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Pediatric Neurology Briefs, 1993 The clinical, biological, and molecular genetic aspects of Kallmann syndrome are reported from the Institute of Molecular Genetics, Baylor College of Medicine, Houston, TX.
J Gordon Millichap
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A novel SOX10 nonsense mutation in a patient with Kallmann syndrome and Waardenburg syndrome
Endocrinology, Diabetes & Metabolism Case Reports, 2021 The underlying genetic drivers of Kallmann syndrome, a rare genetic disorder characterized by anosmia and hypogonadotropic hypogonadism due to impairment in the development of olfactory axons and in the migration of gonadotropin-releasing hormone (GNRH ...
Tetsuji Wakabayashi +8 more
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Recent advances in understanding and managing Kallmann syndrome. [PDF]
Fac Rev, 2021 Swee DS, Quinton R, Maggi R.
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MR imaging in Kallmann syndrome: a case report
The Egyptian Journal of Radiology and Nuclear Medicine, 2020 Background A rare genetic disorder called Kallmann syndrome results from a defect in the neuronal migration of olfactory axons and gonadotropin-releasing hormone neurons.
Sameera Allu +2 more
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Kallmann syndrome: mutations in the genes encoding prokineticin-2 and prokineticin receptor-2. [PDF]
PLoS Genetics, 2006 Kallmann syndrome combines anosmia, related to defective olfactory bulb morphogenesis, and hypogonadism due to gonadotropin-releasing hormone deficiency.
Catherine Dodé +17 more
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Kallmann Syndrome: Eugenics and the Man behind the Eponym
Rambam Maimonides Medical Journal, 2016 Kallmann syndrome is named after Franz Joseph Kallmann, a German-born psychiatrist who described in 1944 twelve subjects from three families who presented with a syndrome of missed puberty, anosmia, and color blindness. Yet, several other eponyms for the
Carlos A. Benbassat
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Novel 12 Mb interstitial deletion of chromosome 8p11.22-p21.2: a case report
BMC Medical Genomics, 2022 Background The deletion of a short arm fragment on chromosome 8 is a rare cause of Kallmann syndrome and spherocytosis due to deletion of the FGFR1 and ANK1 genes.
Jincheng Dai +4 more
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Kallmann syndrome and ichthyosis: a case of contiguous gene deletion syndrome
Endocrinology, Diabetes & Metabolism Case Reports, 2017 Kallmann syndrome is a genetically heterogeneous form of hypogonadotropic hypogonadism caused by gonadotropin-releasing hormone deficiency and characterized by anosmia or hyposmia due to hypoplasia of the olfactory bulbs; osteoporosis and metabolic ...
Irene Berges-Raso +5 more
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Journal of Cleft Lip Palate and Craniofacial Anomalies, 2022 Isolated deficiency of gonadotropin-releasing hormone is a heterogeneous disorder with wide genetic and clinical overlap. It mainly presents as hypogonadotropic hypogonadism (HH).
Adity Bansal +4 more
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Kallmann syndrome in a 17-year-old boy
Кубанский научный медицинский вестник, 2020 Aim. To describe a rare hereditary disease — Kallmann syndrome — in a 17-year-old boy.Materials and methods. A retrospective analysis of anamnestic information, the course of the disease, laboratory and instrumental data and treatment of a 17-year-old ...
Alla V. Burlutskaya +2 more
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