Disease: Kallmann syndrome- type 1- X-linked
- 46 XX Ovotesticular Disorder of Sex Development with Gonadotropin-Releasing Hormone Receptor, Autosomal Recessive Heterozygous Missense Mutation and Autosomal Dominant Heterozygous Missense Mutation of the <em>PROKR2</em> Gene: A Case Report
- A case of novel mutation in ANOS1 (KAL1) gene and review of Kallmann syndrome
- A clinical case of identical twins with hypogonadotropic hypogonadism, primary empty sella syndrome and identified rare <em>CHD7</em> gene variant
- 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
- A microdeletion del(12)(p11.21p11.23) with a cryptic unbalanced translocation t(7;12)(q21.13;q23.1) implicates new candidate loci for intellectual disability and Kallmann syndrome
- A novel mutation in ANOS1 in a Chinese family with Kallmann syndrome: Case report
- Additional mutation in <em>PROKR2</em> and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying <em>FGFR1</em> missense mutation
- Additional mutation in PROKR2 and phenotypic differences in a Kallmann syndrome/normosmic congenital hypogonadotropic hypogonadism family carrying FGFR1 missense mutation
- Alteration of replication protein A binding mode on single-stranded DNA by NSMF potentiates RPA phosphorylation by ATR kinase
- Bibliometric analysis of scientific publications on cryptorchidism: Research hotspots and trends between 2000 and 2022
- Case report: A case of Culler-Jones syndrome caused by a novel mutation of <em>GLI2</em> gene and literature review
- Case report: An adolescent female with anosmic hypogonadotropic hypogonadism, intellectual disability, and papillary thyroid carcinoma: heterozygous deletion of <em>TCF12</em>
- Case Report: Multiple prolactinomas in a young man with Kallmann syndrome and familial hypocalciuric hypercalcemia
- Case report: Novel SIN3A loss-of-function variant as causative for hypogonadotropic hypogonadism in Witteveen-Kolk syndrome
- CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
- Clinical and molecular features of 40 Chinese patients with idiopathic hypogonadotropic hypogonadism
- Clinical Manifestations, Genetic Variants and Therapeutic Evaluation in Sporadic Chinese Patients with Idiopathic Hypogonadotropic Hypogonadism
- Clinical phenotype of a Kallmann syndrome patient with IL17RD and CPEB4 variants
- Combined gonadotropin therapy to replace mini-puberty in male infants with congenital hypogonadotropic hypogonadism
- Congenital hypogonadotrophic hypogonadism, induction of minipuberty, and future fertility
- Congenital hypogonadotropic hypogonadism in a patient with a de novo POGZ mutation
- Contributions of common genetic variants to constitutional delay of puberty and idiopathic hypogonadotropic hypogonadism
- Coordination of canonical and noncanonical Hedgehog signalling pathways mediated by WDR11 during primordial germ cell development
- Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome
- Diagnosis and genetic analysis of a case of Waardenburg syndrome type 2 with hypogonadotropic hypogonadism caused by <em>SOX10</em> gene deletion
- Digenic Congenital Hypogonadotropic Hypogonadism Due to Heterozygous <em>GNRH1</em> p.R31C and <em>AMHR2</em> p.G445_L453del Variants
- Epiphysiolysis in a 22-year-old Patient with Congenital Hypogonadotropic Hypogonadism: Case Report
- Fertility outcomes in male adults with congenital hypogonadotropic hypogonadism treated during puberty with human chorionic gonadotropin and recombinant follicle stimulating hormone
- From Nose to Lumbar Spinal Cord - Reduced Sperm Numbers Occur by Olfactory Bulbectomy-Related Onuf's Nucleus Degeneration: New Experimental Evidence for Kallmann Syndrome
- From Nose to Lumbar Spinal Cord; Reduced Sperm Numbers occur by Olfactory Bulbectomy-releted Onuf's Nucleus Degeneration; New Experimental Evidence for Kallmann Syndrome
- Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series
- Genetic Variability of SOX10-Related Disorders within an Italian Family: Straddling the Line between Kallmann and Waardenburg Syndrome
- Gonadotropin treatment of cryptorchidism in congenital hypogonadotropic hypogonadism-Age is no limit?
- Gonadotropins for pubertal induction in males with hypogonadotropic hypogonadism: systematic review and meta-analysis
- Hypogonadotropic hypogonadism with Zinner syndrome: a coincidence or a consequence?
- Idiopathic hypogonadotropic hypogonadism caused by compound heterozygosity for two novel mutations in the GNRH1 gene: a case report
- Illuminating the Terminal Nerve: Uncovering the Link between GnRH-1 and Olfactory Development
- Illuminating the terminal nerve: Uncovering the link between GnRH-1 neuron and olfactory development
- Indications for genetic diagnosis in children with growth hormone deficiency and born small for gestational age
- Kallmann Syndrome
- Key features of puberty onset and progression can help distinguish self-limited delayed puberty from congenital hypogonadotrophic hypogonadism
- Mini-Puberty, Physiological and Disordered: Consequences, and Potential for Therapeutic Replacement
- Missense mutation of SPRY4 gene in Kallmann syndrome: a case report
- Mixed hypogonadism: a neglected combined form of hypogonadism
- Olfactory function and olfactory bulbs in patients with Kallmann syndrome
- Orchiopexy
- Outcomes and experiences of adults with congenital hypogonadism can inform improvements in the management of delayed puberty
- Prenatal identification of a pathogenic maternal <em>FGFR1</em> variant in two consecutive pregnancies with fetal forebrain malformations
- Prevalence of pathogenic variants and digenic disease in patients diagnosed with normosmic hypogonadotropic hypogonadism/Kallmann Syndrome
- Pubertal induction with gonadotropins in an adult male with Kallmann syndrome
- Smelling TNT: Trends of the Terminal Nerve
- The "Sniffin' Kids-PT" test: A smell test variant for Portuguese children
- Unusual coexistence of restrictive heart disease and Kallmann syndrome: a case report
- What Are the Best Practices for Co-Creating Patient-Facing Educational Materials? A Scoping Review of the Literature
- Why should orchidopexy be performed in congenital hypogonadotropic hypogonadism, and when?