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A deletion of a novel heat shock gene on the Y chromosome associated with azoospermia.
- Published in:
- Molecular Human Reproduction, 2005, v. 11, n. 4, p. 295, doi. 10.1093/molehr/gah153
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- Publication type:
- Article
Y chromosome microdeletions and germinal mosaicism in infertile males.
- Published in:
- Molecular Human Reproduction, 2000, v. 6, n. 8, p. 688, doi. 10.1093/molehr/6.8.688
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- Publication type:
- Article
Absence of mutations involving the gene in human idiopathic cryptorchidism.
- Published in:
- Molecular Human Reproduction, 2000, v. 6, n. 4, p. 298, doi. 10.1093/molehr/6.4.298
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- Publication type:
- Article
Whole exome sequencing reveals a MLL de novo mutation associated with mild developmental delay and without 'hairy elbows': expanding the phenotype of Wiedemann-Steiner syndrome.
- Published in:
- 2015
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- Publication type:
- Case Study
Prevalence of Deleterious Variants in MC3R in Patients With Constitutional Delay of Growth and Puberty.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2023, v. 108, n. 12, p. e1580, doi. 10.1210/clinem/dgad373
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- Publication type:
- Article
Y chromosome haplogroups: A correlation with testicular dysgenesis syndrome?
- Published in:
- APMIS, 2003, v. 111, n. 1, p. 106, doi. 10.1034/j.1600-0463.2003.11101151.x
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- Publication type:
- Article
Etiology of primary ovarian insufficiency in a series young girls presenting at a pediatric endocrinology center.
- Published in:
- European Journal of Pediatrics, 2015, v. 174, n. 6, p. 767, doi. 10.1007/s00431-014-2457-5
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- Publication type:
- Article
Exome sequencing in 16 patients with pituitary stalk interruption syndrome: A monocentric study.
- Published in:
- PLoS ONE, 2023, v. 18, n. 12, p. 1, doi. 10.1371/journal.pone.0292664
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- Publication type:
- Article
Refining the regulatory region upstream of SOX9 associated with 46,XX testicular disorders of Sex Development (DSD).
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 8, p. 1851, doi. 10.1002/ajmg.a.37101
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- Publication type:
- Article
Genetic evidence of an early exit of Homo sapiens sapiens from Africa through eastern Africa.
- Published in:
- Nature Genetics, 1999, v. 23, n. 4, p. 437, doi. 10.1038/70550
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- Publication type:
- Article
Mutations in the Human ROBO1 Gene in Pituitary Stalk Interruption Syndrome.
- Published in:
- 2017
- By:
- Publication type:
- journal article
AZF microdeletions and partial deletions of AZFc region on the Y chromosome in Moroccan men.
- Published in:
- Asian Journal of Andrology, 2007, v. 9, n. 5, p. 674, doi. 10.1111/j.1745-7262.2007.00290.x
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- Publication type:
- Article
Congenital Hypogonadotropic Hypogonadism during Childhood: Presentation and Genetic Analyses in 46 Boys.
- Published in:
- PLoS ONE, 2013, v. 8, n. 10, p. 1, doi. 10.1371/journal.pone.0077827
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- Publication type:
- Article
Longitudinal Evaluation of the Hypothalamic-Pituitary- Testicular Function in 8 Boys with Adrenal Hypoplasia Congenita (AHC) Due to NR0B1 Mutations.
- Published in:
- PLoS ONE, 2012, v. 7, n. 6, p. 1, doi. 10.1371/journal.pone.0039828
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- Publication type:
- Article
Association of Spermatogenic Failure with the b2/b3 Partial AZFc Deletion.
- Published in:
- PLoS ONE, 2012, v. 7, n. 4, p. 1, doi. 10.1371/journal.pone.0034902
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- Publication type:
- Article
Association of the MTHFR A1298C Variant with Unexplained Severe Male Infertility.
- Published in:
- PLoS ONE, 2012, v. 7, n. 3, p. 1, doi. 10.1371/journal.pone.0034111
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- Publication type:
- Article
Mutation Analysis of NR5A1 Encoding Steroidogenic Factor 1 in 77 Patients with 46, XY Disorders of Sex Development (DSD) Including Hypospadias.
- Published in:
- PLoS ONE, 2011, v. 6, n. 10, p. 1, doi. 10.1371/journal.pone.0024117
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- Publication type:
- Article
Clinical, Biological and Genetic Analysis of Anorchia in 26 Boys.
- Published in:
- PLoS ONE, 2011, v. 6, n. 8, p. 1, doi. 10.1371/journal.pone.0023292
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- Publication type:
- Article
Clinical, Biological and Genetic Analysis of Prepubertal Isolated Ovarian Cyst in 11 Girls.
- Published in:
- PLoS ONE, 2010, v. 5, n. 6, p. 1, doi. 10.1371/journal.pone.0011282
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- Publication type:
- Article
Lack of Association between Genetic Polymorphisms in Enzymes Associated with Folate Metabolism and Unexplained Reduced Sperm Counts.
- Published in:
- PLoS ONE, 2009, v. 4, n. 8, p. 1, doi. 10.1371/journal.pone.0006540
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- Publication type:
- Article
Report of fertility in a woman with a predominantly 46,XY karyotype in a family with multiple disorders of sexual development.
- Published in:
- 2008
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- Publication type:
- journal article
An Analysis of the Genetic Factors Involved in Testicular Descent in a Cohort of 14 Male Patients with Anorchia.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2004, v. 89, n. 12, p. 6282, doi. 10.1210/jc.2004-0891
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- Publication type:
- Article
Inhibin B: A Marker for the Functional State of the Seminiferous Epithelium in Patients with Azoospermia Factor c Microdeletions.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 12, p. 5618, doi. 10.1210/jc.2002-020737
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- Publication type:
- Article
Absence of Mutations Involving the Lim Homeobox Domain Gene LHX9 in 46,XY Gonadal Agenesis and Dysgenesis.
- Published in:
- Journal of Clinical Endocrinology & Metabolism, 2001, v. 86, n. 6, p. 2465, doi. 10.1210/jcem.86.6.7539
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- Publication type:
- Article
Disorders of sex development.
- Published in:
- Middle East Journal of Medical Genetics, 2012, v. 1, n. 1, p. 5, doi. 10.1097/01.MXE.0000407742.94579.b1
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- Publication type:
- Article
Genetics of Differences of Sex Development.
- Published in:
- Sexual Development, 2022, v. 16, n. 2/3, p. 77, doi. 10.1159/000526328
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- Publication type:
- Article
<bold><italic>WT1</italic></bold> Gene Mutation, p.R462W, in a 46,XY DSD Patient from Egypt with Gonadoblastoma and Review of the Literature.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 280, doi. 10.1159/000485394
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- Publication type:
- Article
Aromatase Deficiency due to a Homozygous <bold><italic>CYP19A1</italic></bold> Mutation in a 46,XX Egyptian Patient with Ambiguous Genitalia.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 275, doi. 10.1159/000485278
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- Publication type:
- Article
A Novel Homozygous Missense Mutation in the FU-CRD2 Domain of the<bold><italic> R-spondin1 </italic></bold>Gene Associated with Familial 46,XX DSD.
- Published in:
- Sexual Development, 2017, v. 11, n. 5/6, p. 269, doi. 10.1159/000485393
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- Publication type:
- Article
Novel AMH and AMHR2 Mutations in Two Egyptian Families with Persistent Müllerian Duct Syndrome.
- Published in:
- Sexual Development, 2017, v. 11, n. 1, p. 29, doi. 10.1159/000455019
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- Publication type:
- Article
Mechanism of Sex Determination in Humans: Insights from Disorders of Sex Development.
- Published in:
- Sexual Development, 2016, v. 10, n. 5/6, p. 313, doi. 10.1159/000452637
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- Publication type:
- Article
Identification of NR5A1 Mutations and Possible Digenic Inheritance in 46,XY Gonadal Dysgenesis.
- Published in:
- Sexual Development, 2016, v. 10, n. 3, p. 147, doi. 10.1159/000445983
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- Publication type:
- Article
Homozygous Mutation of the FGFR1 Gene Associated with Congenital Heart Disease and 46,XY Disorder of Sex Development.
- Published in:
- Sexual Development, 2016, v. 10, n. 1, p. 16, doi. 10.1159/000444948
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- Publication type:
- Article
Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.
- Published in:
- PLoS ONE, 2020, v. 15, n. 12, p. 1, doi. 10.1371/journal.pone.0242358
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- Publication type:
- Article
Familial central precocious puberty due to DLK1 deficiency: novel genetic findings and relevance of serum DLK1 levels.
- Published in:
- European Journal of Endocrinology, 2023, v. 189, n. 3, p. 422, doi. 10.1093/ejendo/lvad129
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- Publication type:
- Article
First Study of Microdeletions in the Y Chromosome of Algerian Infertile Men with Idiopathic Oligo- or Azoospermia.
- Published in:
- Urologia Internationalis, 2013, v. 90, n. 4, p. 455, doi. 10.1159/000347046
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- Publication type:
- Article
Rare missense variant in MSH4 associated with primary gonadal failure in both 46, XX and 46, XY individuals.
- Published in:
- 2021
- By:
- Publication type:
- journal article
Analysis of SPINK 5, KLK 7 and FLG Genotypes in a French Atopic Dermatitis Cohort.
- Published in:
- Acta Dermato-Venereologica, 2007, v. 87, n. 6, p. 499, doi. 10.2340/00015555-0329
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- Publication type:
- Article
Clinical, Hormonal and Cytogenetic Evaluation of 46,XX Males and Review of the Literature.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 2005, v. 18, n. 8, p. 739, doi. 10.1515/jpem.2005.18.8.739
- By:
- Publication type:
- Article
Ullrich-Turner Syndrome: Relevance of Searching for Y Chromosome Fragments.
- Published in:
- Journal of Pediatric Endocrinology & Metabolism, 1999, v. 12, n. 6, p. 827, doi. 10.1515/jpem.1999.12.6.827
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- Publication type:
- Article
Transcriptional diversity of DMRT1 (dsx- and mab3-related transcription factor 1) in human testis.
- Published in:
- Cell Research, 2006, v. 16, n. 4, p. 389, doi. 10.1038/sj.cr.7310050
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- Publication type:
- Article
Familial forms of disorders of sex development may be common if infertility is considered a comorbidity.
- Published in:
- BMC Pediatrics, 2016, v. 16, p. 1, doi. 10.1186/s12887-016-0737-0
- By:
- Publication type:
- Article
Y chromosome microdeletions in 'fertile' males.
- Published in:
- 2001
- By:
- Publication type:
- Letter
Sex chromosome mosaicism in males carrying Y chromosome long arm deletions.
- Published in:
- 2000
- By:
- Publication type:
- journal article
Prognostic value of Y deletion analysis.
- Published in:
- Human Reproduction, 2000, v. 15, n. 7, p. 1431, doi. 10.1093/humrep/15.7.1431
- By:
- Publication type:
- Article
Mutations in the FOG2/ZFPM2 gene are associated with anomalies of human testis determination.
- Published in:
- Human Molecular Genetics, 2014, v. 23, n. 14, p. 3657, doi. 10.1093/hmg/ddu074
- By:
- Publication type:
- Article
The Tyr978X BRCA1 mutation: occurrence in non-Jewish Iranians and haplotype in French-Canadian and non-Ashkenazi Jews.
- Published in:
- Familial Cancer, 2005, v. 4, n. 2, p. 85, doi. 10.1007/s10689-004-2101-z
- By:
- Publication type:
- Article
Y-Chromosome Analysis in Egypt Suggests a Genetic Regional Continuity in Northeastern Africa.
- Published in:
- Human Biology, 2002, v. 74, n. 5, p. 645, doi. 10.1353/hub.2002.0054
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- Publication type:
- Article
Novel Genomic Variants, Atypical Phenotypes and Evidence of a Digenic/Oligogenic Contribution to Disorders/Differences of Sex Development in a Large North African Cohort.
- Published in:
- Frontiers in Genetics, 2022, v. 13, p. 1, doi. 10.3389/fgene.2022.900574
- By:
- Publication type:
- Article
Familial early puberty: presentation and inheritance pattern in 139 families.
- Published in:
- BMC Endocrine Disorders, 2016, v. 16, p. 1, doi. 10.1186/s12902-016-0130-x
- By:
- Publication type:
- Article