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1. Making sense of intersex
: changing ethical perspectives in biomedicine
by Feder, Ellen K
2014, ISBN 0253012244, xiv, 261
Bioethics | Intersexuality | Moral and ethical aspects | Treatment
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2. Full Text Complex phenotypes blur conventional borders between Say–Barber–Biesecker–Young–Simpson syndrome and genitopatellar syndrome
by Radvanszky, J and Hyblova, M and Durovcikova, D and Hikkelova, M and Fiedler, E and Kadasi, L and Turna, J and Minarik, G and Szemes, T
Clinical genetics, ISSN 0009-9163, 02/2017, Volume 91, Issue 2, pp. 339 - 343
Say–Barber–Biesecker–Young–Simpson syndrome, SBBYSS | KAT6B | lysine acetyltransferase 6B | genitopatellar syndrome | KAT6B spectrum disorders | GTPTS | KAT6B‐related disorders | KAT6B-related disorders | Life Sciences & Biomedicine | Genetics & Heredity | Science & Technology | Abnormalities, Multiple - pathology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Intellectual Disability - genetics | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Abnormalities, Multiple - genetics | Craniofacial Abnormalities - genetics | Joint Instability - diagnosis | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Abnormalities, Multiple - diagnosis | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Genetic disorders | Multiprocessing | Lysine | Genetic aspects | Nucleotide sequencing | DNA sequencing | Genotype & phenotype | Index Medicus
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3. Full Text Further delineation of the KAT6B molecular and phenotypic spectrum
by Gannon, Tamsin and Perveen, Rahat and Schlecht, Helene and Ramsden, Simon and Anderson, Beverley and Kerr, Bronwyn and Day, Ruth and Banka, Siddharth and Suri, Mohnish and Berland, Siren and Gabbett, Michael and Ma, Alan and Lyonnet, Stan and Cormier-Daire, Valerie and Yilmaz, Ruestem and Borck, Guntram and Wieczorek, Dagmar and Anderlid, Britt-Marie and Smithson, Sarah and Vogt, Julie and Moore-Barton, Heather and Simsek-Kiper, Pelin Ozlem and Maystadt, Isabelle and Destree, Anne and Bucher, Jessica and Angle, Brad and Mohammed, Shehla and Wakeling, Emma and Price, Sue and Singer, Amihood and Sznajer, Yves and Toutain, Annick and Haye, Damien and Newbury-Ecob, Ruth and Fradin, Melanie and McGaughran, Julie and Tuysuz, Beyhan and Tein, Mark and Bouman, Katelijne and Dabir, Tabib and Van den Ende, Jenneke and Luk, Ho Ming and Pilz, Daniela T and Eason, Jacqueline and Davies, Sally and Reardon, Willie and Garavelli, Livia and Zuffardi, Orsetta and Devriendt, Koen and Armstrong, Ruth and DDD Study and DDD study
European journal of human genetics : EJHG, ISSN 1018-4813, 09/2015, Volume 23, Issue 9, pp. 1165 - 1170
BLEPHAROPHIMOSIS | OHDO SYNDROME | DE-NOVO MUTATIONS | MENTAL-RETARDATION | HISTONE ACETYLTRANSFERASE KAT6B | CAUSE GENITOPATELLAR SYNDROME | Biochemistry & Molecular Biology | Genetics & Heredity | Life Sciences & Biomedicine | Science & Technology | Scrotum - abnormalities | Kidney - pathology | Exons | Humans | Joint Instability - genetics | Child, Preschool | Histone Acetyltransferases - genetics | Joint Instability - pathology | Blepharophimosis - pathology | Male | Intellectual Disability - genetics | Exome | Blepharophimosis - genetics | Heart Defects, Congenital - genetics | Psychomotor Disorders - genetics | Congenital Hypothyroidism - diagnosis | DNA Mutational Analysis | Blepharophimosis - diagnosis | Congenital Hypothyroidism - genetics | Facies | Patella - abnormalities | Craniofacial Abnormalities - pathology | Female | Scrotum - pathology | Craniofacial Abnormalities - genetics | Severity of Illness Index | Diagnosis, Differential | Gene Expression | Joint Instability - diagnosis | Genetic Association Studies | Urogenital Abnormalities - diagnosis | Heart Defects, Congenital - pathology | Intellectual Disability - pathology | Psychomotor Disorders - pathology | Genotype | Patella - pathology | Phenotype | Urogenital Abnormalities - pathology | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Intellectual Disability - diagnosis | Psychomotor Disorders - diagnosis | Congenital Hypothyroidism - pathology | Heart Defects, Congenital - diagnosis | Mutation | Urogenital Abnormalities - genetics | Pediatrics | Phenotypes | Congenital diseases | Statistical analysis | Splicing | Intellectual disabilities | Thyroid gland | Blepharophimosis | Gene deletion | Defects | Haploinsufficiency | Medicine | Genotype & phenotype | Hospitals | Molecular modelling | Clonal deletion | Genetics | Genotypes | Thyroid | Index Medicus | Life Sciences | Human genetics | Medicin och hälsovetenskap
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4. Full Text Ultrasound diagnosis of fetal renal abnormalities
by Dias, Tiran, MD (Obs & Gyn), MRCOG (UK), MD-Research (London), Dip (Fetal Med) UK and Sairam, Shanthi, MBBS, MRCOG and Kumarasiri, Shanya, MBBS
Best practice & research. Clinical obstetrics & gynaecology, ISSN 1521-6934, 2014, Volume 28, Issue 3, pp. 403 - 415
Obstetrics and Gynecology | prenatal diagnosis | renal tract anomalies | ultrasound | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Urogenital Abnormalities - diagnostic imaging | Pregnancy Trimester, Second | Kidney - embryology | Ureter - abnormalities | Kidney Diseases - congenital | Humans | Fetal Diseases - diagnostic imaging | Kidney Diseases - diagnostic imaging | Congenital Abnormalities - diagnostic imaging | Pregnancy Trimester, First | Urinary Bladder - abnormalities | Polycystic Kidney Diseases - diagnostic imaging | Pregnancy | Urethra - diagnostic imaging | Kidney - abnormalities | Kidney - diagnostic imaging | Urethra - abnormalities | Urogenital Abnormalities - surgery | Ultrasonography, Prenatal | Urinary Bladder - diagnostic imaging | Female | Fetal Diseases - surgery | Ureter - diagnostic imaging | Dilatation, Pathologic - diagnostic imaging | Pregnant women | Genetic disorders | Diagnosis | Index Medicus
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5. Full Text Fraser syndrome: features suggestive of prenatal diagnosis in a review of 38 cases
by Tessier, Aude and Sarreau, Mélie and Pelluard, Fanny and André, Gwenaelle and Blesson, Sophie and Bucourt, Martine and Dechelotte, Pierre and Faivre, Laurence and Frébourg, Thierry and Goldenberg, Alice and Goua, Valérie and Jeanne‐Pasquier, Corinne and Guimiot, Fabien and Laquerriere, Annie and Laurent, Nicole and Lefebvre, Mathilde and Loget, Philippe and Maréchaud, Martine and Mechler, Charlotte and Perez, Marie‐Josée and Sabourin, Jean Christophe and Verloes, Alain and Patrier, Sophie and Guerrot, Anne‐Marie
Prenatal diagnosis, ISSN 0197-3851, 12/2016, Volume 36, Issue 13, pp. 1270 - 1275
Genetics & Heredity | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Oligohydramnios - diagnostic imaging | Eye Abnormalities - diagnostic imaging | Fraser Syndrome - diagnosis | Kidney - embryology | Humans | Syndactyly - diagnostic imaging | Craniofacial Abnormalities - embryology | Eye Abnormalities - embryology | Ear - embryology | Abnormalities, Multiple - embryology | Ear - diagnostic imaging | Fraser Syndrome - embryology | Kidney - diagnostic imaging | Airway Obstruction - diagnostic imaging | Airway Obstruction - embryology | Female | Fraser Syndrome - diagnostic imaging | Infant, Newborn | Urogenital Abnormalities - diagnosis | Ear - abnormalities | Hydrops Fetalis - diagnostic imaging | Congenital Abnormalities - embryology | Congenital Abnormalities - diagnostic imaging | Gestational Age | Pregnancy | Phenotype | Craniofacial Abnormalities - diagnosis | Kidney - abnormalities | Ultrasonography, Prenatal | Abnormalities, Multiple - diagnosis | Prenatal Diagnosis - methods | Employee dismissals | Dysplasia | Pregnant women | Multiple abnormalities | Analysis | Index Medicus
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6. Full Text Severity of Birth Defects After Propylthiouracil Exposure in Early Pregnancy
by Andersen, Stine Linding and Olsen, Jørn and Wu, Chun Sen and Laurberg, Peter
Thyroid (New York, N.Y.), ISSN 1050-7256, 10/2014, Volume 24, Issue 10, pp. 1533 - 1540
Pregnancy and Fetal Development | Life Sciences & Biomedicine | Endocrinology & Metabolism | Science & Technology | Hyperthyroidism - diagnosis | Humans | Child, Preschool | Infant | Male | Craniofacial Abnormalities - surgery | Case-Control Studies | Time Factors | Urogenital Abnormalities - chemically induced | Female | Registries | Child | Infant, Newborn | Severity of Illness Index | Antithyroid Agents - adverse effects | Propylthiouracil - adverse effects | Risk Assessment | Urogenital Abnormalities - diagnosis | Abnormalities, Drug-Induced - surgery | Risk Factors | Proportional Hazards Models | Hyperthyroidism - drug therapy | Craniofacial Abnormalities - chemically induced | Pregnancy Complications - diagnosis | Chi-Square Distribution | Pregnancy Complications - drug therapy | Pregnancy | Craniofacial Abnormalities - diagnosis | Urogenital Abnormalities - surgery | Abnormalities, Drug-Induced - etiology | Denmark | Abnormalities, Drug-Induced - diagnosis | Index Medicus
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7. Full Text Diagnosis and treatment of müllerian malformations
by Passos, Itana de Mattos Pinto e and Britto, Renata Lopes
Taiwanese journal of obstetrics & gynecology, ISSN 1028-4559, 03/2020, Volume 59, Issue 2, pp. 183 - 188
Genital anomalies | Primary amenorrhea | Vaginal agenesis | Müllerian malformations | Pelvic pain | Life Sciences & Biomedicine | Obstetrics & Gynecology | Science & Technology | Hysteroscopy | Vagina - surgery | Endometriosis - diagnosis | Humans | Congenital Abnormalities - etiology | Vagina - abnormalities | Pelvic Pain - diagnosis | Dysmenorrhea - congenital | Congenital Abnormalities - diagnosis | Ultrasonography | Adult | Female | Pelvic Pain - congenital | Pelvic Pain - surgery | Endometriosis - surgery | Urogenital Abnormalities - diagnosis | Uterus - abnormalities | Laparoscopy | Uterus - surgery | Hysterosalpingography | Pregnancy | Congenital Abnormalities - surgery | Magnetic Resonance Imaging | Mullerian Ducts - abnormalities | Sexual Dysfunction, Physiological - etiology | Sexual Dysfunction, Physiological - surgery | Urogenital Abnormalities - complications | Urogenital Abnormalities - surgery | Endometriosis - congenital | Dysmenorrhea - diagnosis | Dysmenorrhea - surgery | Sexual Dysfunction, Physiological - diagnosis | Care and treatment | Diagnosis | Genitourinary organs | Abnormalities
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8. Full Text The presentation and management of complex female genital malformations
by Acién, Pedro and Acién, Maribel
Human reproduction update, ISSN 1355-4786, 2016, Volume 22, Issue 1, pp. 48 - 69
Unilateral renal agenesis | Vaginal atresia | Classification | Cervicovaginal agenesis | Cloacal anomalies | Management | Obstructive anomalies | Urogenital sinus | Complex malformations | Female genital tract anomalies | Life Sciences & Biomedicine | Obstetrics & Gynecology | Reproductive Biology | Science & Technology | Urogenital Abnormalities - diagnosis | Kidney Diseases - congenital | Humans | Kidney Diseases - diagnosis | Vagina - abnormalities | Uterus - abnormalities | Genitalia, Female - embryology | Unnecessary Procedures | Congenital Abnormalities - diagnosis | Reproduction | Kidney - abnormalities | Kidney Diseases - therapy | Quality of Life | Female | Genitalia, Female - abnormalities | Early Diagnosis | Urogenital Abnormalities - therapy | Congenital Abnormalities - therapy | Index Medicus
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9. Full Text Accuracy of three‐dimensional ultrasound compared with magnetic resonance imaging in diagnosis of Müllerian duct anomalies using ESHRE–ESGE consensus on the classification of congenital anomalies of the female genital tract
by Graupera, B and Pascual, M. A and Hereter, L and Browne, J. L and Úbeda, B and Rodríguez, I and Pedrero, C
Ultrasound in obstetrics & gynecology, ISSN 0960-7692, 11/2015, Volume 46, Issue 5, pp. 616 - 622
magnetic resonance imaging | congenital uterine anomalies | uterine malformations | 3D‐US | uterine abnormalities | three‐dimensional ultrasonography | Müllerian duct anomalies | 3D-US | three-dimensional ultrasonography | Acoustics | Life Sciences & Biomedicine | Technology | Radiology, Nuclear Medicine & Medical Imaging | Obstetrics & Gynecology | Science & Technology | Uterus - pathology | Reproducibility of Results | Urogenital Abnormalities - diagnosis | Humans | Vagina - abnormalities | Uterus - abnormalities | Mullerian Ducts - pathology | Mullerian Ducts - abnormalities | Urogenital Abnormalities - pathology | Societies, Medical | Cervix Uteri - pathology | Female | Cervix Uteri - abnormalities | Retrospective Studies | Vagina - pathology | Index Medicus
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