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Results for
""Kallmann Syndrome""[mesh_terms]

13 Results

Searching titles within these results

Kallmann syndrome: Diagnostics and management.

Baiyu Qi, Jianping Wen, Xiaokun Gang, Santasree Banerjee, Rajiv Kumar Yadav

Clinica chimica acta; international journal of clinical chemistry 2024;565():119994

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Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

Rosita A Condorelli, Rossella Cannarella, Sandro La Vignera, Aldo E Calogero, Carmelo Gusmano, Andrea Bernini, Jurgen Kaftalli, Paolo Enrico Maltese, Stefano Paolacci, Astrit Dautaj, Giuseppe Marceddu, Matteo Bertelli

International journal of molecular sciences 2023;24(8):7428

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Case report: A case of Culler-Jones syndrome caused by a novel mutation of gene and literature review.

Yiwen Zhang, Bingzi Dong, Yu Xue, Yunyang Wang, Jing Yan, Lili Xu

Frontiers in endocrinology 2023;14():1133492

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Kallmann Syndrome Due to Heterozygous Mutation in Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Kan Chen, Haoyu Wang, Yaxin Lai

Frontiers in endocrinology 2021;11():592831

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Kallmann Syndrome: Functional Analysis of a Missense Variant Shows Aberrant RNA Splicing.

Josianne Nunes Carriço, Catarina Inês Gonçalves, José Maria Aragüés, Manuel Carlos Lemos

International journal of molecular sciences 2024;25(22):

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Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

Corin Badiu, Marco Bonomi, Ivan Borshchevsky, Martine Cools, Margarita Craen, Cristina Ghervan, Michael Hauschild, Eli Hershkovitz, Erik Hrabovszky, Anders Juul, Soo-Hyun Kim, Phillip Kumanov, Beatriz Lecumberri, Manuel C Lemos, Vassos Neocleous, Marek Niedziela, Sandra Pekic Djurdjevic, Luca Persani, Franziska Phan-Hug, Duarte Pignatelli, Nelly Pitteloud, Vera Popovic, Richard Quinton, Nicos Skordis, Neil Smith, Magdalena Avbelj Stefanija, Cheng Xu, Jacques Young, Andrew A Dwyer

Orphanet journal of rare diseases 2017;12(1):57

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Flavor perception test: evaluation in patients with Kallmann syndrome.

Luigi Maione, Elena Cantone, Immacolata Cristina Nettore, Gaetana Cerbone, Davide De Brasi, Nunzia Maione, Jacques Young, Carolina Di Somma, Antonio Agostino Sinisi, Maurizio Iengo, Paolo Emidio Macchia, Rosario Pivonello, Annamaria Colao

Endocrine 2017;52(2):236-43

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Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.

Rogerio Silicani Ribeiro, Teresa Cristina Vieira, Julio Abucham

European journal of endocrinology 2007;156(3):285-90

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Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Chiho Sugisawa, Matsuo Taniyama, Takeshi Sato, Yasuyoshi Takahashi, Tomonobu Hasegawa, Satoshi Narumi

Endocrine journal 2022;69(7):831-838

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Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.

Sabrina Bossio, Anna Perri, Gianmarco Gualtieri, Giuseppe Seminara, Rossella Cannarella, Paola Chiarello, Valentina Rocca, Rodolfo Iuliano, Sandro La Vignera, Aldo E Calogero, Stefano Alcaro, Emanuela A Greco, Antonio Aversa, Marianna Molinaro, Gemma Antonucci

International journal of molecular sciences 2025;26(11):

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Bone involvement in males with Kallmann disease.

Giovanni Iolascon, Laura Frizzi, Massimiliano Bianco, Francesca Gimigliano, Vincenzo Palumbo, Antonia Maria Sinisi, Antonio Agostino Sinisi

Aging clinical and experimental research 2016;27 Suppl 1():S31-6

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Genetics of hypogonadotropic hypogonadism.

S B Seminara, L M Oliveira, M Beranova, F J Hayes, W F Crowley

Journal of endocrinological investigation 2001;23(9):560-5

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Advances in the molecular genetics of hypogonadotropic hypogonadism.

J C Achermann, J L Jameson

Journal of pediatric endocrinology & metabolism : JPEM 2001;14(1):3-15

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Results: 1 – 13 / 13

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Results for ""Kallmann Syndrome""[mesh_terms]

Kallmann syndrome: Diagnostics and management.

Genetic Analysis of Patients with Congenital Hypogonadotropic Hypogonadism: A Case Series.

Case report: A case of Culler-Jones syndrome caused by a novel mutation of gene and literature review.

Kallmann Syndrome Due to Heterozygous Mutation in Coexisting With Waardenburg Syndrome Type II: Case Report and Review of Literature.

Kallmann Syndrome: Functional Analysis of a Missense Variant Shows Aberrant RNA Splicing.

Developing and evaluating rare disease educational materials co-created by expert clinicians and patients: the paradigm of congenital hypogonadotropic hypogonadism.

Flavor perception test: evaluation in patients with Kallmann syndrome.

Reversible Kallmann syndrome: report of the first case with a KAL1 mutation and literature review.

Biallelic PROKR2 variants and congenital hypogonadotropic hypogonadism: a case report and a literature review.

Identification of Novel Genetic Variants in a Cohort of Congenital Hypogonadotropic Hypogonadism: Computational Analysis of Pathogenicity Predictions.

Bone involvement in males with Kallmann disease.

Genetics of hypogonadotropic hypogonadism.

Advances in the molecular genetics of hypogonadotropic hypogonadism.

Results for
""Kallmann Syndrome""[mesh_terms]