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1. European journal of medical genetics
European journal of medical genetics, ISSN 1769-7212, 2005
Genetics | Genetic disorders | Chromosome abnormalities | Medical genetics
Journal
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2. The fragile X syndrome
by Davies, K. E. (Kay E.)
1989, Molecular medicine, ISBN 0192618369, ix, 138
Chromosome Abnormalities | Linkage (Genetics) | genetics | Fragile X syndrome | Mental Retardation
Book
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3. Family building through egg and sperm donation
: medical, legal, and ethical issues
by Crockin, Susan L and Seibel, Machelle M
1996, ISBN 9780867204834, xvi, 304
Artificial insemination, Human
Book
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4. Full Text Aberrations in Pseudoautosomal Regions (PARs) Found in Infertile Men with Y-Chromosome Microdeletions
by Jorgez, Carolina J and Weedin, John W and Sahin, Aysegul and Tannour-Louet, Mounia and Han, Shuo and Bournat, Juan C and Mielnik, Anna and Cheung, Sau Wai and Nangia, Ajay K and Schlegel, Peter N and Lipshultz, Larry I and Lamb, Dolores J
The journal of clinical endocrinology and metabolism, ISSN 0021-972X, 04/2011, Volume 96, Issue 4, pp. E674 - E679
Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Chromosome Deletion | Humans | Middle Aged | In Situ Hybridization, Fluorescence | Male | Sex Chromosome Disorders of Sex Development - genetics | Body Height - genetics | Case-Control Studies | Homeodomain Proteins - genetics | DNA Copy Number Variations | Short Stature Homeobox Protein | Chromosomes, Human, Y - genetics | Pseudogenes - genetics | Infertility, Male - genetics | Comparative Genomic Hybridization | Sex Chromosome Aberrations | Chromosome Aberrations | Adult | Index Medicus | Abridged Index Medicus | JCEM Online | Brief Reports
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5. MECHANISMS IN ENDOCRINOLOGY: Aberrations of the X chromosome as cause of male infertility
by Röpke, Albrecht and Tüttelmann, Frank
European journal of endocrinology, ISSN 0804-4643, 11/2017, Volume 177, Issue 5, p. R249
Chromosomes, Human, X - genetics | Infertility, Male - genetics | Spermatogenesis - genetics | Humans | Azoospermia - genetics | Infertility, Male - therapy | Male | Sperm Injections, Intracytoplasmic - methods | Azoospermia - therapy | Infertility, Male - diagnosis | Azoospermia - diagnosis | Sex chromosomes | Chromosome translocations | Oligozoospermia | Copy number | Infertility | X Chromosomes | Aneuploidy | Mosaicism | Mutation | Y Chromosomes | Chromosomes | Chromosome aberrations
Journal Article
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6. Full Text Recurrent aberrations identified by array-CGH in patients with Mayer-Rokitansky-Küster-Hauser syndrome
by Ledig, Susanne, Ph.D and Schippert, Cordula, M.D and Strick, Reiner, Ph.D and Beckmann, Matthias W., M.D and Oppelt, Patricia G., M.D and Wieacker, Peter, M.D
Fertility and sterility, ISSN 0015-0282, 2011, Volume 95, Issue 5, pp. 1589 - 1594
Internal Medicine | Obstetrics and Gynecology | 17q12 | 22q11.21 | recurrent aberrations | LHX1 | HNF1B | Mayer-Rokitansky-Küster-Hauser syndrome | array-CGH | 1q21.1 | Life Sciences & Biomedicine | Obstetrics & Gynecology | Reproductive Biology | Science & Technology | Gynecology. Andrology. Obstetrics | Biological and medical sciences | Medical sciences | 46, XX Disorders of Sex Development - genetics | Genetic Association Studies | Gene Frequency | Humans | Vagina - abnormalities | Uterus - abnormalities | Case-Control Studies | Chromosomes, Human, Pair 17 - genetics | Spine - abnormalities | Chromosomes, Human, Pair 22 - genetics | Congenital Abnormalities | Mullerian Ducts - abnormalities | Chromosome Aberrations - statistics & numerical data | Comparative Genomic Hybridization | Kidney - abnormalities | Somites - abnormalities | Female | Chromosomes, Human, Pair 1 - genetics | Abnormalities, Multiple - genetics | Cohort Studies | Index Medicus
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7. Full Text Molecular and Clinical Characteristics of 26 Cases with Structural Y Chromosome Aberrations
by Kim, J.-W and Park, S.-Y and Ryu, H.-M and Lee, D.-E and Lee, B.-Y and Kim, S.-Y and Park, Y.-S and Lee, H.-S and Seo, J.-T
Cytogenetic and genome research, ISSN 1424-8581, 06/2012, Volume 136, Issue 4, pp. 270 - 277
Original Article | AZF region microdeletions | Infertility | Structural Y chromosome aberrations | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Cell Biology | Chromosome Deletion | Translocation, Genetic | Chromosome Banding | Humans | Middle Aged | In Situ Hybridization, Fluorescence | Male | Sex Chromosome Disorders of Sex Development - genetics | Chromosome Inversion | Chromosomes, Human, Y - genetics | Young Adult | Sex Chromosome Aberrations | Infertility, Male | Karyotyping | Azoospermia - genetics | Adult | Female | Index Medicus | Neonates | Follicle-stimulating hormone | Semen | Sperm | Y chromosome | Inversion | Chromosome deletion | Isochromosomes | Estradiol | Mental retardation | Polymerase chain reaction | Testosterone | Chromosome translocations | Reproduction | Uterus | Prolactin | Fluorescence in situ hybridization | Amenorrhea
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8. Fragile sites on human chromosomes
by Sutherland, Grant R and Hecht, Frederick
1985, Oxford monographs on medical genetics, ISBN 9780195035421, Volume no. 13, xiv, 280
Human chromosome abnormalities | Fragile X syndrome | Sex Chromosome Abnormalities | Chromosome Fragile Sites
Book
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9. Full Text Fetal Sex Chromosome Testing by Maternal Plasma DNA Sequencing: Clinical Laboratory Experience and Biology
by Bianchi, Diana W and Parsa, Saba and Bhatt, Sucheta and Halks-Miller, Meredith and Kurtzman, Kathryn and Sehnert, Amy J and Swanson, Amy
Obstetrics and gynecology (New York. 1953), ISSN 0029-7844, 02/2015, Volume 125, Issue 2, pp. 375 - 382
Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Pregnancy | Sex Chromosome Aberrations | Humans | Maternal Serum Screening Tests - statistics & numerical data | Female | Sex Determination Analysis | Sex Chromosomes | Sequence Analysis, DNA | Index Medicus | Abridged Index Medicus
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10. Vandalized lovemaps
: paraphilic outcome of seven cases in pediatric sexology
by Money, John, 1921-2006 and Lamacz, Margaret, 1949
1989, ISBN 087975513X, 224
Genitalia | Paraphilias | Abnormalities | Endocrine aspects | case studies | etiology | Chromosome Abnormalities | Endocrine Diseases | Psychosexual disorders | Genetic aspects | Complications and sequelae | Sex chromosome abnormalities | Generative organs
Book
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11. Full Text Chromosome aberrations in a schizophrenia population
by Demirhan, Osman and Taştemir, Deniz
Schizophrenia research, ISSN 0920-9964, 2003, Volume 65, Issue 1, pp. 1 - 7
Schizophrenia | Cytogenetics | Deletion | Chromosome 1, 7, 9, 11, 21, 22 and X | Pericentric inversion | Life Sciences & Biomedicine | Psychiatry | Science & Technology | Psychology. Psychoanalysis. Psychiatry | Psychoses | Adult and adolescent clinical studies | Psychopathology. Psychiatry | Medical genetics | Biological and medical sciences | Medical sciences | Chromosome aberrations | Chromosome Deletion | Genetic Predisposition to Disease - genetics | Chromosome Banding | Humans | Middle Aged | Male | Risk | Chromosome Mapping | Chromosomes, Human, Pair 9 | Schizophrenic Psychology | Chromosome Inversion | Chromosomes, Human, X | Chromosome Aberrations - statistics & numerical data | Schizophrenia - genetics | Schizophrenia - diagnosis | Sex Chromosome Aberrations - statistics & numerical data | Genetic Markers - genetics | Down Syndrome - genetics | Adult | Female | Down Syndrome - diagnosis | Chromosome Aberrations - classification | Sex Chromosome Aberrations - classification | Index Medicus
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12. Full Text Structural chromosome aberrations cause swelling of the nucleus
by Takeshita, Kenji and Ogawa, Hiroaki I and Maeda, Toshinari
Genes and environment, ISSN 1880-7046, 2016, Volume 38, Issue 1, pp. 22 - 22
Chromosomal aberration | Carcinogen | Clastogen | Aneugen | Nuclear swelling | Genotoxicity | Non-mutagen | Methane | Cyclophosphamide | Mitomycin | Benzopyrene | Lymphomas | Hormones, Sex | Colchicine | Cells
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13. Full Text Clinical utility of noninvasive prenatal screening for expanded chromosome disease syndromes
by Liang, Desheng and Cram, David S and Tan, Hu and Linpeng, Siyuan and Liu, Yingdi and Sun, Huaiyu and Zhang, Yu and Tian, Feng and Zhu, Hongmin and Xu, Mengnan and Wang, Hua and Yu, Fuli and Wu, Lingqian
Genetics in medicine, ISSN 1098-3600, 2019, Volume 21, Issue 9, pp. 1998 - 2006
copy-number variation (CNV) | microdeletion/microduplication syndromes (MMS) | noninvasive prenatal screening | 22q11.2 microdeletions | positive predictive value (PPV) | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Chromosome Disorders - pathology | Noninvasive Prenatal Testing - methods | Humans | Middle Aged | Prenatal Diagnosis | Risk Factors | Aneuploidy | DNA Copy Number Variations - genetics | Cell-Free Nucleic Acids - genetics | Pregnancy | Young Adult | Trisomy - genetics | Sex Chromosome Aberrations | Karyotyping | Adolescent | Chromosome Aberrations | Chromosome Disorders - diagnosis | Adult | Female | Chromosome Disorders - genetics | Chromosomes | Genomes | Index Medicus
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14. Full Text Analysis of cell‐free DNA in maternal blood in screening for fetal aneuploidies: updated meta‐analysis
by Gil, M. M and Quezada, M. S and Revello, R and Akolekar, R and Nicolaides, K. H
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 03/2015, Volume 45, Issue 3, pp. 249 - 266
fetal aneuploidy | trisomy 13 | trisomy 21 | non‐invasive prenatal testing | Turner syndrome | cell‐free fetal DNA | trisomy 18 | Non-invasive prenatal testing | Trisomy 21 | Trisomy 13 | Cell-free fetal DNA | Fetal aneuploidy | Trisomy 18 | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Chromosomes, Human, Pair 13 - genetics | Predictive Value of Tests | Humans | Prenatal Diagnosis | Maternal Serum Screening Tests - methods | Sequence Analysis, DNA | Chromosomes, Human, X | Pregnancy | Chromosomes, Human, Y | Trisomy - diagnosis | Trisomy - genetics | Cell-Free System | Sex Chromosome Aberrations | Karyotyping | Down Syndrome - genetics | Trisomy 18 Syndrome | Chromosome Disorders - diagnosis | Female | Trisomy 13 Syndrome | Down Syndrome - diagnosis | Chromosomes, Human, Pair 18 - genetics | Chromosome Disorders - genetics | Pregnant women | Chromosomes | Analysis | DNA | Index Medicus
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