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genetics & heredity (27) 27
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1. Full Text The effects of exchange rate volatility on exports: evidence from Armenia
by Barseghyan, Gayane and Hambardzumyan, Hayk
Applied Economics Letters, ISSN 1350-4851, 10/2018, Volume 25, Issue 18, pp. 1266 - 1268
The article examines how the volatility of exchange rate affected Armenia's export to its main trading partner, Russia, in the period from January 2007 to... 
real exchange rate | Exchange rate volatility | E42 | C32 | E00 | F31 | exports | cointegration | ECONOMICS | TRADE-FLOWS | Foreign exchange rates | Economic models | Volatility
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2. Full Text Genetic evidence of the association of DEAH-box helicase 37 defects with 46,XY gonadal dysgenesis spectrum
by Evilen da Silva, Thatiana and Gomes, Nathalia Lisboa and Lerário, Antonio Marcondes and Keegan, Catherine Elizabeth and Nishi, Mirian Yumi and Carvalho, Filomena Marino and Vilain, Eric and Barseghyanm, Hayk and Martinez-Aguayo, Alejandro and Forclaz, María Verónica and Papazian, Regina and Pedroso de Paula, Leila Cristina and Costa, Eduardo Corrêa and Carvalho, Luciani Renata and Jorge, Alexander A and Elias, Felipe and Mitchell, Rod and Frade Costa, Elaine Maria and Mendonca, Berenice Bilharinho and Domenice, Sorahia
The Journal of clinical endocrinology and metabolism, ISSN 0021-972X, 07/2019, Volume 104, Issue 12, pp. 5923 - 5934
46,XY gonadal dysgenesis (GD) is a heterogeneous group of disorders with a wide phenotypic spectrum, including embryonic testicular regression syndrome (ETRS).... 
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3. Full Text Translating genomics to the clinical diagnosis of disorders/differences of sex development
by Parivesh, Abhinav and Barseghyan, Hayk and Délot, Emmanuèle and Vilain, Eric
Current Topics in Developmental Biology, ISSN 0070-2153, 2019, Volume 134, pp. 317 - 317
The medical and psychosocial challenges faced by patients living with Disorders/Differences of Sex Development (DSD) and their families can be alleviated by a... 
Next-generation sequencing | Sexual development | Optical genome mapping | Structural variants | Whole genome sequencing | Exome sequencing | Long-read sequencing | Disorders/differences of sex development | Genetic diagnosis | ANDROGEN-RECEPTOR GENE | ANTLEY-BIXLER-SYNDROME | CHAIN CLEAVAGE ENZYME | GONADOTROPIN-RELEASING-HORMONE | BARDET-BIEDL-SYNDROME | FOLLICLE-STIMULATING-HORMONE | CONGENITAL ADRENAL-HYPERPLASIA | 46,XY GONADAL-DYSGENESIS | DEVELOPMENTAL BIOLOGY | ANTI-MULLERIAN HORMONE | OF-FUNCTION MUTATIONS
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4. Full Text Sex-Specific Effects of Testosterone on the Sexually Dimorphic Transcriptome and Epigenome of Embryonic Neural Stem/Progenitor Cells
by Bramble, Matthew S and Roach, Lara and Lipson, Allen and Vashist, Neerja and Eskin, Ascia and Ngun, Tuck and Gosschalk, Jason E and Klein, Steven and Barseghyan, Hayk and Arboleda, Valerie A and Vilain, Eric
Scientific Reports, ISSN 2045-2322, 11/2016, Volume 6, Issue 1, p. 36916
The mechanisms by which sex differences in the mammalian brain arise are poorly understood, but are influenced by a combination of underlying genetic... 
MOUSE-BRAIN | DNA METHYLATION | BEHAVIOR | MULTIDISCIPLINARY SCIENCES | CONGENITAL ADRENAL-HYPERPLASIA | NEUROGENESIS | PROLIFERATION | DIFFERENTIATION | LARGE GENE LISTS | EXPRESSION | MASCULINIZATION | Embryonic Stem Cells - metabolism | Embryonic Stem Cells - cytology | Male | Sex Chromosomes | Neural Stem Cells - cytology | Testosterone - pharmacology | Cell Lineage - drug effects | RNA - isolation & purification | Female | Epigenesis, Genetic - drug effects | RNA - metabolism | Mice, Inbred C57BL | Neural Stem Cells - drug effects | Transcriptome - drug effects | Sex Characteristics | RNA - chemistry | Acetylation - drug effects | Animals | Sequence Analysis, RNA | Embryonic Stem Cells - drug effects | Mice | Histones - metabolism | DNA Methylation - drug effects | Neural Stem Cells - metabolism | Microscopy, Fluorescence | Pattern formation | Testosterone | Propionic acid | Central nervous system | DNA methylation | Neural stem cells | Sex differences | Gender differences | Acetylation | Sexual dimorphism | Gene expression | Ribonucleic acid--RNA
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5. Full Text MAP3K1‐related gonadal dysgenesis: Six new cases and review of the literature
by Granados, Andrea and Alaniz, Veronica I and Mohnach, Lauren and Barseghyan, Hayk and Vilain, Eric and Ostrer, Harry and Quint, Elisabeth H and Chen, Ming and Keegan, Catherine E
American Journal of Medical Genetics Part C: Seminars in Medical Genetics, ISSN 1552-4868, 06/2017, Volume 175, Issue 2, pp. 253 - 259
Investigation of disorders of sex development (DSD) has resulted in the discovery of multiple sex‐determining genes. MAP3K1 encodes a signal transduction... 
46,XY DSD | disorders of sex development | MAP3K1 | gonadal dysgenesis | DIAGNOSIS | MANAGEMENT | XY DSD | TESTIS | SEX DEVELOPMENT | GENETICS & HEREDITY | DISORDERS | MUTATIONS | Gonadal Dysgenesis - physiopathology | 46, XY Disorders of Sex Development - genetics | Gonadal Dysgenesis - genetics | 46, XY Disorders of Sex Development - physiopathology | Humans | Sex Differentiation - genetics | Child, Preschool | Male | Pedigree | Adolescent | Female | MAP Kinase Kinase Kinase 1 - genetics | Mutation | Child | Evaluation | Genitalia | Genes | Disorders | Sex | Literature reviews | Gonadal dysgenesis | Signal transduction | Sex determination | Genetic analysis | Transduction | Gonads | Hypertrophy | Siblings | Disorders of sex development
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6. Full Text New technologies to uncover the molecular basis of disorders of sex development
by Barseghyan, Hayk and Délot, Emmanuèle C and Vilain, Eric
Molecular and Cellular Endocrinology, ISSN 0303-7207, 06/2018, Volume 468, pp. 60 - 69
The elegant developmental biology experiments conducted in the 1940s by French physiologist Alfred Jost demonstrated that the sexual phenotype of a mammalian... 
Testis development | Exome | DSD | Genome mapping | Whole genome sequencing | 46,XY DISORDERS | DEVELOPMENT DSD | MENDELIAN DISORDERS | PREMATURE OVARIAN FAILURE | CELL BIOLOGY | DETERMINING REGION | GENETIC-VARIATION | TESTIS-DETERMINING FACTOR | ENDOCRINOLOGY & METABOLISM | GONADAL-DYSGENESIS | STRUCTURAL VARIATION | CLINICAL EXOME | Anopheles | Developmental biology | Technology | Analysis | Genes | Genomics | Genomes | Nucleotide sequencing | Nucleotides | Gene expression | Genetic screening | DNA sequencing
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7. Full Text Regulation of sex determination in mice by a non-coding genomic region
by Arboleda, Valerie A and Fleming, Alice and Barseghyan, Hayk and Délot, Emmanuèle and Sinsheimer, Janet S and Vilain, Eric
Genetics, ISSN 0016-6731, 2014, Volume 197, Issue 3, pp. 885 - 897
To identify novel genomic regions that regulate sex determination, we utilized the powerful C57BL/6J-Y-POS (B6-Y-POS) model of XY sex reversal where mice with... 
SRY-RELATED GENE | SOX9 EXPRESSION | Y-CHROMOSOME | CAMPOMELIC DYSPLASIA | UPSTREAM | MOUSE | GENETICS & HEREDITY | DUPLICATION | MUTATIONS | TRUE HERMAPHRODITISM | REVERSAL | SOX9 Transcription Factor - metabolism | Breeding | Chromosomes, Mammalian - genetics | Sex Determination Processes - genetics | Mice, Inbred C57BL | Genome - genetics | Male | Mice, 129 Strain | DNA, Intergenic - genetics | Regulatory Sequences, Nucleic Acid - genetics | Founder Effect | Homozygote | Animals | Time Factors | Polymorphism, Single Nucleotide - genetics | Female | Heterozygote | Noncoding DNA | Research | Developmental biology | Genomics | Analysis | Sex determination, Genetic | Genetic research | Epigenetics | Sexes | Chromosomes | Rodents | congenic | gonad | sex reversal | disorders of sex development | testis | Investigations | sex determination
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8. Full Text Identification of Genetic Etiology in Disorders of Sex Development
by Barseghyan, Hayk
01/2017, ISBN 9781369698732
Disorders of Sex Development (DSD) are defined as “congenital conditions in which development of chromosomal, gonadal, or anatomic sex is atypical.” These... 
Genetics
Dissertation
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9. Full Text Identification of rare-disease genes using blood transcriptome sequencing and large control cohorts
by Frésard, Laure and Smail, Craig and Ferraro, Nicole M and Teran, Nicole A and Li, Xin and Smith, Kevin S and Bonner, Devon and Kernohan, Kristin D and Marwaha, Shruti and Zappala, Zachary and Balliu, Brunilda and Davis, Joe R and Liu, Boxiang and Prybol, Cameron J and Kohler, Jennefer N and Zastrow, Diane B and Reuter, Chloe M and Fisk, Dianna G and Grove, Megan E and Davidson, Jean M and Hartley, Taila and Joshi, Ruchi and Strober, Benjamin J and Utiramerur, Sowmithri and Adams, David R and Aday, Aaron and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Baker, Eva and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Berry, Gerard T and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brokamp, Elly and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Colley, Heather A and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Duncan, Laura and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fieg, Elizabeth L and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldman, Alica M and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and ... and Care4Rare Canada Consortium and Undiagnosed Diseases Network and Medicinska fakulteten and Klinisk epidemiologi and Medicinska och farmaceutiska vetenskapsområdet and Uppsala universitet and Institutionen för medicinska vetenskaper
Nature Medicine, ISSN 1078-8956, 06/2019, Volume 25, Issue 6, pp. 911 - 919
It is estimated that 350 million individuals worldwide suffer from rare diseases, which are predominantly caused by mutation in a single gene . The current... 
Rare Diseases - genetics | Acid Ceramidase - genetics | Rare Diseases - blood | Humans | Child, Preschool | Male | Case-Control Studies | Potassium Channels - genetics | RNA - genetics | Whole Exome Sequencing | Genetic Variation | Sequence Analysis, RNA | RNA Splicing - genetics | Female | Oxidoreductases Acting on CH-CH Group Donors - genetics | Models, Genetic | Mutation | Child | RNA - blood | Cohort Studies | Disease | Splicing | Muscles | Ribonucleic acid--RNA | Gene expression | Disease control | Blood | Gene sequencing | Diseases | Mitochondria | Biopsy | Diagnostic software | Fibroblasts | Diagnostic systems | Basic Medicine | Medical Genetics | Medicinsk genetik | Medical and Health Sciences | Medicin och hälsovetenskap | Medicinska och farmaceutiska grundvetenskaper
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10. Full Text Exome Sequencing for the Diagnosis of 46,XY Disorders of Sex Development
by Baxter, Ruth M and Arboleda, Valerie A and Lee, Hane and Barseghyan, Hayk and Adam, Margaret P and Fechner, Patricia Y and Bargman, Renee and Keegan, Catherine and Travers, Sharon and Schelley, Susan and Hudgins, Louanne and Mathew, Revi P and Stalker, Heather J and Zori, Roberto and Gordon, Ora K and Ramos-Platt, Leigh and Pawlikowska-Haddal, Anna and Eskin, Ascia and Nelson, Stanley F and Délot, Emmanuèle and Vilain, Eric
The Journal of Clinical Endocrinology & Metabolism, ISSN 0021-972X, 02/2015, Volume 100, Issue 2, pp. E333 - E344
Context: Disorders of sex development (DSD) are clinical conditions where there is a discrepancy between the chromosomal sex and the phenotypic (gonadal or... 
PROTEIN | GENE | ENDOCRINOLOGY & METABOLISM | GERMLINE MUTATIONS | MALE PSEUDOHERMAPHRODITISM | IMPLICATE | STEROIDOGENIC FACTOR-I | REVERSAL | Exome | 46, XY Disorders of Sex Development - genetics | Phenotype | 46, XY Disorders of Sex Development - diagnosis | Humans | Male | Genetic Testing - methods | Advances in Genetics | JCEM Online
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11. Full Text A novel follicle-stimulating hormone receptor mutation causing primary ovarian failure: a fertility application of whole exome sequencing
by Bramble, Matthew S and Goldstein, Ellen H and Lipson, Allen and Ngun, Tuck and Eskin, Ascia and Gosschalk, Jason E and Roach, Lara and Vashist, Neerja and Barseghyan, Hayk and Lee, Eric and Arboleda, Valerie A and Vaiman, Daniel and Yuksel, Zafer and Fellous, Marc and Vilain, Eric
Human Reproduction, ISSN 0268-1161, 04/2016, Volume 31, Issue 4, pp. 905 - 914
Abstract STUDY QUESTION Can whole exome sequencing (WES) and in vitro validation studies be used to find the causative genetic etiology in a patient with... 
primary amenorrhea | premature ovarian failure | follicle-stimulating hormone receptor | whole exome sequencing | resistant ovary syndrome | DIAGNOSIS | FSH RECEPTOR | MENDELIAN DISORDERS | INSUFFICIENCY | VITRO OOCYTE MATURATION | CHROMOSOMAL INSTABILITY | OBSTETRICS & GYNECOLOGY | REPRODUCTIVE BIOLOGY | SEX DEVELOPMENT | GENE-THERAPY | EXPRESSION | Recombinant Proteins - metabolism | Primary Ovarian Insufficiency - metabolism | Genome-Wide Association Study | Protein Structure, Secondary | Receptors, FSH - chemistry | Receptors, FSH - genetics | Humans | Models, Molecular | Recombinant Proteins - chemistry | Mutation, Missense | Sequence Analysis, DNA | Protein Transport | Exome | Young Adult | Homozygote | Turkey | HEK293 Cells | Primary Ovarian Insufficiency - genetics | Adult | Female | Consanguinity | Receptors, FSH - metabolism | Siblings | Original
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12. Full Text Next-generation mapping: A novel approach for detection of pathogenic structural variants with a potential utility in clinical diagnosis
by Barseghyan, Hayk and Tang, Wilson and Wang, Richard T and Almalvez, Miguel and Segura, Eva and Bramble, Matthew S and Lipson, Allen and Douine, Emilie D and Lee, Hane and Délot, Emmanuèle C and Nelson, Stanley F and Vilain, Eric
Genome Medicine, ISSN 1756-994X, 10/2017, Volume 9, Issue 1, pp. 90 - 11
Background: Massively parallel DNA sequencing, such as exome sequencing, has become a routine clinical procedure to identify pathogenic variants responsible... 
Structural variants | Duchenne muscular dystrophy | Next-generation mapping | Nanochannel | Optical mapping | DMD | Bionano | GENETICS & HEREDITY | MENDELIAN DISORDERS | GENOME | Humans | Male | Chromosome Mapping | Sequence Inversion | Mothers | Genomic Structural Variation | Dystrophin - genetics | DNA Mutational Analysis | Gene Deletion | Female | Mutagenesis, Insertional | Muscular Dystrophy, Duchenne - genetics | Genome, Human | Genetic Carrier Screening | Cohort Studies | Muscular Dystrophy, Duchenne - diagnosis | RNA sequencing | RNA | Genes | Genomics | Genomes | Nucleotide sequencing | DNA sequencing | Breakpoints | Phenotypes | Introns | Insertion | Inversion | Gene deletion | Ribonucleic acid--RNA | Muscular dystrophy | Molecular weight | Polymerase chain reaction | Chromosome translocations | DNA microarrays | Clonal deletion | Duchenne's muscular dystrophy | Mutation | Dystrophy | Gene mapping | Dystrophin | Deoxyribonucleic acid--DNA
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13. Full Text A comprehensive iterative approach is highly effective in diagnosing individuals who are exome negative
by Shashi, Vandana and Schoch, Kelly and Spillmann, Rebecca and Cope, Heidi and Tan, Queenie K.-G and Walley, Nicole and Pena, Loren and McConkie-Rosell, Allyn and Jiang, Yong-Hui and Stong, Nicholas and Need, Anna C and Goldstein, David B and Adams, David R and Alejandro, Mercedes E and Allard, Patrick and Ashley, Euan A and Azamian, Mahshid S and Bacino, Carlos A and Balasubramanyam, Ashok and Barseghyan, Hayk and Batzli, Gabriel F and Beggs, Alan H and Behnam, Babak and Bellen, Hugo J and Bernstein, Jonathan A and Bican, Anna and Bick, David P and Birch, Camille L and Bonner, Devon and Boone, Braden E and Bostwick, Bret L and Briere, Lauren C and Brown, Donna M and Brush, Matthew and Burke, Elizabeth A and Burrage, Lindsay C and Butte, Manish J and Chen, Shan and Clark, Gary D and Coakley, Terra R and Cogan, Joy D and Cooper, Cynthia M and Cope, Heidi and Craigen, William J and D’Souza, Precilla and Davids, Mariska and Davidson, Jean M and Dayal, Jyoti G and Dell’Angelica, Esteban C and Dhar, Shweta U and Dipple, Katrina M and Donnell-Fink, Laurel A and Dorrani, Naghmeh and Dorset, Daniel C and Douine, Emilie D and Draper, David D and Dries, Annika M and Eckstein, David J and Emrick, Lisa T and Eng, Christine M and Enns, Gregory M and Eskin, Ascia and Esteves, Cecilia and Estwick, Tyra and Fernandez, Liliana and Ferreira, Carlos and Fisher, Paul G and Fogel, Brent L and Friedman, Noah D and Gahl, William A and Glanton, Emily and Godfrey, Rena A and Goldstein, David B and Gould, Sarah E and Gourdine, Jean-Philippe F and Groden, Catherine A and Gropman, Andrea L and Haendel, Melissa and Hamid, Rizwan and Hanchard, Neil A and Handley, Lori H and Herzog, Matthew R and Holm, Ingrid A and Hom, Jason and Howerton, Ellen M and Huang, Yong and Jacob, Howard J and Jain, Mahim and Jiang, Yong-hui and Johnston, Jean M and Jones, Angela L and Koeller, David M and Kohane, Isaac S and Kohler, Jennefer N and Krasnewich, Donna M and Krieg, Elizabeth L and Krier, Joel B and Kyle, Jennifer E and Lalani, Seema R and Lau, C. Christopher and ... and Undiagnosed Dis Network and Undiagnosed Diseases Network
Genetics in Medicine, ISSN 1098-3600, 01/2019, Volume 21, Issue 1, pp. 161 - 172
Purpose: Sixty to seventy-five percent of individuals with rare and undiagnosed phenotypes remain undiagnosed after exome sequencing (ES). With standard ES... 
Rare diseases | Genome sequencing | Undiagnosed diseases | Exome sequencing | Phenotyping | REANALYSIS | VARIANTS | GENETICS & HEREDITY | MEDICAL GENETICS | WHOLE GENOME | whole genome sequencing | rare diseases | undiagnosed diseases | Whole exome sequencing | phenotyping
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14. Full Text Identification of novel candidate genes for 46,XY disorders of sex development (DSD) using a C57BL/6J-Y POS mouse model
by Barseghyan, Hayk and Symon, Aleisha and Zadikyan, Mariam and Almalvez, Miguel and Segura, Eva E and Eskin, Ascia and Bramble, Matthew S and Arboleda, Valerie A and Baxter, Ruth and Nelson, Stanley F and Délot, Emmanuèle C and Harley, Vincent and Vilain, Eric
Biology of Sex Differences, ISSN 2042-6410, 01/2018, Volume 9, Issue 1, pp. 8 - 13
Background: Disorders of sex development (DSD) have an estimated frequency of 0.5% of live births encompassing a variety of urogenital anomalies ranging from... 
Exome | Gonadal dysgenesis | RNA-Seq | 46,XY DSD | Undervirilization | Disorders of sex development |