Results 81 to 90 of about 1,444,136 (141)

Requirement of FAT and DCHS protocadherins during hypothalamic-pituitary development

, 2020
International audiencePituitary developmental defects lead to partial or complete hormone deficiency and significant health problems. The majority of cases are sporadic and of unknown cause.
Fabio R. Faucz, Silva, Tatiane, Patist, Amanda, Tina Hodgson, Dominika Sosnowska, Xekouki, Paraskevi, Alice Santambrogio, Faucz, Fabio, Tatiane S. Silva, Emily J. Lodge, Helmbacher, Françoise, James L. Mills, Cristiane Kochi, Constantine A. Stratakis, Amanda L. Patist, Françoise Helmbacher, Stratakis, Constantine, Lane, John, Francis-West, Philippa, Andoniadou, Cynthia, Cynthia L. Andoniadou, John Lane, Kochi, Cristiane, Santambrogio, Alice, Sosnowska, Dominika, Mills, James, Hodgson, Tina, Paraskevi Xekouki, Nathan Pankratz, Carlos A. Longui, Lodge, Emily, Pankratz, Nathan, Philippa Francis-West, Longui, Carlos   +33 more
core   +1 more source

Oral Presentation

European Journal of Neurology, Volume 32, Issue S1, June 2025.
wiley   +1 more source

Pituitary Stalk Interruption Syndrome with Excessive Height Growth Combined with Congenital Absence of the Uterus and Ovaries: A Rare Case Report and Review of the Literature [PDF]

Rongqian Wu,1– 3 Jixiong Xu1– 3 1Department of Endocrinology and Metabolism, The 1st Affiliated Hospital, Jiangxi Medical College, Nanchang University, Nanchang, People’s Republic of China; 2Jiangxi Clinical Research Center for Endocrine and Metabolic ...
Wu R, Xu J
core  

Familial ROBO1 deletion associated with ectopic posterior pituitary, duplication of the pituitary stalk and anterior pituitary hypoplasia

, 2019
The genetic causes of abnormal pituitary development have been extensively studied in the last few years. ROBO1 is involved in neurogenesis and axon guidance.
Scala M., Tassano E., Allegri A. M. E., Capra V., Morana G., Severino M., Maghnie M., Accogli A., Morana, G   +8 more
core   +1 more source

EHA2024 Hybrid Congress

HemaSphere, Volume 8, Issue S1, June 2024.
wiley   +1 more source

ePosters

European Journal of Neurology, Volume 31, Issue S1, June 2024.
wiley   +1 more source

Severe Hypoglycemia and Pituitary Stalk Interruption Syndrome in a 5-Year-Old Boy with Coexistent Hyperprolinaemia: A Case Report and Literature Review

Endocrines
Background/Objectives: Hyperprolinemia is a rare autosomal recessive disorder with two distinct types: I (HPI) and II (HPII). The clinical presentation varies widely, with some individuals remaining asymptomatic and others exhibiting neurological, renal,
Aikaterini Theodosiadi, Ilektra Toulia, Maria G. Grammatikopoulou, Fotini Adamidou, Danai Chourmouzi, Charalampos Antachopoulos, Athanasios E. Evangeliou, Dimitrios G. Goulis, Kyriaki Tsiroukidou   +8 more
doaj   +1 more source

PROKR2 Variants in Multiple Hypopituitarism with Pituitary Stalk Interruption.

, 2012
International audienceContext:Pituitary stalk interruption represents a frequent feature of congenital hypopituitarism, but only rare cases have been assigned to a known genetic cause.Objective:Using a candidate gene approach, we tested several genes as ...
Saveanu, Alexandru, Rondard, Philippe, Simonin, Gilbert, Martinez-Barbera, Juan Pedro, Guiochon-Mantel, Anne, Bouligand, Jérome, Guedj, Anne-Marie, Monnier, Carine, Brue, Thierry, Barlier, Anne,, Barlier, Anne, A., Lecomte, Pierre, Jayakody, Sujatha A, Reynaud, Rachel   +13 more
core   +1 more source

Gonadotropic status in adult women with pituitary stalk interruption syndrome: Gonadotropic function in adult women with PSIS

International audienceObjective Pituitary stalk interruption syndrome (PSIS) is a rare cause of congenital hypopituitarism. Limited data exist on the gonadotropic status and fertility of adult women with PSIS.
Brue, T, Zins, M, Barraud, Sarah, Baussart, B, Terray, A, Kab, S, Goldberg, M, Cazabat, L, Illouz, F, Reznik, Y, Raverot, G, Hage, Mirella, Raffin-Sanson, M, L, Briere, M, Young, J, Christin Maitre, S   +15 more
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Table_2_Re-analysis of gene mutations found in pituitary stalk interruption syndrome and a new hypothesis on the etiology.xlsx

BackgroundPituitary stalk interruption syndrome (PSIS) is a complex clinical syndrome characterized by varied pituitary hormone deficiencies, leading to severe manifestations across multiple systems.
Qinghua Guo (288852), Shengjie Wang (1533823), Yan Xiao (91196), Deyue Jiang (18013537), Xiaoxia Jiang (121573), Qiaozhen Qin (13159201), Lingtong Ye (10502561)   +6 more
core   +1 more source