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research Two New Unrelated Cases of Hereditary 1,25-Dihydroxyvitamin D-resistant Rickets with Alopecia resulting from the same Novel Nonsense Mutation in the Vitamin D Receptor Gene

36 citations , January 2010 in “Journal of Pediatric Endocrinology and Metabolism”

A new gene mutation causes vitamin D resistance and hair loss in two unrelated girls.

Adrenal 21-Hydroxylase Gene Mutations in Slovenian Hyperandrogenic Women: Evaluation of Corticotrophin Stimulation and HLA Polymorphisms in Screening for Carrier Status

research Adrenal 21-hydroxylase gene mutations in Slovenian hyperandrogenic women: evaluation of corticotrophin stimulation and HLA polymorphisms in screening for carrier status

19 citations , August 1999 in “European journal of endocrinology”

The study concluded that testing hormone levels after stimulation is not reliable for identifying carriers of 21-hydroxylase deficiency; genetic testing is necessary.

research Studying the genetic predisposing factors in the pathogenesis of acne vulgaris

39 citations , May 2011 in “Human Immunology”

Genetics play a role in acne, but how exactly they contribute is not fully understood.

Clinical-Exome Sequencing Unveils the Genetic Landscape of Polycystic Ovarian Syndrome Focusing on Lean and Obese Phenotypes: Implications for Cost-Effective Diagnosis and Personalized Treatment

research Clinical-exome sequencing unveils the genetic landscape of polycystic ovarian syndrome (PCOS) focusing on lean and obese phenotypes: implications for cost-effective diagnosis and personalized treatment

13 citations , October 2024 in “Scientific Reports”

Early diagnosis and personalized treatment for PCOS are crucial, especially for young women in West Bengal, India.

research Clinical and Genetic Characterization of Tunisian Children with Hereditary 1,25-Dihydroxyvitamin D-Resistant Rickets

8 citations , December 2016 in “Hormone Research in Paediatrics”

Tunisian children with hereditary vitamin D-resistant rickets showed improvement with calcium treatment, and new genetic mutations were identified.

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Hair System Specialist
Jane Genesi
Marlton, PA, United States

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Jane Genesi