Results 151 to 160 of about 584,122 (264)

Clinical and immunological features of a patient exhibiting delayed puberty, microcephaly, scoliosis and epilepsy caused by a novel mutation in <i>IGSF10</i>. [PDF]

Front Cell Dev Biol
Cao GH, Liu L, Liu Z, Zhu L, Ta N, Liu YH, Zhang AQ, Fan LL.   +7 more
europepmc   +1 more source

Delayed puberty, gonadotropin abnormalities and subfertility in male Padi2/Padi4 double knockout mice. [PDF]

Reprod Biol Endocrinol, 2022
Sams KL, Mukai C, Marks BA, Mittal C, Demeter EA, Nelissen S, Grenier JK, Tate AE, Ahmed F, Coonrod SA.   +9 more
europepmc   +1 more source

A 1% glycopyrronium bromide cream for topical treatment of severe primary axillary hyperhidrosis in adolescents: safety, local tolerability, systemic exposure and efficacy from an open‐label phase II study

JDDG: Journal der Deutschen Dermatologischen Gesellschaft, EarlyView.
Summary Background and objectives Primary axillary hyperhidrosis (PAHH) results from dysregulation of the autonomic nervous system and typically begins during puberty. Treatment options for adolescents remain limited. This open‐label phase II study evaluated the safety, local tolerability, systemic exposure, and efficacy of 1% GPB cream over 8 weeks in
Rolf‐Markus Szeimies, Ana Kilic, Hubert Reich, Birgit Berger, Erik Schulze zur Wiesche, Leonie Litzka, Katharina Schramm, Susanne Heimstaedt‐Muskett, Clarissa Masur   +8 more
wiley   +1 more source

Sleep profiles in individuals with rare neurogenetic syndromes

Developmental Medicine &Child Neurology, EarlyView.
Aim To characterize sleep profiles in individuals with neurogenetic disorders (NGDs) and examine the contribution of key clinical and psychiatric symptoms to these profiles. Method The parents of 248 individuals (aged 3–45 years) diagnosed with a range of NGDs, including PTEN hamartoma tumor syndrome (n = 111), SYNGAP1‐related intellectual disability ...
Isabella C. Reyes, Thomas W. Frazier, Antonio Y. Hardan, Lacey Chetcuti, Samuel J. R. A. Chawner, Emily Spackman, Mirko Uljarević, Emma K. Baker   +7 more
wiley   +1 more source

Cadmium-Induced Neuroendocrine Alterations: Gene Expression of the Kisspeptin-GnRH Axis and Delayed Puberty in Male Rats. [PDF]

Toxics
Arteaga-Silva M, Cornejo de la Concha EM, Landero-Huerta DA, Montes S, Rojas-Castañeda JC, Vigueras-Villaseñor RM, Hernández-Rodríguez J, Marín de Jesús S, Pérez-Aguirre SG, López-Ruíz RT, Arrieta-Cruz I.   +10 more
europepmc   +1 more source

Genetic evaluation supports differential diagnosis in adolescent patients with delayed puberty. [PDF]

Eur J Endocrinol, 2021
Saengkaew T, Patel HR, Banerjee K, Butler G, Dattani MT, McGuigan M, Storr HL, Willemsen RH, Dunkel L, Howard SR.   +9 more
europepmc   +1 more source

Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia

Developmental Medicine &Child Neurology, EarlyView.
Optic nerve hypoplasia and septo‐optic‐pituitary dysplasia. Abstract The presence of a small optic disc on funduscopy is prerequisite for the diagnosis of optic nerve hypoplasia (ONH). Visual acuity may be normal. However, amblyopia can occur in ONH. A relative afferent pupillary light defect indicates unilateral or asymmetrical ONH.
Michael S. Salman
wiley   +1 more source

Haploinsufficiency of Sox2 causes fewer GnRH neurons and delayed puberty in mice. [PDF]

Endocrinology
Cassin J, Dunn GA, Nguyen RD, Chen V, Duong AX, Esparza LA, Tripuraneni I, Kauffman AS, Tonsfeldt KJ, Mellon PL.   +9 more
europepmc   +1 more source

Delayed puberty in boys in central Sweden: an observational study on diagnosing and management in clinical practice. [PDF]

BMJ Open, 2022
Rodanaki M, Rask E, Lodefalk M.
europepmc   +1 more source

Long‐term NSAID efficacy in haematological and bone manifestation of Ghosal haematodiaphyseal dysplasia: An expanded cohort

British Journal of Haematology, EarlyView.
Jonathan Bordat, Felipe Suarez, Matthieu Jestin, Guillaume Bonnard, Joy Benadiba, Stephane Vanderbecken, Thierry Molina, Valérie Cormier‐Daire, Regis Peffault de Latour, Marie Passet, Jean Soulier, Mathilde Doyard, Lise Larcher, Veronique Meignin, Flore Sicre de Fontbrune   +14 more
wiley   +1 more source