• A case of congenital lamellar ichthyosis, alopecia universalis and hypohidrosis with psychomotor retardation and epilepsy. Rud syndrome?
• A case of Rud's syndrome
• A case of Rud's syndrome
• A case of Rud's syndrome. A rare form of nonbullous congenital ichthyosiform erythroderma
• A familial X/Y translocation in a boy with ichthyosis, hypogonadism and mental retardation
• A family with X-linked ichthyosis and hypogonadism
• A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C
• A novel mutation in the C7orf11 gene causes nonphotosensitive trichothiodystrophy in a multiplex highly consanguineous kindred
• A Sphingosine-1-Phosphate Lyase Mutation Associated With Congenital Nephrotic Syndrome and Multiple Endocrinopathy
• A syndrome of congenital ichthyosis, hypogonadism, small stature, facial dysmorphism, scoliosis and myogenic dystrophy
• A UV-specific endonucleolytic activity present in human cell extracts
• An atypical contiguous gene syndrome: molecular studies in a family with X-linked Kallmann's syndrome and X-linked ichthyosis
• Analysis of an interstitial deletion in a patient with Kallmann syndrome, X-linked ichthyosis and mental retardation
• Andrologic studies in patients with X-chromosome recessive ichthyosis
• Association of isolated adrenocorticotropin deficiency with a variety of neuro-somatic abnormalities in congenital facial diplegia (Moebius) syndrome
• Classification of neuroichthyosis
• Clinical spectrum of steroid sulfatase deficiency: X-linked recessive ichthyosis, birth complications and cryptorchidism
• Clinical symptomatology and diagnostic criteria in Rud's syndrome
• Coexistence of Sjogren-Larsson syndrome and Rud's syndrome in the same family
• Congenital ichthyosis with hypogonadism and growth retardation--a new syndrome with peculiar ultrastructural features
• Contiguous gene syndrome due to a maternally inherited 8.41 Mb distal deletion of chromosome band Xp22.3 in a boy with short stature, ichthyosis, epilepsy, mental retardation, cerebral cortical heterotopias and Dandy-Walker malformation
• Contiguous gene syndrome due to an interstitial deletion in Xp22.3 in a boy with ichthyosis, chondrodysplasia punctata, mental retardation and ADHD
• Contiguous gene syndrome due to deletion of the first three exons of the Kallmann gene and complete deletion of the steroid sulphatase gene
• Cryptorchidism and hypogenitalism in X-linked recessive ichthyosis vulgaris
• Deletions of the steroid sulphatase gene in "classical" X-linked ichthyosis and in X-linked ichthyosis associated with Kallmann syndrome
• Epidermolytic hyperkeratosis with a rare digital contracture
• Expanding the genetic spectrum of ANOS1 mutations in patients with congenital hypogonadotropic hypogonadism
• Familial ichthyosis, dwarfism, mental retardation, and renal disease
• Familial X;Y translocation with distinct phenotypic consequences: Characterization using FISH and array CGH
• Familial X/Y Translocation Encompassing ARSE in Two Moroccan Siblings with Sensorineural Deafness
• Genetic heterogeneity of the ichthyosis, hypogonadism, mental retardation, and epilepsy syndrome. Clinical and biochemical investigations on two patients with Rud syndrome and review of the literature
• Hypogandotropic hypogonadism with anosmia: the Kallmann syndrome
• Hypogonadotrophic hypogonadism with hyposmia, X-linked ichthyosis, and renal malformation syndrome
• Hypogonadotropic hypogonadism in patients with multiple congenital defects
• Hypogonadotropic hypogonadism; the genetic defect. A hypothesis based on human and animal prototypes
• Ichthyosis and hypogonadism in two brothers with deletion of the short arm of the X chromosome
• Ichthyosis vulgaris with hypogenitalism and hypogonadism: evidence for different genotypes by lipoprotein electrophoresis and steroid sulfatase testing
• Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization
• Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome
• Kallmann Syndrome and X-linked Ichthyosis Caused by Translocation Between Chromosomes X and Y: A Case Report
• Male fertility and skin diseases
• Male infant with ichthyosis, Kallmann syndrome, chondrodysplasia punctata, and an Xp chromosome deletion
• Molecular heterogeneity of steroid sulfatase deficiency: a multicenter study on 57 unrelated patients, at DNA and protein levels
• Neuroichthyosis with hypogonadism (Rud's syndrome)
• New clinico-genetic classification of trichothiodystrophy
• Non-bullous ichthyosiform erythroderma associated with retinitis pigmentosa
• Novel homozygous deletion of segmental KAL1 and entire STS cause Kallmann syndrome and X-linked ichthyosis in a Chinese family
• On the Rud syndrome
• Phenotype in novel Xp duplication
• Placental sulfatase deficiency in Japan
• Prenatal diagnosis and investigation of a fetus with chondrodysplasia punctata, ichthyosis, and Kallmann syndrome due to an Xp deletion
• Rud syndrome revisited: ichthyosis, mental retardation, epilepsy and hypogonadism
• Rud syndrome: congenital ichthyosis, hypogonadism, mental retardation, retinitis pigmentosa and hypertrophic polyneuropathy
• Rud's syndrome
• Rud's syndrome
• Rud's syndrome. Case report
• Secondary male hypogonadism and congenital ichthyosis: association of two rare genetic diseases
• Seizures-ichthyosis-mental retardation
• Sex-linked mental retardation, short stature, obesity and hypogonadism: report of a family
• Sjogren-Larsson syndrome. Oligophrenia--ichthyosis--di-tetraplegia
• Steroid sulphatase deficiency and hypogonadism
• Steroid sulphatase deficiency is present in patients with the syndrome 'ichthyosis and male hypogonadism' and with 'Rud syndrome'
• Subterminal deletion/duplication event in an affected male due to maternal X chromosome pericentric inversion
• The Kallmann's syndrome variant (KSV) model of the schizophrenias
• The Rud syndrome: ichthyosis, hypogonadism, mental retardation
• The Tay syndrome (congenital ichthyosis with trichothiodystrophy)
• Trichothiodystrophy
• Trichothiodystrophy associated with photosensitivity, gonadal failure, and striking osteosclerosis
• Two cases of steroid sulfatase deficiency with complex phenotype due to contiguous gene deletions
• Unilateral renal aplasia in X-linked Kallmann's syndrome
• Variable penetrance of hypogonadism in a sibship with Kallmann syndrome due to a deletion of the KAL gene
• X-linked ichthyosis with hypogonadism: not always Kallmann's syndrome
• X-linked ichthyosis, bilateral cryptorchidism, hypogenitalism and mental retardation in two siblings
• X-linked ichthyosis, due to steroid sulphatase deficiency, associated with Kallmann syndrome (hypogonadotropic hypogonadism and anosmia): linkage relationships with Xg and cloned DNA sequences from the distal short arm of the X chromosome
• X-linked syndrome of congenital ichthyosis, hypogonadism, mental retardation and anosmia
• XY translocation in a boy with ichthyosis, hypogonadism, short stature and mental retardation