Search Results - "Korsch, E"

Comprehensive review of the duplication 3q syndrome and report of a patient with Currarino syndrome and de novo duplication 3q26.32‐q27.2 by Dworschak, G.C., Crétolle, C., Hilger, A., Engels, H., Korsch, E., Reutter, H., Ludwig, M.

“…Partial duplications of the long arm of chromosome 3, dup(3q), are a rare but well‐described condition, sharing features of Cornelia de Lange syndrome. Around…”
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Exploring Sibling Relationship Quality among Latinx Siblings: A Systematic Review by Holmes, Megan R, O'Donnell, Kari A, Lovato, Kristina, Kramer, Laurie, Korsch-Williams, Amy E, Herceg, Allison E, Stephens, Sylvia O

“…This systematic review addresses the gap in the literature regarding sibling relationship quality among Latinx families, a topic that has not been…”
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Innovations in Trauma-Informed Care: Building the Nation's First System of Trauma-Informed Recreation Centers by Holmes, Megan R, King, Jennifer A, Miller, Emily K, King-White, Dakota L, Korsch-Williams, Amy E, Johnson, Erica M, Oliver, Tomeika S, Conard, Ivan T

“…Exposure to adversity and traumatic events affects well-being across important domains of functioning, including mental, physical, social, emotional,…”
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Clinical and diagnostic approach in unsolved CDG patients with a type 2 transferrin pattern by Mohamed, M., Guillard, M., Wortmann, S.B., Cirak, S., Marklova, E., Michelakakis, H., Korsch, E., Adamowicz, M., Koletzko, B., van Spronsen, F.J., Niezen-Koning, K.E., Matthijs, G., Gardeitchik, T., Kouwenberg, D., Lim, B. Chan, Zeevaert, R., Wevers, R.A., Lefeber, D.J., Morava, E.

“…Dysmorphic features, multisystem disease, and central nervous system involvement are common symptoms in congenital disorders of glycosylation, including…”
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Novel insertion frameshift mutation of the LH receptor gene: problematic clinical distinction of Leydig cell hypoplasia from enzyme defects primarily affecting testosterone biosynthesis by Richter-Unruh, A, Korsch, E, Hiort, O, Holterhus, P M, Themmen, A P, Wudy, S A

“…Leydig cell hypoplasia (LCH) is a rare autosomal recessive condition that interferes with normal development of male external genitalia in 46,XY individuals…”
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Molecular features and clinical phenotypes in androgen insensitivity syndrome in the absence and presence of androgen receptor gene mutations by HOLTERHUS, P. M, WERNER, R, HOPPE, U, BASSLER, J, KORSCH, E, RANKE, M. B, DÖRR, H. G, HIORT, O

“…Androgen insensitivity syndrome (AIS) is characterized by deficient or absent virilization in 46,XY individuals despite normal or even elevated androgen…”
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Aphallia - report of two cases by Hagelschuer, P, Mack-Detlefsen, B, Korsch, E, Ekamp, A, Boemers, T M

“…Aphallia is an extremely rare congenital malformation of unknown cause. The incidence is reported in the literature to be 1 in 10-30 million live births…”
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Sexual steroids in prepubertal bone maturation by Korsch, Eckhard

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Natural rubber latex allergy : prevalence and risk factors in patients with spina bifida compared with atopic children and controls by CREMER, R, HOPPE, A, KORSCH, E, KLEINE-DIEPENBRUCK, U, BLÄKER, F

“…Type 1 allergy against natural rubber latex is an increasing problem in health care workers and children with spina bifida or urogenital malformations. The aim…”
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Systemic adverse effects of topical treatment with brimonidine in an infant with secondary glaucoma by Korsch, E, Grote, A, Seybold, M, Soditt, V

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Aphallie – zwei Fallbeispiele by Hagelschuer, P., Mack-Detlefsen, B., Korsch, E., Ekamp, A., Boemers, T. M.

“…Zusammenfassung Die Aphallie ist eine sehr seltene angeborene Fehlbildung unklarer Genese. Die Inzidenz wird in der Literatur mit 1:10–30 Mio. Lebendgeburten…”
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Childhood asthma knowledge among first year nursing students in three European cities by García-Marcos, L, Mughal, Z, Korsch, E, Martínez Torres, A, Abbott, J, Lyte, G, Klüser, M

“…There are no available studies that assess and compare knowledge of childhood asthma among subjects living in different European countries. The objective of…”
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Understanding How Relational Health Effects Intimate Partner Violence Perpetration among Low-Income, Black, Indigenous, Men of Color Exposed to Adverse Childhood Experiences: An Exploratory Study by Voith, Laura A, Lee, Hyunjune, Russell, Katie N, Korsch-Williams, Amy E

“…Relational health has emerged as a consistent factor that can mitigate the effects of trauma among children; however, less is known about relational health…”
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Satisfaction with Genital Surgery and Sexual Life of Adults with XY Disorders of Sex Development: Results from the German Clinical Evaluation Study by Köhler, Birgit, Kleinemeier, Eva, Lux, Anke, Hiort, Olaf, Grüters, Annette, Thyen, Ute, DSD Network Working Group

“…Background: Prenatal deficit of androgens or androgen action results in atypical genitalia in individuals with XY disorders of sex development (XY,DSD). XY,DSD…”
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Aggressives Verhalten von Eltern und Angehörigen gegenüber Krankenhausärzten in der Kinderheilkunde by KORSCH, E, BERG, D, MÜLLER, C, SUNDER, V, ELLIGER, T, WEISS, M

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Congenital Adrenal Hyperplasia Due to 11-Hydroxylase Deficiency: Functional Characterization of Two Novel Point Mutations and a Three-Base Pair Deletion in the CYP11B1 Gene by Krone, Nils, Riepe, Felix G., Götze, Dorothea, Korsch, Eckhard, Rister, Manfred, Commentz, Jens, Partsch, Carl-Joachim, Grötzinger, Joachim, Peter, Michael, Sippell, Wolfgang G.

“…Congenital adrenal hyperplasia is a group of autosomal recessive disorders second most often caused by deficiency of steroid 11-hydroxylase (CYP11B1) due to…”
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Neurological Phenotype in Waardenburg Syndrome Type 4 Correlates with Novel SOX10 Truncating Mutations and Expression in Developing Brain by Touraine, Renaud L., Attié-Bitach, Tania, Manceau, Eric, Korsch, Eckhard, Sarda, Pierre, Pingault, Véronique, Encha-Razavi, Féréchté, Pelet, Anna, Augé, Joelle, Nivelon-Chevallier, Annie, Holschneider, Alexander Mathias, Munnes, Marc, Doerfler, Walter, Goossens, Michel, Munnich, Arnold, Vekemans, Michel, Lyonnet, Stanislas

“…Waardenburg syndrome type 4 (WS4), also called Shah-Waardenburg syndrome, is a rare neurocristopathy that results from the absence of melanocytes and intrinsic…”
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Uterine size in women with Turner syndrome after induction of puberty with estrogens and long-term growth hormone therapy: results of the German IGLU Follow-up Study 2001 by Doerr, Helmuth G., Bettendorf, Markus, Hauffa, Berthold P., Mehls, Otto, Partsch, Carl-Joachim, Said, Elfriede, Sander, Sabine, Schwarz, Hans-Peter, Stahnke, Nikolaus, Steinkamp, Heiner, Ranke, Michael B.

“…BACKGROUND: To evaluate the factors influencing uterine size in young adult women with Turner syndrome (TS) after long-term growth hormone (GH) treatment…”
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Four New Cases of Congenital Secondary Hypothyroidism due to a Splice Site Mutation in the Thyrotropin-β Gene: Phenotypic Variability and Founder Effect by Borck, Guntram, Topaloglu, A. Kemal, Korsch, Eckhard, Martiné, Ursula, Wildhardt, Gabriele, Onenli-Mungan, Neslihan, Yuksel, Bilgin, Aumann, Ulrich, Koch, Gerhard, Ozer, Guler, Pfäffle, Roland, Scherberg, Neal H., Refetoff, Samuel, Pohlenz, Joachim

“…Isolated TSH deficiency is a rare cause of congenital hypothyroidism. We here report four children from two consanguineous Turkish families with isolated TSH…”
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Hypersensitivitätssyndrom durch Antikonvulsiva by BOLZ, M, KORSCH, E, CREMER, R, MERK, H, BLÄKER, F

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