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WDR11‐mediated Hedgehog signalling defects underlie a new ciliopathy related to Kallmann syndrome.
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- EMBO Reports, 2018, v. 19, n. 2, p. 269, doi. 10.15252/embr.201744632
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- Publication type:
- Article
Copy number variation and regions of homozygosity analysis in patients with MÜLLERIAN aplasia.
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- Molecular Cytogenetics (17558166), 2018, v. 11, p. 1, doi. 10.1186/s13039-018-0359-3
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- Publication type:
- Article
Berberine Inhibits Uterine Leiomyoma Cell Proliferation via Downregulation of Cyclooxygenase 2 and Pituitary Tumor-Transforming Gene 1.
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- Reproductive Sciences, 2017, v. 24, n. 7, p. 1005, doi. 10.1177/1933719116675055
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- Publication type:
- Article
The Molecular Basis of Impaired Follicle-Stimulating Hormone Action: Evidence From Human Mutations and Mouse Models.
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- Reproductive Sciences, 2013, v. 20, n. 3, p. 211, doi. 10.1177/1933719112461184
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- Publication type:
- Article
Rare structural variants, aneuploidies, and mosaicism in individuals with Mullerian aplasia detected by optical genome mapping.
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- Human Genetics, 2023, v. 142, n. 4, p. 483, doi. 10.1007/s00439-023-02522-8
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- Publication type:
- Article
Genetics of agenesis/hypoplasia of the uterus and vagina: narrowing down the number of candidate genes for Mayer–Rokitansky–Küster–Hauser Syndrome.
- Published in:
- Human Genetics, 2021, v. 140, n. 4, p. 667, doi. 10.1007/s00439-020-02239-y
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- Publication type:
- Article
Macrocephaly and Digital Anomalies Expand the Phenotypic Spectrum of PGAP2 Variants in Hyperphosphatasia with Impaired Intellectual Development Syndrome 3 (HPMRS3).
- Published in:
- Human Mutation, 2024, p. 1, doi. 10.1155/2024/5518289
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- Publication type:
- Article
MicroRNA-223 Expression Is Upregulated in Insulin Resistant Human Adipose Tissue.
- Published in:
- Journal of Diabetes Research, 2015, v. 2015, p. 1, doi. 10.1155/2015/943659
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- Publication type:
- Article
Identification of two novel autism genes, TRPC4 and SCFD2, in Qatar simplex families through exome sequencing.
- Published in:
- Frontiers in Psychiatry, 2023, p. 1, doi. 10.3389/fpsyt.2023.1251884
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- Publication type:
- Article
A rigorous in silico genomic interrogation at 1p13.3 reveals 16 autosomal dominant candidate genes in syndromic neurodevelopmental disorders.
- Published in:
- Frontiers in Molecular Neuroscience, 2022, v. 16, p. 1, doi. 10.3389/fnmol.2022.979061
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- Publication type:
- Article
Expanding the Spectrum of Founder Mutations Causing Isolated Gonadotropin-Releasing Hormone Deficiency.
- Published in:
- 2015
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- Publication type:
- journal article
The expression of the miR-25/93/106b family of micro-RNAs in the adipose tissue of women with polycystic ovary syndrome.
- Published in:
- 2014
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- Publication type:
- journal article
Clinical genetic testing for Kallmann syndrome.
- Published in:
- 2013
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- Publication type:
- editorial
Liquid chromatography-tandem mass spectrometry analysis of human adrenal vein 19-carbon steroids before and after ACTH stimulation.
- Published in:
- 2013
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- Publication type:
- journal article
A Mutation in the Fibroblast Growth Factor Receptor 1 Gene Causes Fully Penetrant Normosmic Isolated Hypogonadotropic Hypogonadism.
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- Journal of Clinical Endocrinology & Metabolism, 2007, v. 92, n. 3, p. 1155, doi. 10.1210/jc.2006-1183
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- Publication type:
- Article
Editorial: BMP15—The First True Ovarian Determinant Gene on the X-Chromosome?
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- Journal of Clinical Endocrinology & Metabolism, 2006, v. 91, n. 5, p. 1673, doi. 10.1210/jc.2006-0548
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- Publication type:
- Article
FSHβ Gene Mutations in a Female with Partial Breast Development and a Male Sibling with Normal Puberty and Azoospermia.
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- Journal of Clinical Endocrinology & Metabolism, 2002, v. 87, n. 8, p. 3702, doi. 10.1210/jcem.87.8.8724
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- Publication type:
- Article
Mutational Analysis of DAX1 in Patients with Hypogonadotropic Hypogonadism or Pubertal Delay.
- Published in:
- 1999
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- Publication type:
- journal article
Endogenous estradiol contributes to vascular endothelial dysfunction in premenopausal women with type 1 diabetes.
- Published in:
- Cardiovascular Diabetology, 2023, v. 22, n. 1, p. 1, doi. 10.1186/s12933-023-01966-6
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- Publication type:
- Article
Clinical Manifestations of Impaired GnRH Neuron Development and Function.
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- NeuroSignals (Karger AG), 2008, v. 16, n. 2/3, p. 165, doi. 10.1159/000111561
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- Publication type:
- Article
The Use of Whole Exome Sequencing in a Cohort of Transgender Individuals to Identify Rare Genetic Variants.
- Published in:
- Scientific Reports, 2019, v. 9, n. 1, p. 1, doi. 10.1038/s41598-019-53500-y
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- Publication type:
- Article
Genetic Spectrum of Syndromic and Non-Syndromic Hearing Loss in Pakistani Families.
- Published in:
- Genes, 2020, v. 11, n. 11, p. 1329, doi. 10.3390/genes11111329
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- Publication type:
- Article
Autoantibodies against the FSH receptor: association or causation?
- Published in:
- 2004
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- Publication type:
- Editorial
The role of LH and FSH in ovarian androgen secretion and ovarian follicular development: clinical studies in a patient with isolated FSH deficiency and multicystic ovaries.
- Published in:
- 2002
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- Publication type:
- journal article
Comparative Genomic Mapping Implicates LRRK2 for Intellectual Disability and Autism at 12q12, and HDHD1, as Well as PNPLA4, for X-Linked Intellectual Disability at Xp22.31.
- Published in:
- Journal of Clinical Medicine, 2020, v. 9, n. 1, p. 274, doi. 10.3390/jcm9010274
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- Publication type:
- Article
Spectrum of genes involved in a unique case of Potocki Schaffer syndrome with a large chromosome 11 deletion.
- Published in:
- Clinical Neuropathology, 2014, v. 33, n. 3, p. 238, doi. 10.5414/NP300691
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- Publication type:
- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
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- Publication type:
- Article
A cryptic microdeletion del(12)(p11.21p11.23) within an unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome.
- Published in:
- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-40037-4
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- Publication type:
- Article
Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development.
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- Scientific Reports, 2023, v. 13, n. 1, p. 1, doi. 10.1038/s41598-023-38017-9
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- Publication type:
- Article
Contribution of copy number variants involving nonsense-mediated mRNA decay pathway genes to neuro-developmental disorders.
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- Human Molecular Genetics, 2013, v. 22, n. 9, p. 1816, doi. 10.1093/hmg/ddt035
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- Publication type:
- Article
The prevalence of intragenic deletions in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome.
- Published in:
- Molecular Human Reproduction, 2008, v. 14, n. 6, p. 367, doi. 10.1093/molehr/gan027
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- Publication type:
- Article
KAL1 mutations are not a common cause of idiopathic hypogonadotrophic hypogonadism in humans.
- Published in:
- Molecular Human Reproduction, 2007, v. 13, n. 3, p. 25, doi. 10.1093/molehr/gal108
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- Publication type:
- Article
Long-Term Follow-Up and Treatment of a Female With Complete Estrogen Insensitivity.
- Published in:
- 2020
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- Publication type:
- journal article
miRNA-93 Inhibits GLUT4 and Is Overexpressed in Adipose Tissue of Polycystic Ovary Syndrome Patients and Women With Insulin Resistance.
- Published in:
- Diabetes, 2013, v. 62, n. 7, p. 2278, doi. 10.2337/db12-0963
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- Publication type:
- Article
Use of denaturing gradient gel blots to screen for point mutations in the factor VIII gene.
- Published in:
- Human Mutation, 1998, v. 12, n. 6, p. 393, doi. 10.1002/(SICI)1098-1004(1998)12:6<393::AID-HUMU5>3.0.CO;2-A
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- Publication type:
- Article
A microdeletion at Xq22.2 implicates a glycine receptor GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies.
- Published in:
- 2016
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- Publication type:
- journal article
Steric Clash in the SET Domain of Histone Methyltransferase NSD1 as a Cause of Sotos Syndrome and Its Genetic Heterogeneity in a Brazilian Cohort.
- Published in:
- Genes, 2016, v. 7, n. 11, p. 96, doi. 10.3390/genes7110096
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- Publication type:
- Article
A balanced chromosomal translocation involving chromosomes 3 and 16 in a patient with Mayer-Rokitansky-Kuster-Hauser syndrome reveals new candidate genes at 3p22.3 and 16p13.3.
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0264-6
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- Publication type:
- Article
Comparative deletion mapping at 1p31.3-p32.2 implies NFIA responsible for intellectual disability coupled with macrocephaly and the presence of several other genes for syndromic intellectual disability.
- Published in:
- Molecular Cytogenetics (17558166), 2016, v. 9, p. 1, doi. 10.1186/s13039-016-0234-z
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- Publication type:
- Article
Long-term follow-up of females with unbalanced X;Y translocations--reproductive and nonreproductive consequences.
- Published in:
- Molecular Cytogenetics (17558166), 2015, v. 8, n. 1, p. 1, doi. 10.1186/s13039-015-0112-0
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- Publication type:
- Article
Twenty‐year follow‐up of the facial phenotype of Brazilian patients with Sotos syndrome.
- Published in:
- American Journal of Medical Genetics. Part A, 2021, v. 185, n. 12, p. 3916, doi. 10.1002/ajmg.a.62454
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- Publication type:
- Article
A Microdeletion Encompassing PHF21A in an Individual with Global Developmental Delay and Craniofacial Anomalies.
- Published in:
- American Journal of Medical Genetics. Part A, 2015, v. 167A, n. 12, p. 3011, doi. 10.1002/ajmg.a.37344
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- Publication type:
- Article
The historical Coffin-Lowry syndrome family revisited: Identification of two novel mutations of RPS6KA3 in three male patients.
- Published in:
- American Journal of Medical Genetics. Part A, 2014, v. 164A, n. 9, p. 2172, doi. 10.1002/ajmg.a.36488
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- Publication type:
- Article
Evidence of Sex Differences in the Endothelin Pathway in Diabetes.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R4529
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- Publication type:
- Article
Impact of Estrogen and Hormonal Birth Control on Vascular Function in Premenopausal Women with Type 1 Diabetes.
- Published in:
- FASEB Journal, 2022, v. 36, p. N.PAG, doi. 10.1096/fasebj.2022.36.S1.R5458
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- Publication type:
- Article
Febrile and Infectious Morbidity After Laparotomy for Ectopic Pregnancy: Potential for Antibiotic Prophylaxis.
- Published in:
- Journal of Gynecologic Surgery, 1990, v. 6, n. 3, p. 161, doi. 10.1089/gyn.1990.6.161
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- Publication type:
- Article
Exome sequencing reveals neurodevelopmental genes in simplex consanguineous Iranian families with syndromic autism.
- Published in:
- BMC Medical Genomics, 2024, v. 17, n. 1, p. 1, doi. 10.1186/s12920-024-01969-6
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- Publication type:
- Article