Unilateral renal aplasia in X‐linked Kallmann's syndrome

No abstract is available for this paper.

• Publication year

  1994

• Venue

  Clinical Genetics

• Publication date

  1994-09-01

• Fields of study

  Medicine

• Identifiers
  DOI 10.1111/j.1399-0004.1994.tb04238.xPMID 7820942
• External record

  Open on Semantic Scholar

• Source metadata

  Semantic Scholar, PubMed

• No claims are published for this paper.

• No concepts are published for this paper.

• Heterogeneity in the mutations responsible for X chromosome-linked Kallmann syndrome.

  1993cited by this paper
• Deletion analysis maps ocular albinism proximal to the steroid sulphatase locus

  1993cited by this paper
• Expression pattern of the Kallmann syndrome gene in the olfactory system suggests a role in neuronal targeting

  1993cited by this paper
• X chromosome-linked Kallmann syndrome: stop mutations validate the candidate gene.

  1992cited by this paper
• Cortically evoked motor responses in patients with Xp22.3‐linked Kallmann's syndrome and in female gene carriers

  1992cited by this paper
• The candidate gene for the X-linked Kallmann syndrome encodes a protein related to adhesion molecules.

  1991cited by this paper
• A gene deleted in Kallmann's syndrome shares homology with neural cell adhesion and axonal path-finding molecules

  1991cited by this paper
• Neurologic findings in men with isolated hypogonadotropic hypogonadism

  1989cited by this paper
• Origin of luteinizing hormone-releasing hormone neurons

  1989cited by this paper
• A family with X-linked ichthyosis and hypogonadism

  1989cited by this paper
• Isolated gonadotropin deficiency in boys: clinical characteristics and growth.

  1987cited by this paper
• Estimating frequency of Kallmann syndrome among hypogonadic and among anosmic patients.

  1987cited by this paper
• A new syndrome of anosmia, ichthyosis, hypogonadism, and various neurological manifestations with deficiency of steroid sulfatase and arylsulfatase C

  1986cited by this paper
• Heterogeneity of Kallmann's syndrome

  1985cited by this paper
• Müllerian anomalies and renal agenesis: autosomal dominant urogenital adysplasia.

  1984cited by this paper
• Syndrome of anosmia with hypogonadotropic hypogonadism (Kallmann syndrome): clinical and laboratory studies in 23 cases.

  1982cited by this paper
• Congenital Anosmia: Detection Thresholds for Seven Odorant Classes in Hypogonadal and Eugonadal Patients

  1979cited by this paper
• AN AUTOPSY CASE OF KALLMANN'S SYNDROME

  1979cited by this paper
• Bilateral absence of the kidneys and ureters. Three cases reported in one family.

  1977cited by this paper
• Olfacto-genital dysplasia in the female.

  1976cited by this paper
• Familial Kallmann syndrome with unilateral renal aplasia

  1975cited by this paper
• Multiple lentigines syndrome: new findings of hypogonadotrophism, hyposmia, and unilateral renal agenesis.

  1971cited by this paper
• Genetic aspects in male hypogonadism.

  1961cited by this paper
• The genetic aspects of primary eunuchoidism

  1944cited by this paper

• Hypogonadotropic hypogonadism with Zinner syndrome: a coincidence or a consequence?

  2024cites this paper
• Shared features in ear and kidney development – implications for oto-renal syndromes

  2024cites this paper
• The genetic etiologies of bilateral renal agenesis

  2024cites this paper
• Kallmann Syndrome with Brain Changes and Unilateral Renal Agenesis: A Rare Case Report

  2021cites this paper
• Novel Microdeletion in the X Chromosome Leads to Kallmann Syndrome, Ichthyosis, Obesity, and Strabismus

  2020cites this paper
• Male hypogonadotropic hypogonadism in various genetic disorders

  2020cites this paper
• The novel function of miR‐3195 for mutant PROK2 (c.223‐4C>A) degradation

  2020cites this paper
• Nonneoplastic Diseases of the Testis

  2020cites this paper
• Congenital Hypogonadotropic Hypogonadism in Males: Clinical Features and Pathophysiology

  2017cites this paper
• Kidney Development and Disease

  2017cites this paper
• Kallmann syndrome: phenotype and genotype of hypogonadotropic hypogonadism.

  2017cites this paper
• Perspectives in Pediatric Pathology, Chapter 18. Hypogonadotropic Hypogonadisms. Pediatric and Pubertal Presentations

  2016cites this paper
• Disorders of Puberty

  2016cites this paper
• CHARGE syndrome: candidate genes and pathogenesis

  2015cites this paper
• Genetic, environmental, and epigenetic factors involved in CAKUT

  2015cites this paper
• Kallmann syndrome with FGFR1 and KAL1 mutations detected during fetal life

  2015cites this paper
• Expert consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism—pathogenesis, diagnosis and treatment

  2015cites this paper
• Kallmann’s Syndrome: A Rare Cause of Primary Amenorrhoea

  2014cites this paper
• Renal Agenesis in Kallmann Syndrome: A Network Approach

  2014cites this paper
• Prioritizing genetic testing in patients with Kallmann syndrome using clinical phenotypes.

  2013cites this paper
• Prevalence of Olfactory and Other Developmental Anomalies in Patients with Central Hypogonadotropic Hypogonadism

  2013cites this paper
• Anatomic Olfactory Structural Abnormalities in Congenital Smell Loss: Magnetic Resonance Imaging Evaluation of Olfactory Bulb, Groove, Sulcal, and Hippocampal Morphology

  2013cites this paper
• The eye as a window to rare endocrine disorders

  2012cites this paper
• Renal Anomalies Associated with Ectopic Neurohypophysis

  2011cites this paper
• Clinical genetics of Kallmann syndrome.

  2010cites this paper
• Genes, urinary tract development and human disease.

  2010cites this paper
• The Complex Genetics of Kallmann Syndrome : KAL 1 , FGFR 1 , FGF 8 , PROKR 2 , PROK

  2008influential citation
• The Complex Genetics of Kallmann Syndrome: KAL1, FGFR1, FGF8, PROKR2, PROK2, et al.

  2008influential citation
• Genetic syndromes and prenatally detected renal anomalies.

  2008cites this paper
• Basic infertility including polycystic ovary syndrome.

  2008cites this paper
• Nephrotic syndrome with X-linked ichthyosis, Kallmann Syndrome and unilateral renal agenesis.

  2007cites this paper
• Renal dysgenesis and KAL1 gene defects in patients with sporadic Kallmann syndrome.

  2007cites this paper
• Kallmann syndrome

  2007cites this paper
• A Case of Kallmann's Syndrome with Unilateral Renal Aplasia and Diabetes Mellitus

  2005cites this paper
• Motor cortex-muscle oscillatory communication in health and disease

  2005cites this paper
• Molecular analysis of KAL-1, GnRH-R, NELF and EBF2 genes in a series of Kallmann syndrome and normosmic hypogonadotropic hypogonadism patients.

  2005cites this paper
• Reversible kallmann syndrome, delayed puberty, and isolated anosmia occurring in a single family with a mutation in the fibroblast growth factor receptor 1 gene.

  2005cites this paper
• Evolving concepts in human renal dysplasia.

  2004cites this paper
• Clinical assessment and mutation analysis of Kallmann syndrome 1 (KAL1) and fibroblast growth factor receptor 1 (FGFR1, or KAL2) in five families and 18 sporadic patients.

  2004influential citation
• Congenital Hypogonadotropic Hypogonadism

  2004cites this paper
• Kallmann syndrome: fibroblast growth factor signaling insufficiency?

  2004cites this paper
• Ontogeny of GnRH and olfactory neuronal systems in man: novel insights from the investigation of inherited forms of Kallmann's syndrome.

  2004cites this paper
• Maldevelopment of the Human Kidney and Lower Urinary Tract: An Overview

  2003cites this paper
• X chromosome-linked Kallmann syndrome: clinical heterogeneity in three siblings carrying an intragenic deletion of the KAL-1 gene.

  2003cites this paper
• Das Kallmann-Syndrom

  2003cites this paper
• Genetic disorders of human congenital anomalies of the kidney and urinary tract (CAKUT)

  2003cites this paper
• Genetics and hypogonadotrophic hypogonadism

  2002cites this paper
• The role of prior pubertal development, biochemical markers of testicular maturation, and genetics in elucidating the phenotypic heterogeneity of idiopathic hypogonadotropic hypogonadism.

  2002cites this paper
• PERSPECTIVES IN PEDIATRIC PATHOLOGY Molecular Mechanisms of Human Embryogenesis: Developmental Pathogenesis of Renal Tract Malformations

  2002cites this paper
• Functional MRI of Congenital Hyposmia: Brain Activation to Odors and Imagination of Odors and Tastes

  2002cites this paper
• Recent advances in the pathogenesis of Kallmann's syndrome.

  2002cites this paper
• I. Normal Development of Human Kidney and Lower Urinary Tract II. Varied Phenotypes of Human Kidney and Lower Urinary Tract Maldevelopment III. Causes of Maldevelopment of Human Kidney and Lower Urinary Tract References

  2002cites this paper
• Cytogenetic analysis and detection of KAL-1 gene deletion with fluorescence in situ hybridization (FISH) in patients with Kallmann syndrome

  2001cites this paper
• Normal and abnormal development of the urogenital tract

  2001cites this paper
• Multicystic dysplastic kidney and Kallmann's syndrome: a new association?

  2001cites this paper
• The Urinary System

  2001cites this paper
• Molecular modelling and experimental studies of mutation and cell-adhesion sites in the fibronectin type III and whey acidic protein domains of human anosmin-1.

  2001cites this paper
• The diagnosis and treatment of male infertility in the new millennium.

  2001cites this paper
• Kallmann syndrome: towards molecular pathogenesis.

  2001cites this paper
• Idiopathic gonadotrophin deficiency: genetic questions addressed through phenotypic characterization*

  2001cites this paper
• Klinische Krankheitsbilder mit urologischen und genitalen Fehbildungen: Felddefekte — Sequenzen — Syndrome — Symptomenkomplexe — Assoziationen

  2000cites this paper
• A molecular and genetic view of human renal and urinary tract malformations.

  2000cites this paper
• A novel nonsense mutation of the KAL gene in two brothers with Kallmann syndrome.

  2000cites this paper
• A Novel Nonsense Mutation of the KAL Gene in Two Brothers withKallmann Syndrome

  2000cites this paper
• Structural and functional studies of anosmin-1, the protein disrupted in X-linked Kallmann's syndrome.

  2000cites this paper
• Kallmann’s syndrome

  1999cites this paper
• X-linked Kallmann syndrome and renal agenesis occurring together and independently in a large Australian family.

  1999cites this paper
• Renal abnormalities in patients with Kallmann syndrome

  1999cites this paper
• Cell adhesion molecules and extracellular-matrix constituents in kidney development and disease.

  1999cites this paper
• Neurophysiologic follow-up of long-term dietary treatment in adult-onset adrenoleukodystrophy

  1999cites this paper
• Investigation of a unique male and female sibship with Kallmann's syndrome and 46,XX gonadal dysgenesis with short stature.

  1999cites this paper
• Anosmin‐1 is a regionally restricted component of basement membranes and interstitial matrices during organogenesis: Implications for the developmental anomalies of X chromosome‐linked Kallmann syndrome

  1999cites this paper
• COMMENTARY Cell adhesion molecules and extracellular-matrix constituents in kidney development and disease

  1999cites this paper
• Clinical Evaluation in Isolated Hypogonadotrophic Hypogonadism (Kallmann Syndrome)

  1998cites this paper
• Advances in the cell biology and genetics of human kidney malformations.

  1998cites this paper
• Gonadotropin-releasing hormone deficiency in the human (idiopathic hypogonadotropic hypogonadism and Kallmann's syndrome): pathophysiological and genetic considerations.

  1998cites this paper
• Genetic abnormalities and male infertility. A comprehensive review.

  1998cites this paper
• Proteinuria, hypertension and chronic renal failure in X-linked Kallmann's syndrome, a defined genetic cause of solitary functioning kidney.

  1998cites this paper
• X‐linked ichthyosis with hypogonadism: not always Kallmann's syndrome

  1997cites this paper
• Mirror movements in X-linked Kallmann's syndrome. I. A neurophysiological study.

  1997cites this paper
• The neuroradiology of Kallmann's syndrome: a genotypic and phenotypic analysis.

  1996cites this paper
• Molecular Genetics and Neurobiology of Kallmann’s Syndrome

  1996cites this paper
• X-linked Kallmann's syndrome : a molecular genetic and developmental analysis.

  1996cites this paper
• The genetic and clinical heterogeneity of gonadotropin-releasing hormone deficiency in the human.

  1996cites this paper
• A molecular approach to the pathophysiology of the X chromosome-linked Kallmann's syndrome.

  1995cites this paper
• KAL, a gene mutated in Kallmann's syndrome, is expressed in the first trimester of human development.

  1995cites this paper
• Hypogonadotrophic hypogonadism with hyposmia, X‐linked ichthyosis, and renal malformation syndrome

  1995cites this paper
• consensus document: European Consensus Statement on congenital hypogonadotropic hypogonadism-pathogenesis, diagnosis and treatment. Nature Reviews Endocrinology 2015, 11(9), 547-564.

  year unknowncites this paper