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Isis Marchand

Explore the profile of Isis Marchand including associated specialties, affiliations and a list of published articles. Areas
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Articles 5
Citations 33
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Recent Articles
1.
Stoupa A, Franca M, Abdulhadi-Atwan M, Fujisawa H, Korwutthikulrangsri M, Marchand I, et al.
Genet Med . 2024 Sep; 26(12):101280. PMID: 39315526
Purpose: Defects in the gene encoding selenocysteine insertion sequence binding protein 2, SECISBP2, result in global impaired selenoprotein synthesis manifesting a complex syndrome with characteristic serum thyroid function tests due...
2.
Missontsa M, Bernaudin F, Fortin A, Dhedin N, Pondarre C, Yakouben K, et al.
J Assist Reprod Genet . 2024 Feb; 41(4):1027-1034. PMID: 38358434
Purpose: To describe the experience of performing ovarian tissue cryopreservation (OTC) before hematopoietic stem cell transplantation (HSCT), among girls/women with severe sickle cell disease (SCD)(SS or S/β-thalassemia) who are, besides...
3.
Levaillant L, Bouhours-Nouet N, Illouz F, Amsellem Jager J, Bachelot A, Barat P, et al.
J Clin Endocrinol Metab . 2023 Mar; 108(9):e779-e788. PMID: 36884306
Introduction: Congenital hypothyroidism with gland-in-situ (CH-GIS) is usually attributed to mutations in the genes involved in thyroid hormone production. The diagnostic yield of targeted next-generation sequencing (NGS) varied widely between...
4.
Marchand I, Barkaoui M, Garel C, Polak M, Donadieu J
J Clin Endocrinol Metab . 2011 Jul; 96(9):E1352-60. PMID: 21752883
Context: Isolated central diabetes insipidus (CDI) can be the first manifestation of Langerhans cell histiocytosis (LCH), creating diagnostic dilemmas such as dysgerminoma and other inflammatory lesions. Method: In 2010, the...
5.
Rothenbuhler A, Marchand I, Bougneres P, Linglart A
J Clin Endocrinol Metab . 2010 May; 95(8):3768-70. PMID: 20501688
Background: Hypocalcemia carries a risk of cardiac conduction incidents and death. Hypocalcemia is a frequent adverse effect of pamidronate. Objective: The objective of this study was to investigate whether pamidronate...