List of works - Leman Damla Kotan

A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency

scientific article published on 27 August 2020

A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation

scientific article published on 06 April 2014

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

scientific article published on 25 March 2016

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

scientific article published on 23 January 2017

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.

scientific article

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

scientific article

Genetics of Hypogonadotropic Hypogonadism

scientific article published on 17 December 2015

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

scientific article

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

scientific article

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ⬇️

scientific article published on 18 April 2016

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

article

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

scientific article

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability

scientific article

Molecular causes of hypogonadotropic hypogonadism.

scientific article published on August 2010

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance

scientific article published on 27 March 2018

Mutations in FEZF1 cause Kallmann syndrome

scientific article

Neurokinin B signalling in human puberty.

scientific article published on 29 April 2010

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.

scientific article published on 7 November 2014

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

scientific article

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism

scientific article published on 26 December 2018

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.

scientific article published on 25 February 2010

List of works by Leman Damla Kotan

A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency

A rare variant in human fibroblast activation protein associated with ER stress, loss of enzymatic function and loss of cell surface localisation

CCDC141 Mutation Identified in Anosmic Hypogonadotropic Hypogonadism (Kallmann Syndrome) Alters GnRH Neuronal Migration

CCDC141 Mutations in Idiopathic Hypogonadotropic Hypogonadism

Complete Idiopathic Hypogonadotropic Hypogonadism due to Homozygous GNRH1 Mutations in the Mutational Hot Spots in the Region Encoding the Decapeptide.

Distribution of gene mutations associated with familial normosmic idiopathic hypogonadotropic hypogonadism

Genetics of Hypogonadotropic Hypogonadism

Hypogonadotropic Hypogonadism due to Novel FGFR1 Mutations

Hypogonadotropic hypogonadism due to a novel missense mutation in the first extracellular loop of the neurokinin B receptor.

Idiopathic Hypogonadotropic Hypogonadism Caused by Inactivating Mutations in SRA1. ⬇️

Inactivating KISS1 mutation and hypogonadotropic hypogonadism

Loss-of-function mutations in PNPLA6 encoding neuropathy target esterase underlie pubertal failure and neurological deficits in Gordon Holmes syndrome

MCM9 mutations are associated with ovarian failure, short stature, and chromosomal instability

Molecular causes of hypogonadotropic hypogonadism.

Molecular genetic studies in a case series of isolated hypoaldosteronism due to biosynthesis defects or aldosterone resistance

Mutations in FEZF1 cause Kallmann syndrome

Neurokinin B signalling in human puberty.

Normosmic idiopathic hypogonadotropic hypogonadism due to a novel homozygous nonsense c.C969A (p.Y323X) mutation in the KISS1R gene in three unrelated families.

Novel inactivating mutations of the DCAF17 gene in American and Turkish families cause male infertility and female subfertility in the mouse model.

Prevalence and associated phenotypes of PLXNA1 variants in normosmic and anosmic idiopathic hypogonadotropic hypogonadism

Wolcott-Rallison syndrome due to the same mutation (W522X) in EIF2AK3 in two unrelated families and review of the literature.