | Research | Gene mutations | Sexual disorders | Adrenal glands | Medical research | Index Medicus | Abridged Index Medicus
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6. Full Text Mutations in MSH5 in primary ovarian insufficiency
by Guo, Ting and Zhao, Shidou and Zhao, Shigang and Chen, Min and Li, Guangyu and Jiao, Xue and Wang, Zhao and Zhao, Yueran and Qin, Yingying and Gao, Fei and Chen, Zi-Jiang
Human molecular genetics, ISSN 0964-6906, 04/2017, Volume 26, Issue 8, pp. 1452 - 1457
Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Base Sequence - genetics | Primary Ovarian Insufficiency - pathology | Humans | Male | Mutation, Missense - genetics | Homozygote | Exome - genetics | Animals | Pedigree | Primary Ovarian Insufficiency - genetics | Cell Cycle Proteins - genetics | Adult | Female | Heterozygote | Mice | Siblings | Index Medicus
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7. Full Text TP63‐truncating variants cause isolated premature ovarian insufficiency
by Tucker, Elena J and Jaillard, Sylvie and Grover, Sonia R and Bergen, Jocelyn and Robevska, Gorjana and Bell, Katrina M and Sadedin, Simon and Hanna, Chloe and Dulon, Jérôme and Touraine, Philippe and Sinclair, Andrew H
Human mutation, ISSN 1059-7794, 07/2019, Volume 40, Issue 7, pp. 886 - 892
POI cohort | whole‐exome sequencing, ovarian dysgenesis | PREPL | premature ovarian insufficiency | TP63 | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Genetic Predisposition to Disease | Transcription Factors - chemistry | Humans | Codon, Nonsense | Transcription Factors - genetics | Whole Exome Sequencing - methods | Pedigree | Tumor Suppressor Proteins - chemistry | Tumor Suppressor Proteins - genetics | Primary Ovarian Insufficiency - genetics | Serine Endopeptidases - genetics | Protein Domains | Female | Follicle-stimulating hormone | Amenorrhea | Phenotypes | Genotypes | Index Medicus | Life Sciences
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