Results 11 to 20 of about 2,707 (125)

Deletion in RMST lncRNA impairs hypothalamic neuronal development in a human stem cell-based model of Kallmann Syndrome [PDF]

Cell Death Discovery
Rhabdomyosarcoma 2-associated transcript (RMST) long non-coding RNA has previously been shown to cause Kallmann syndrome (KS), a rare genetic disorder characterized by congenital hypogonadotropic hypogonadism (CHH) and olfactory dysfunction.
Gowher Ali, Kyung Chul Shin, Nisar Ahmed, Wesal Habbab, Ghaneya Alkhadairi, Aleem Razzaq, Yosra Bejaoui, Nady El Hajj, Borbala Mifsud, Yongsoo Park, Lawrence W. Stanton   +10 more
doaj   +2 more sources

Clinico-hormonal Parameters as a Primary Step to Differentiate Normosmic Idiopathic Hypogonadotropic Hypogonadism and Kallmann Syndrome in a Tertiary Care Hospital in Eastern India [PDF]

Journal of Clinical and Diagnostic Research, 2021
Introduction: Idiopathic hypogonadotropic hypogonadism is a rare gonadal dysgenesis in which puberty does not take place naturally. It occurs due to insufficient pulsatile secretion of Gonadotrophin-Releasing Hormone (GnRH) and the resulting Follicle-
Ram Chandra Bhadra, Dona Saha, Arjun Baidya   +2 more
doaj   +1 more source

A Novel Hemizygous <i>ANOS1</i> Variant in a Patient With Kallmann Syndrome and Type 2 Diabetes Mellitus: A Case Report. [PDF]

Case Rep Endocrinol
Introduction Kallmann syndrome (KS), a rare genetic disorder, is characterized by congenital hypogonadotropic hypogonadism (CHH) and anosmia or hyposmia. Case Report We report a case of KS with type 2 diabetes mellitus (T2DM) associated with a novel hemizygous missense variant in ANOS1 (NM_000216.4; exon 4; c.505G >C;p.(Gly169Arg)).
Qin S, Zhang Y, Chen Y, Chen W, Ni Y, Zhong J.   +5 more
europepmc   +2 more sources

Identification and Functional Characterization of a Novel SEMA3A Exon Deletion Variant in Kallmann Syndrome. [PDF]

Mol Genet Genomic Med
The study identified a novel SEMA3A exons 6–9 deletion variant in Kallmann syndrome that impairs GnRH neuronal migration and alters cell migration, gonad development, and synaptic pathways. The study expands mutation spectrum and offers mechanistic insights for clinical diagnosis of Kallmann syndrome.
Zang S, Zhou S, Liu Q, Yin X, Li P.
europepmc   +2 more sources

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, Akihito Takei, Nobukazu Okada, Miki Shinohara, Manabu Takahashi, Shuichi Nagashima, Kenta Okada, Ken Ebihara, Shun Ishibashi   +8 more
doaj   +1 more source

A rare case of Kallmann syndrome with bimanual synkinesis

Sri Lanka Journal of Medicine, 2021
Kallmann syndrome is a rare inherited disorder characterized by hypogonadotropic hypogonadism and anosmia or hyposmia. Such cases are mostly diagnosed in adolescent period with complaints of failure to achieve puberty.
A. Deshmukh, R. Joshi
doaj   +1 more source

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, Rajani Gorantla, D. Ankamma Rao   +2 more
doaj   +1 more source

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
doaj   +1 more source

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, Luis Teixeira, Jacqueline Levilliers, Corinne Fouveaut, Philippe Bouchard, Marie-Laure Kottler, James Lespinasse, Anne Lienhardt-Roussie, Michèle Mathieu, Alexandre Moerman, Graeme Morgan, Arnaud Murat, Jean-Edmont Toublanc, Slawomir Wolczynski, Marc Delpech, Christine Petit, Jacques Young, Jean-Pierre Hardelin   +17 more
doaj   +1 more source

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, Jun Zeng, Hongxi Tan, Xiangsheng Cai, Benqing Wu   +4 more
doaj   +1 more source