• A case of hypopituitarism accompanying Kearns-Sayre syndrome treated with human chorionic gonadotropin: A case report and literature review
• 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 De Novo <em>POLD1</em> Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
• A De Novo POLD1 Mutation Associated With Mandibular Hypoplasia, Deafness, Progeroid Features, and Lipodystrophy Syndrome in a Family With Werner Syndrome
• A novel splice site mutation in gene C2orf37 underlying Woodhouse-Sakati syndrome (WSS) in a consanguineous family of Pakistani origin
• A novel syndrome of mandibular hypoplasia, deafness, and progeroid features associated with lipodystrophy, undescended testes, and male hypogonadism
• Acute myeloid leukemia associated with CHARGE syndrome
• Alopecia and hypotrichosis as characteristic findings in Woodhouse-Sakati syndrome: report of a family with mutation in the C2orf37 gene
• An adult patient with 49, XXXXY syndrome: further clinical and biological delineation
• An Egyptian family with H syndrome due to a novel mutation in SLC29A3 illustrating overlapping features with pigmented hypertrichotic dermatosis with insulin-dependent diabetes and Faisalabad histiocytosis
• An in-frame deletion at the polymerase active site of POLD1 causes a multisystem disorder with lipodystrophy
• Anosmia predicts hypogonadotropic hypogonadism in CHARGE syndrome
• Association of Wolfram syndrome with Fallot tetralogy in a girl
• Atypical phenotypes associated with pathogenic CHD7 variants and a proposal for broadening CHARGE syndrome clinical diagnostic criteria
• Atypical presentations of Wolframs syndrome
• C2orf37 mutational spectrum in Woodhouse-Sakati syndrome patients
• Camurati-Engelmann disease: unique variant featuring a novel mutation in TGFβ1 encoding transforming growth factor beta 1 and a missense change in TNFSF11 encoding RANK ligand
• Case Report: A Chinese Family of Woodhouse-Sakati Syndrome With Diabetes Mellitus, With a Novel Biallelic Deletion Mutation of the DCAF17 Gene
• CHARGE syndrome as unusual cause of hypogonadism: endocrine and molecular evaluation
• CHD7 mutations and CHARGE syndrome: the clinical implications of an expanding phenotype
• CHD7 variants associated with hearing loss and enlargement of the vestibular aqueduct
• CHD8 interacts with CHD7, a protein which is mutated in CHARGE syndrome
• Chromatin remodeling by the CHD7 protein is impaired by mutations that cause human developmental disorders
• Ciliopathy--cause of several peculiar syndromes
• Clinical data and genetic mutation in Kallmann syndrome with CHARGE syndrome: Case report and pedigree analysis
• Clinical Peculiarities in a Cohort of Patients with Wolfram Syndrome 1
• Clinical profile of coexisting conditions in type 1 diabetes mellitus patients
• Clinical, endocrinological, and molecular characterization of Kallmann syndrome and normosmic idiopathic hypogonadotropic hypogonadism: a single center experience
• Clinical, Histochemical, and Molecular Study of Three Turkish Siblings Diagnosed with H Syndrome, and Literature Review
• Combined pituitary hormone deficiency harboring CHD7 gene missense mutation without CHARGE syndrome: a case report
• Congenital diseases and semaphorin signaling: overview to date of the evidence linking them
• Congenital hypogonadotropic hypogonadism during childhood: presentation and genetic analyses in 46 boys
• De novo SOX10 Nonsense Mutation in a Patient with Kallmann Syndrome, Deafness, Iris Hypopigmentation, and Hyperthyroidism
• De Sanctis-Cacchione Syndrome with Subdural Effusion: A Rare Case from India with Review of Literature
• Delayed puberty due to a novel mutation in CHD7 causing CHARGE syndrome
• Dental agenesis in Kallmann syndrome individuals with FGFR1 mutations
• Detecting novel mutations and combined Klinefelter syndrome in Usher syndrome cases
• Discovery of a large deletion of KAL1 in 2 deaf brothers
• DNA methylation episignature, extension of the clinical features, and comparative epigenomic profiling of Hao-Fountain syndrome caused by variants in USP7
• Endocrine disorders in Woodhouse-Sakati syndrome: a systematic review of the literature
• Evaluating CHARGE syndrome in congenital hypogonadotropic hypogonadism patients harboring CHD7 variants
• Expanding the CHARGE Geno-Phenotype: A Girl with Novel CHD7 Deletion, Hypogonadotropic Hypogonadism, and Agenesis of Uterus and Ovaries
• Expanding the reproductive organ phenotype of CHD7-spectrum disorder
• Familial case of hypogonadotropic hypogonadism as the CHARGE syndrome manifestation
• Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness
• Functionally compromised CHD7 alleles in patients with isolated GnRH deficiency
• Gene screening facilitates diagnosis of complicated symptoms: A case report
• Glomerular involvement in children with H syndrome
• H syndrome treated with Tocilizumab: two case reports and literature review
• H syndrome: Clinical, histological and genetic investigation in Tunisian patients
• Hereditary syndrome associated with diabetes mellitus
• How do you monitor the patient with Turner's syndrome in adulthood?
• HUWE1 mutations in Juberg-Marsidi and Brooks syndromes: the results of an X-chromosome exome sequencing study
• Hyperglycemia with hypogonadism and growth hormone deficiency in a 17-year-old male with H syndrome: the first case report from Syria
• Hypogonadotropic hypogonadism in women
• Kallmann syndrome and deafness: an uncommon combination: A case report and a literature review
• Kallmann Syndrome Due to Heterozygous Mutation in <em>SOX10</em> Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature
• Kallmann Syndrome Due to Heterozygous Mutation in SOX10 Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature
• Kallmann syndrome with deafness caused by SOX10 mutation: Advances in research
• Loss-of-function mutations in SOX10 cause Kallmann syndrome with deafness
• Loss-of-Function SOX10 Mutation in a Patient with Kallmann Syndrome, Hearing Loss, and Iris Hypopigmentation
• Molecular genetic and clinical delineation of 22 patients with congenital hypogonadotropic hypogonadism
• Natural history and clinical characteristics of 50 patients with Wolfram syndrome
• Newly recognized recessive syndrome characterized by dysmorphic features, hypogonadotropic hypogonadism, severe microcephaly, and sensorineural hearing loss maps to 3p21.3
• Nonsense mutations in FGF8 gene causing different degrees of human gonadotropin-releasing deficiency
• Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model
• Novel Mutations of the ALMS1 Gene in Patients with Alstrom Syndrome
• Ophthalmologic Findings in H Syndrome: A Unique Diagnostic Clue
• Paediatric Wolfram syndrome Type 1: should gonadal dysfunction be part of the diagnostic criteria?
• Perrault syndrome - a rare case report
• Perrault syndrome with amenorrhea, infertility, Tarlov cyst, and degenerative disc
• Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome
• Phenotypic Spectrum of Idiopathic Hypogonadotropic Hypogonadism Patients With CHD7 Variants From a Large Chinese Cohort
• Phenotypic spectrum of patients with mutations in CHD7: clinical implications of endocrinological findings
• Phenotypic Variability of c.436delC DCAF17 Gene Mutation in Woodhouse-Sakati Syndrome
• Previously unreported abnormalities in Wolfram Syndrome Type 2
• Rarer syndromes characterized by hypogonadotropic hypogonadism
• Renal Involvement in H Syndrome, A Rare Cause of Diabetes Mellitus: Case Report
• Reproduction, smell, and neurodevelopmental disorders: genetic defects in different hypogonadotropic hypogonadal syndromes
• Reproductive dysfunction and decreased GnRH neurogenesis in a mouse model of CHARGE syndrome
• Reproductive endocrine phenotypes relating to CHD7 mutations in humans
• Sema3a plays a role in the pathogenesis of CHARGE syndrome
• Structural pituitary abnormalities associated with CHARGE syndrome
• Study of smell and reproductive organs in a mouse model for CHARGE syndrome
• Suprameatal Cochlear Implantation in a CHARGE Patient With a Novel CHD7 Variant and KALLMANN Syndrome Phenotype: A Case Report
• Targeted Next-Generation Sequencing Identifies Separate Causes of Hearing Loss in One Deaf Family and Variable Clinical Manifestations for the p.R161C Mutation in <em>SOX10</em>
• The olfactory system
• The prevalence of CHD7 missense versus truncating mutations is higher in patients with Kallmann syndrome than in typical CHARGE patients
• The results of CHD7 analysis in clinically well-characterized patients with Kallmann syndrome
• The role of CHD7 and the newly identified WDR11 gene in patients with idiopathic hypogonadotropic hypogonadism and Kallmann syndrome
• The Tip of the Iceberg in Maternally Inherited Diabetes and Deafness
• Transition in endocrinology: induction of puberty
• TUBB3 Arg262His causes a recognizable syndrome including CFEOM3, facial palsy, joint contractures, and early-onset peripheral neuropathy
• Wolfram Syndrome 1: A Pediatrician's and Pediatric Endocrinologist's Perspective
• Wolfram syndrome in a young woman with associated hypergonadotropic hypogonadism - A case report
• Wolfram syndrome: clinical and genetic profiling of a cohort from a tertiary care centre with characterization of the primary gonadal failure
• Woodhouse-Sakati Syndrome Presenting With Psychotic Features After Starting Trihexyphenidyl: A Case Report
• Writer's Cramp Presentation of Woodhouse-Sakati Syndrome - "Out of the Woods"
• X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&amp;gt;C mutation in the ATRX gene
• X-linked mental retardation-hypotonic facies syndrome: Exome sequencing identifies novel clinical characteristics associated with c.5182G&gt;C mutation in the ATRX gene