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About 770 results

ALLMedicine™ Kallmann Syndrome Center

Research & Reviews  385 results

A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.
https://doi.org/10.1515/jpem-2020-0029
Journal of Pediatric Endocrinology & Metabolism : JPEM; Erbaş İM, Paketçi A et. al.

Aug 27th, 2020 - Background Variants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary horm...

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals networ...
https://doi.org/10.1093/hmg/ddaa120
Human Molecular Genetics; Davis EE, Balasubramanian R et. al.

Jul 5th, 2020 - Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular components of this sys...

Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
https://doi.org/10.1210/clinem/dgaa404
The Journal of Clinical Endocrinology and Metabolism; Coelingh Bennink HJT, Egberts JFM et. al.

Jun 30th, 2020 - We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal function in the following 8 populations: 1) females with the Turner syndrome (45, XO); 2) females and males wi...

CHD7 missense variants and clinical characteristics of Chinese males with infertility.
https://doi.org/10.1002/mgg3.1372
Molecular Genetics & Genomic Medicine REFERENCES; Li L, Wang R et. al.

Jun 23rd, 2020 - Isolated hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare genetic diseases that cause male infertility. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is commonly associated with KS and IHH. We speculated that C...

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotro...
https://doi.org/10.1055/a-1151-4800
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association; Choi JH, Oh A et. al.

Jun 2nd, 2020 - Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) has a wide phenotypic spectrum including Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). FGFR1 mutations have been identified in 3-10% of patient...

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Clinicaltrials.gov  385 results

A nonsense variant in FGFR1: a rare cause of combined pituitary hormone deficiency.
https://doi.org/10.1515/jpem-2020-0029
Journal of Pediatric Endocrinology & Metabolism : JPEM; Erbaş İM, Paketçi A et. al.

Aug 27th, 2020 - Background Variants in fibroblast growth factor receptor-1 (FGFR1) may either cause isolated hypogonadotropic hypogonadism (IHH) or Kallmann syndrome (KS). Although the relationship of genes classically involved in IHH with combined pituitary horm...

TCF12 haploinsufficiency causes autosomal dominant Kallmann syndrome and reveals networ...
https://doi.org/10.1093/hmg/ddaa120
Human Molecular Genetics; Davis EE, Balasubramanian R et. al.

Jul 5th, 2020 - Dysfunction of the gonadotropin-releasing hormone (GnRH) axis causes a range of reproductive phenotypes resulting from defects in the specification, migration and/or function of GnRH neurons. To identify additional molecular components of this sys...

Breast Cancer and Major Deviations of Genetic and Gender-related Structures and Function.
https://doi.org/10.1210/clinem/dgaa404
The Journal of Clinical Endocrinology and Metabolism; Coelingh Bennink HJT, Egberts JFM et. al.

Jun 30th, 2020 - We have searched the literature for information on the risk of breast cancer (BC) in relation to gender, breast development, and gonadal function in the following 8 populations: 1) females with the Turner syndrome (45, XO); 2) females and males wi...

CHD7 missense variants and clinical characteristics of Chinese males with infertility.
https://doi.org/10.1002/mgg3.1372
Molecular Genetics & Genomic Medicine REFERENCES; Li L, Wang R et. al.

Jun 23rd, 2020 - Isolated hypogonadotropic hypogonadism (IHH) and Kallmann syndrome (KS) are rare genetic diseases that cause male infertility. The chromodomain helicase DNA-binding protein 7 (CHD7) gene is commonly associated with KS and IHH. We speculated that C...

Functional Characteristics of Novel FGFR1 Mutations in Patients with Isolated Gonadotro...
https://doi.org/10.1055/a-1151-4800
Experimental and Clinical Endocrinology & Diabetes : Official Journal, German Society of Endocrinology [and] German Diabetes Association; Choi JH, Oh A et. al.

Jun 2nd, 2020 - Isolated gonadotropin-releasing hormone (GnRH) deficiency (IGD) has a wide phenotypic spectrum including Kallmann syndrome (KS) and normosmic idiopathic hypogonadotropic hypogonadism (nIHH). FGFR1 mutations have been identified in 3-10% of patient...

see more →