Results 121 to 130 of about 58,220 (206)

Journalismus und Presse im Film : eine Filmographie [PDF]

, 2010
Journalismus und Presse im Film: Eine Filmographie.
Wulff, Hans Jürgen
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Novel DNA methylation profiles associated with key gene regulation and transcription pathways in blood and placenta of growth-restricted neonates [PDF]

, 2014
BB/H012494/1/ Biotechnology and Biological Sciences Research ...
Barg E, Bejamini Y, Chris Mathews, David J Williams, Graham A Hitman, Melissa C Smart, Robert Lowe, Sara L Hillman, Sarah Finer, Smyth GK, Vardhman K Rakyan   +10 more
core   +3 more sources

The Case of Dilated Cardiomiopathy, the Girl of Three Years from the Silver-Rassel Syndrom

Медицинский вестник Юга России, 2012
Dilated cardiomyopathy is a serious disabling disease with unclear etiology. In some cases, its occurrence is associated with genetic mutations. In this context the case of dilated cardiomyopathy of the three years old girl from the Silver-Russell ...
A. A. Lebedenko, A. M. Sarichev, E. A. Tarasova, T. A. Yanovskaya, E. V. Nosova, A. V. Kharlamova   +5 more
doaj  

HMGA2 variants in Silver-Russell syndrome: homozygous and heterozygous occurrence.

Journal of Clinical Endocrinology and Metabolism, 2020
CONTEXT Silver-Russell syndrome (SRS) is a clinical and molecular heterogeneous disorder, associated with short stature, typical facial gestalt, and body asymmetry.
C. Hübner, R. Meyer, Asmaa Kenawy, L. Ambrozaitytė, A. Matulevičienė, Florian Kraft, M. Begemann, M. Elbracht, T. Eggermann   +8 more
semanticscholar   +1 more source

Molecular and clinical studies in 138 Japanese patients with Silver-Russell syndrome.

PLoS ONE, 2013
BackgroundRecent studies have revealed relative frequency and characteristic phenotype of two major causative factors for Silver-Russell syndrome (SRS), i.e. epimutation of the H19-differentially methylated region (DMR) and uniparental maternal disomy 7 (
Tomoko Fuke, Seiji Mizuno, Toshiro Nagai, Tomonobu Hasegawa, Reiko Horikawa, Yoko Miyoshi, Koji Muroya, Tatsuro Kondoh, Chikahiko Numakura, Seiji Sato, Kazuhiko Nakabayashi, Chiharu Tayama, Kenichiro Hata, Shinichiro Sano, Keiko Matsubara, Masayo Kagami, Kazuki Yamazawa, Tsutomu Ogata   +17 more
doaj   +1 more source

Corticotropin-releasing hormone as the homeostatic rheostat of feto-maternal symbiosis and developmental programming In utero and neonatal life [PDF]

, 2017
A balanced interaction between the homeostatic mechanisms of mother and the devel- oping organism during pregnancy and in early neonatal life is essential in order to ensure optimal fetal development, ability to respond to various external and internal ...
Alcantara-Alonso, Alexander, Arborelius, Bale, Baram, Barker, Bellisario, Benjamin Neelon, Bosch, Bouret, Bowman, Briana, Brummelte, Brunson, Brunton, Brunton, Brunton, Brunton, Capron, Chen, Chen, Choy, Cirulli, Cirulli, Class, Clifton, Cottrell, Dallman, Davis, de Weerth, Demendi, Desai, Dimasuay, Dunkel, D’Amato, Eghbal-Ahmadi, Ehlers, Ellman, Entringer, Fasting, Faturi, Fenoglio, Gao, Gillman, Glynn, Gomez-Roig, Grammatopoulos, Gunnar, Harville, Hollrigel, Husum, Ibanez, Kammerer, Kensara, Korosi, Labonte, Ladyman, Larsen, Lee, Lockwood, Machado, MacKay, Maffeis, Magiakou, Maniam, Marciniak, McLean, Mingrone, Owens, Pasquali, Paternain, Pedersen, Pelleymounter, Peng, Perrone, Pervanidou, Petraglia, Pihoker, Plotsky, Purcell, Robinson, Romens, Sanchez, Sandman, Sandman, Schmidt, Schulte, Seckl, Seckl, Sferruzzi-Perri, Shapiro, Singh-Taylor, Smith, Soma-Pillay, Stout, Suderman, Sun, Symonds, Tamashiro, Turecki, van Bodegom, Vazquez, Vickers, Wadhwa, Wakahashi, Walker, Wang, Weaver, Weaver, Weinstock, Whitaker, Whitehead, Wolfe, Yam, Zambrano   +114 more
core   +3 more sources

A rare case of Silver-Russell syndrome associated with growth hormone deficiency and urogenital abnormalities

Indian Journal of Endocrinology and Metabolism, 2012
Introduction: Silver-Russell syndrome (SRS) is a very rare genetic disorder. This is usually characterized by asymmetry in the size of the two halves or other parts of the body.
Namburi Rajendra Prasad, Ponnala Amaresh Reddy, T S Karthik, Mithun Chakravarthy, Faizal Ahmed   +4 more
doaj   +1 more source

Wachstumsstörungen als Leitsymptom [PDF]

, 2018
Zusammenfassung: Kleinwuchs als Leitsymptom stellt eine häufige Fragestellung sowohl in der humangenetischen als auch in der pädiatrischen Sprechstunde dar. Definiert ist Kleinwuchs als eine Körperhöhe unter der 3.Perzentile der Norm bzw.
Rauch, A., Thiel, C.
core  

Subcellular localization of the five members of the human steroid 5α-reductase family [PDF]

, 2017
In humans the steroid 5a-reductase (SRD5A) family comprises five integral membrane enzymes that carry out reduction of a double bond in lipidic substrates: D4-3-keto steroids, polyprenol and trans-enoyl CoA.
Asteriti, ITALIA ANNA, Bruni, Renato, Cerutti, Gabriele, Lavia, Patrizia, Mancia, Filippo, Montemiglio, LINDA CELESTE, Parisi, Giacomo, Savino, Carmelinda, Scaglione, Antonella, Testi, Claudia, Vallone, Beatrice   +10 more
core   +3 more sources

SILVER-RUSSELL SYNDROME IN COMBINATION WITH INFANTILE CEREBRAL PALSY: CLINICAL OBSERVATION

Медицина в Кузбассе
A case of combination a rare genetic pathology – Silver-Russell syndrome – with cerebral palsy in three-year-old child is described. The cause of this syndrome is loss of chromosome’s 11p15 (11p15LOM) methylation, maternal uni-parental disomy of ...
Нина Геннадьевна Коновалова, Оксана Евгеньевна Жарская, Ольга Александровна Загородникова, Елена Алексеевна Полукарова   +3 more
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