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Showing 13 to 24 of 256 entries
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First Report of a Single Exon Deletion in TCOF1 Causing Treacher Collins Syndrome.

Molecular syndromology

Beygo J, Buiting K, Seland S, Lüdecke HJ, Hehr U, Lich C, Prager B, Lohmann DR, Wieczorek D.
PMID: 22712005
Mol Syndromol. 2012 Jan;2(2):53-59. doi: 10.1159/000335545. Epub 2012 Jan 26.

Treacher Collins syndrome (TCS) is a rare craniofacial disorder characterized by facial anomalies and ear defects. TCS is caused by mutations in the TCOF1 gene and follows autosomal dominant inheritance. Recently, mutations in the POLR1D and POLR1C genes have...

Iron in Restless Legs Syndrome.

Movement disorders clinical practice

Schulte EC, Kaffe M, Schormair B, Winkelmann J.
PMID: 30363981
Mov Disord Clin Pract. 2014 Jun 12;1(3):161-172. doi: 10.1002/mdc3.12047. eCollection 2014 Sep.

A link between restless legs syndrome (RLS) and iron has been recognized for several decades. Yet, the precise role that iron or other components of iron metabolism play in bringing about RLS is still a matter of debate. During...

Parental origin of deletions and duplications - about the necessity to check for cryptic inversions.

Molecular cytogenetics

Liehr T, Schreyer I, Kuechler A, Manolakos E, Singer S, Dufke A, Wilhelm K, Jančušková T, Čmejla R, Othman MAK, Al-Rikabi AH, Mrasek K, Ziegler M, Kankel S, Kreskowski K, Weise A.
PMID: 29541160
Mol Cytogenet. 2018 Mar 09;11:20. doi: 10.1186/s13039-018-0369-1. eCollection 2018.

BACKGROUND: Copy number variants (CNVs) are the genetic bases for microdeletion/ microduplication syndromes (MMSs). Couples with an affected child and desire to have further children are routinely tested for a potential parental origin of a specific CNV either by...

A Novel PKD1 Mutation Associated With Autosomal Dominant Kidney Disease and Cerebral Cavernous Malformation.

Frontiers in neurology

Thomas C, Zühlsdorf A, Hörtnagel K, Mulahasanovic L, Grauer OM, Kümpers P, Wiendl H, Meuth SG.
PMID: 29887830
Front Neurol. 2018 May 25;9:383. doi: 10.3389/fneur.2018.00383. eCollection 2018.

Autosomal dominant polycystic kidney disease (ADPKD) is a genetic disorder characterized by the presence of renal cysts and specific extrarenal abnormalities. ADPKD is caused by mutations in either

High-Throughput Testing of Urogenital and Extragenital Specimens for Detection of .

European journal of microbiology & immunology

Marlowe EM, Hardy D, Krevolin M, Gohl P, Bertram A, Arcenas R, Seiverth B, Schneider T, Liesenfeld O.
PMID: 29034107
Eur J Microbiol Immunol (Bp). 2017 Sep 11;7(3):176-186. doi: 10.1556/1886.2017.00018. eCollection 2017 Sep.

We compared the analytical and clinical performance of cobas

Glycogen Storage Disease Type IV: A Rare Cause for Neuromuscular Disorders or Often Missed?.

JIMD reports

Schene IF, Korenke CG, Huidekoper HH, van der Pol L, Dooijes D, Breur JMPJ, Biskup S, Fuchs SA, Visser G.
PMID: 30569318
JIMD Rep. 2019;45:99-104. doi: 10.1007/8904_2018_148. Epub 2018 Dec 20.

Advancements in genetic testing now allow early identification of previously unresolved neuromuscular phenotypes. To illustrate this, we here present diagnoses of glycogen storage disease IV (GSD IV) in two patients with hypotonia and delayed development of gross motor skills....

Dermatoglyphic patterns and pattern intensities of the genus Cacajao (Cebidae, platyrrhini) with observations on interspecific and subspecific differentiation.

American journal of primatology

Newell-Morris L, Wienker TF, Elias K.
PMID: 31964022
Am J Primatol. 1989;19(1):25-37. doi: 10.1002/ajp.1350190104.

Palmar and plantar dermatoglyphic pattern types, area and total pattern intensities (API and TPI), and pattern intensity (PI) profiles are presented for the South American genus Cacajao of the subfamily Pitheciinae. The data are based on prints from 41...

Birt-Hogg-Dubé-Syndrom: ein zu selten diagnostiziertes erbliches Tumorsyndrom.

Journal der Deutschen Dermatologischen Gesellschaft = Journal of the German Society of Dermatology : JDDG

Steinlein OK, Ertl-Wagner B, Ruzicka T, Sattler EC.
PMID: 29537155
J Dtsch Dermatol Ges. 2018 Mar;16(3):278-284. doi: 10.1111/ddg.13457_g.

Das Birt-Hogg-Dubé-Syndrom (BHD-Syndrom, eigentlich Hornstein-Knickenberg- Syndrom) ist ein autosomal dominant erbliches Tumorsyndrom, welches durch Mutationen im FLCN-Gen auf Chromosom 17 verursacht wird. Patienten mit BHD-Syndrom können altersabhängig verschiedene Symptome zeigen, deren Ausprägung auch innerhalb einer Familie unterschiedlich schwer sein...

Isolated Echogenic Cardiac Focus: Assessing Association with Trisomy 21 by Combining Results from a Prenatal Center with a Bayesian Meta-Analysis.

Ultrasound international open

Wrede E, Knippel AJ, Verde PE, Hammer R, Kozlowski P.
PMID: 32159071
Ultrasound Int Open. 2019 Nov;5(3):E98-E106. doi: 10.1055/a-1118-3974. Epub 2020 Mar 09.

No abstract available.

Interdisciplinary Diagnosis, Therapy and Follow-up of Patients with Endometrial Cancer. Guideline (S3-Level, AWMF Registry Number 032/034-OL, April 2018) - Part 2 with Recommendations on the Therapy and Follow-up of Endometrial Cancer, Palliative Care, Psycho-oncological/Psychosocial Care/Rehabilitation/Patient Information and Healthcare Facilities.

Geburtshilfe und Frauenheilkunde

Emons G, Steiner E, Vordermark D, Uleer C, Bock N, Paradies K, Ortmann O, Aretz S, Mallmann P, Kurzeder C, Hagen V, van Oorschot B, Höcht S, Feyer P, Egerer G, Friedrich M, Cremer W, Prott FJ, Horn LC, Prömpeler H, Langrehr J, Leinung S, Beckmann MW, Kimmig R, Letsch A, Reinhardt M, Alt-Epping B, Kiesel L, Menke J, Gebhardt M, Steinke-Lange V, Rahner N, Lichtenegger W, Zeimet A, Hanf V, Weis J, Mueller M, Henscher U, Schmutzler RK, Meindl A, Hilpert F, Panke JE, Strnad V, Niehues C, Dauelsberg T, Niehoff P, Mayr D, Grab D, Kreißl M, Witteler R, Schorsch A, Mustea A, Petru E, Hübner J, Rose AD, Wight E, Tholen R, Bauerschmitz GJ, Fleisch M, Juhasz-Boess I, Lax S, Runnebaum I, Tempfer C, Nothacker MJ, Blödt S, Follmann M, Langer T, Raatz H, Wesselmann S, Erdogan S.
PMID: 30581199
Geburtshilfe Frauenheilkd. 2018 Nov;78(11):1089-1109. doi: 10.1055/a-0715-2964. Epub 2018 Nov 26.

No abstract available.

Interdisciplinary Screening, Diagnosis, Therapy and Follow-up of Breast Cancer. Guideline of the DGGG and the DKG (S3-Level, AWMF Registry Number 032/045OL, December 2017) - Part 2 with Recommendations for the Therapy of Primary, Recurrent and Advanced Breast Cancer.

Geburtshilfe und Frauenheilkunde

Wöckel A, Festl J, Stüber T, Brust K, Krockenberger M, Heuschmann PU, Jírů-Hillmann S, Albert US, Budach W, Follmann M, Janni W, Kopp I, Kreienberg R, Kühn T, Langer T, Nothacker M, Scharl A, Schreer I, Link H, Engel J, Fehm T, Weis J, Welt A, Steckelberg A, Feyer P, König K, Hahne A, Baumgartner T, Kreipe HH, Knoefel WT, Denkinger M, Brucker S, Lüftner D, Kubisch C, Gerlach C, Lebeau A, Siedentopf F, Petersen C, Bartsch HH, Schulz-Wendtland R, Hahn M, Hanf V, Müller-Schimpfle M, Henscher U, Roncarati R, Katalinic A, Heitmann C, Honegger C, Paradies K, Bjelic-Radisic V, Degenhardt F, Wenz F, Rick O, Hölzel D, Zaiss M, Kemper G, Budach V, Denkert C, Gerber B, Tesch H, Hirsmüller S, Sinn HP, Dunst J, Münstedt K, Bick U, Fallenberg E, Tholen R, Hung R, Baumann F, Beckmann MW, Blohmer J, Fasching P, Lux MP, Harbeck N, Hadji P, Hauner H, Heywang-Köbrunner S, Huober J, Hübner J, Jackisch C, Loibl S, Lück HJ, von Minckwitz G, Möbus V, Müller V, Nöthlings U, Schmidt M, Schmutzler R, Schneeweiss A, Schütz F, Stickeler E, Thomssen C, Untch M, Wesselmann S, Bücker A, Buck A, Stangl S.
PMID: 30581198
Geburtshilfe Frauenheilkd. 2018 Nov;78(11):1056-1088. doi: 10.1055/a-0646-4630. Epub 2018 Nov 26.

No abstract available.

CD38 as Immunotherapeutic Target in Light Chain Amyloidosis and Multiple Myeloma-Association With Molecular Entities, Risk, Survival, and Mechanisms of Upfront Resistance.

Frontiers in immunology

Seckinger A, Hillengass J, Emde M, Beck S, Kimmich C, Dittrich T, Hundemer M, Jauch A, Hegenbart U, Raab MS, Ho AD, Schönland S, Hose D.
PMID: 30079070
Front Immunol. 2018 Jul 20;9:1676. doi: 10.3389/fimmu.2018.01676. eCollection 2018.

Monoclonal antibodies against the cell surface antigen CD38, e.g., isatuximab, daratumumab, or Mor202, have entered the therapeutic armamentarium in multiple myeloma due to single agent overall response rates of 29 vs. 36 vs. 31%, effectivity in combination regimen, e.g.,...

Showing 13 to 24 of 256 entries