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Calsequestrin, a key protein in striated muscle health and disease.
- Published in:
- Journal of Muscle Research & Cell Motility, 2021, v. 42, n. 2, p. 267, doi. 10.1007/s10974-020-09583-6
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- Publication type:
- Article
Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome.
- Published in:
- Cell Death Discovery, 2024, v. 10, n. 1, p. 1, doi. 10.1038/s41420-024-02074-4
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- Publication type:
- Article
A novel PNPLA6 mutation in a Turkish family with intractable Holmes tremor and spastic ataxia.
- Published in:
- Neurological Sciences, 2021, v. 42, n. 4, p. 1535, doi. 10.1007/s10072-020-04869-6
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- Article
Mosaic trisomy 13 and constitutional delay in puberty.
- Published in:
- Oxford Medical Case Reports, 2022, v. 2022, n. 5, p. 1, doi. 10.1093/omcr/omac046
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- Publication type:
- Article
Endocrine complications of anorexia nervosa.
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- Journal of Eating Disorders, 2023, v. 11, n. 1, p. 1, doi. 10.1186/s40337-023-00744-9
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- Publication type:
- Article
Nasal Reconstruction in a Rare Case of Unilateral Arhinia in Bosma Arhinia Microphthalmia Syndrome.
- Published in:
- Turkish Journal of Plastic Surgery, 2024, v. 32, n. 1, p. 38, doi. 10.4103/tjps.tjps_53_23
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- Publication type:
- Article
Oligogenic Inheritance Underlying Incomplete Penetrance of PROKR2 Mutations in Hypogonadotropic Hypogonadism.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.665174
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- Publication type:
- Article
Case Report: A Novel Mutation in NFKB1 Associated With Pyoderma Gangrenosum.
- Published in:
- Frontiers in Genetics, 2021, v. 12, p. 1, doi. 10.3389/fgene.2021.673453
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- Publication type:
- Article
Abstract 50: Kallmann syndrome: Case report.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2022, v. 26, p. 21, doi. 10.4103/2230-8210.363738
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- Publication type:
- Article
Correlation of Olfactory Phenotype by Indian Smell Identification Test and Quantitative MRI of Olfactory Apparatus in Idiopathic Hypogonadotropic Hypogonadism.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 3, p. 367, doi. 10.4103/ijem.IJEM_28_19
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- Publication type:
- Article
Reversible Kallmann Syndrome: Rare Yet Real.
- Published in:
- Indian Journal of Endocrinology & Metabolism, 2019, v. 23, n. 3, p. 382, doi. 10.4103/ijem.IJEM_199_19
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- Publication type:
- Article
Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome.
- Published in:
- 2015
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- Publication type:
- Abstract
A Hypogonadotropic Hypogonadism Case as a Consequence of GNRHR Mutation.
- Published in:
- 2015
- By:
- Publication type:
- Case Study
Olfactory Sulcus Hypoplasia Images in a Case of Kallmann Syndrome.
- Published in:
- Journal of Clinical Research in Pediatric Endocrinology, 2015, v. 7, p. 49
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- Publication type:
- Article
SOX10 mutations mimic isolated hearing loss.
- Published in:
- Clinical Genetics, 2015, v. 88, n. 4, p. 352, doi. 10.1111/cge.12506
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- Publication type:
- Article
CHD7 mutations in patients initially diagnosed with Kallmann syndrome – the clinical overlap with CHARGE syndrome.
- Published in:
- Clinical Genetics, 2009, v. 75, n. 1, p. 65, doi. 10.1111/j.1399-0004.2008.01107.x
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- Publication type:
- Article
New findings in oligogenic inheritance of congenital hypogonadotropic hypogonadism.
- Published in:
- 2022
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- Publication type:
- journal article
Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age.
- Published in:
- Pediatric Endocrinology, Diabetes & Metabolism, 2024, v. 30, n. 2, p. 51, doi. 10.5114/pedm.2024.140998
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- Publication type:
- Article
Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.
- Published in:
- 2017
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- Publication type:
- journal article
Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life.
- Published in:
- Orphanet Journal of Rare Diseases, 2015, v. 10, n. 1, p. 1, doi. 10.1186/s13023-015-0287-9
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- Publication type:
- Article
Cortical interneuron development is affected in 4H leukodystrophy.
- Published in:
- Brain: A Journal of Neurology, 2023, v. 146, n. 7, p. 2846, doi. 10.1093/brain/awad017
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- Publication type:
- Article
Compromised Volumetric Bone Density and Microarchitecture in Men With Congenital Hypogonadotropic Hypogonadism.
- Published in:
- 2021
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- Publication type:
- journal article
Does Genetic Susceptibility of the Gonadotropic Axis Explain the Variable Impact of Stressors Causing Functional Hypothalamic Amenorrhea?
- Published in:
- 2021
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- Publication type:
- journal article
Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
- Published in:
- 2020
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- Publication type:
- journal article
A Balanced Translocation in Kallmann Syndrome Implicates a Long Noncoding RNA, RMST, as a GnRH Neuronal Regulator.
- Published in:
- 2019
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- Publication type:
- journal article
Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.
- Published in:
- International Journal of Molecular Sciences, 2023, v. 24, n. 8, p. 7428, doi. 10.3390/ijms24087428
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- Publication type:
- Article
Mechanisms of Central Hypogonadism.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 15, p. 8217, doi. 10.3390/ijms22158217
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- Publication type:
- Article
A Sprouty4 Mutation Identified in Kallmann Syndrome Increases the Inhibitory Potency of the Protein towards FGF and Connected Processes.
- Published in:
- International Journal of Molecular Sciences, 2021, v. 22, n. 4, p. 2145, doi. 10.3390/ijms22042145
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- Publication type:
- Article
A de novo variant of POLR3B causes demyelinating Charcot-Marie-Tooth disease in a Chinese patient: a case report.
- Published in:
- 2021
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- Publication type:
- journal article
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
- Published in:
- BMC Endocrine Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12902-022-00940-9
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- Publication type:
- Article
Clinical, hormonal, and genetic characteristics of 25 Chinese patients with idiopathic hypogonadotropic hypogonadism.
- Published in:
- BMC Endocrine Disorders, 2022, v. 22, n. 1, p. 1, doi. 10.1186/s12902-022-00940-9
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- Publication type:
- Article
A novel heterozygous mutation of CHD7 gene in a Chinese patient with Kallmann syndrome: a case report.
- Published in:
- BMC Endocrine Disorders, 2021, v. 21, n. 1, p. 1, doi. 10.1186/s12902-021-00836-0
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- Publication type:
- Article
Decreased FGF8 signaling causes deficiency of gonadotropin-releasing hormone in humans and mice.
- Published in:
- 2008
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- Publication type:
- journal article
Digenic mutations account for variable phenotypes in idiopathic hypogonadotropic hypogonadism.
- Published in:
- 2007
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- Publication type:
- journal article
Early correction of synaptic long-term depression improves abnormal anxiety-like behavior in adult GluN2B-C456Y-mutant mice.
- Published in:
- PLoS Biology, 2020, v. 18, n. 4, p. 1, doi. 10.1371/journal.pbio.3000717
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- Publication type:
- Article
Two females presenting primary amenorrhea diagnosed with Kallmann syndrome caused by novel FGFR1 variants.
- Published in:
- Journal of Obstetrics & Gynaecology Research, 2021, v. 47, n. 10, p. 3727, doi. 10.1111/jog.14966
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- Publication type:
- Article
Gender-Diverse Youth with Turner Syndrome: Special Management Considerations.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 5, p. 1, doi. 10.1210/jcemcr/luae076
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- Publication type:
- Article
A Challenging Case of Diabetes in a Patient With XXYY Syndrome.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 4, p. 1, doi. 10.1210/jcemcr/luae014
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- Publication type:
- Article
Hypergonadotropic Hypogonadism Due to Transaldolase Deficiency: Two Cases and Literature Review.
- Published in:
- JCEM Case Reports, 2024, v. 2, n. 3, p. 1, doi. 10.1210/jcemcr/luae028
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- Publication type:
- Article
P-51 Association of Bardet-Biedl syndrome with differences of sex development and pituitary hypoplasia.
- Published in:
- JCEM Case Reports, 2024, v. 2, p. 1, doi. 10.1210/jcemcr/luad146.053
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- Publication type:
- Article
CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct.
- Published in:
- Human Genetics, 2023, v. 142, n. 10, p. 1499, doi. 10.1007/s00439-023-02581-x
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- Publication type:
- Article
TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy.
- Published in:
- Human Genetics, 2021, v. 140, n. 12, p. 1709, doi. 10.1007/s00439-021-02379-9
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- Publication type:
- Article
Causal influences of neuroticism on mental health and cardiovascular disease.
- Published in:
- Human Genetics, 2021, v. 140, n. 9, p. 1267, doi. 10.1007/s00439-021-02288-x
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- Publication type:
- Article
Genetics of congenital hypogonadotropic hypogonadism: peculiarities and phenotype of an oligogenic disease.
- Published in:
- Human Genetics, 2021, v. 140, n. 1, p. 77, doi. 10.1007/s00439-020-02147-1
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- Publication type:
- Article
Ataxia and Hypogonadism: a Review of the Associated Genes and Syndromes.
- Published in:
- Cerebellum, 2024, v. 23, n. 2, p. 688, doi. 10.1007/s12311-023-01549-x
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- Publication type:
- Article
Changes in antral follicle count and ovarian volume with age.
- Published in:
- Journal of Experimental & Clinical Medicine / Deneysel ve Klinik Tip Dergisi, 2018, v. 35, n. 3, p. 57, doi. 10.5835/jecm.omu.35.03.001
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- Publication type:
- Article
Twin pregnancy in a woman with hypogonadotropic hypogonadism and uterus didelphys: A case report and literature review.
- Published in:
- Journal of Experimental & Clinical Medicine / Deneysel ve Klinik Tip Dergisi, 2018, v. 35, n. 2, p. 53, doi. 10.5835/jecm.omu.35.02.006
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- Publication type:
- Article
Analysis of PLXNA1, NRP1, and NRP2 variants in a cohort of patients with isolated hypogonadotropic hypogonadism.
- Published in:
- Molecular Genetics & Genomic Medicine, 2021, v. 9, n. 11, p. 1, doi. 10.1002/mgg3.1816
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- Publication type:
- Article
CHD7 missense variants and clinical characteristics of Chinese males with infertility.
- Published in:
- Molecular Genetics & Genomic Medicine, 2020, v. 8, n. 9, p. 1, doi. 10.1002/mgg3.1372
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- Publication type:
- Article
Novel FGFR1 and KISS1R Mutations in Chinese Kallmann Syndrome Males with Cleft Lip/Palate.
- Published in:
- BioMed Research International, 2015, v. 2015, p. 1, doi. 10.1155/2015/649698
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- Publication type:
- Article