Search Results - "Rohmann, E"

BTNL2 gene variant and sarcoidosis by Li, Y, Wollnik, B, Pabst, S, Lennarz, M, Rohmann, E, Gillissen, A, Vetter, H, Grohé, C

“…None of the individuals in the control group (healthy white German subjects of mean age 38.32 (15.53) years) had a history of lung disease or showed any…”
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A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomaldominant inherited congenital heart disease by Pabst, S., Wollnik, B., Rohmann, E., Hintz, Y., Glänzer, K., Vetter, H., Nickenig, G., Grohé, Christian

“…We report on a familial screen of five female members in three generations affected by an autosomal-dominant inherited atrioventricular (AV) conduction block…”
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Skewed X inactivation in an X linked nystagmus family resulted from a novel, p.R229G, missense mutation in the FRMD7 gene by Kaplan, Y, Vargel, I, Kansu, T, Akin, B, Rohmann, E, Kamaci, S, Uz, E, Ozcelik, T, Wollnik, B, Akarsu, N A

“…This study aimed to identify the underlying genetic defect of a large Turkish X linked nystagmus (NYS) family. Both Xp11 and Xq26 loci were tested by linkage…”
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DMP05 Genetic analysis of a large family with idiopathic congenital motor nystagmus reveals a novel missense mutation by Kaplan, Y, Vargel, Kansu, T, Akin, B, Rohmann, E, Kamaci, S, Uz, E, Özçelik, T, Wollnik, B, Akarsu, N

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Mutations in different components of FGF signaling in LADD syndrome by Wollnik, Bernd, Rohmann, Edyta, Brunner, Han G, Kayserili, Hülya, Uyguner, Oya, Nürnberg, Gudrun, Lew, Erin D, Dobbie, Angus, Eswarakumar, Veraragavan P, Uzumcu, Abdullah, Ulubil-Emeroglu, Melike, Leroy, Jules G, Li, Yun, Becker, Christian, Lehnerdt, Kai, Cremers, Cor W R J, Yüksel-Apak, Memnune, Nürnberg, Peter, Kubisch, Christian, Schlessinger, Joseph, van Bokhoven, Hans

“…Lacrimo-auriculo-dento-digital (LADD) syndrome is characterized by lacrimal duct aplasia, malformed ears and deafness, small teeth and digital anomalies. We…”
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Structural basis for reduced FGFR2 activity in LADD syndrome: Implications for FGFR autoinhibition and activation by Lew, Erin D, Bae, Jae Hyun, Rohmann, Edyta, Wollnik, Bernd, Schlessinger, Joseph

“…Mutations in fibroblast growth factor receptor 2 (FGFR2) and its ligand, FGF10, are known to cause lacrimo-auriculo-dento-digital (LADD) syndrome. Multiple…”
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A novel stop mutation truncating critical regions of the cardiac transcription factor NKX2-5 in a large family with autosomal-dominant inherited congenital heart disease by Pabst, S, Wollnik, B, Rohmann, E, Hintz, Y, Glänzer, K, Vetter, H, Nickenig, G, Grohé, C

“…We report on a familial screen of five female members in three generations affected by an autosomal-dominant inherited atrioventricular (AV) conduction block…”
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Echoencephalographic longitudinal study on the ventricular system of premature infants in the first year of life. 1 by Rohmann, E

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Results of early education of developmentally delayed infants and young children by parents with a clinical rehabilitation program by Müller, E, Westphal, B C, Rohmann, E

“…Early registration of disturbances in the development of infants was based on neurological examination. Since 1984 exists the possibility of psychological…”
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A study on the Rett syndrome in the GDR by Külz, J, Rohmann, E, Hobusch, D

“…Of 44 subjects identified by the screening procedure, 31 were enrolled in the study. Using the modified Vienna Rett score, we divided the patients into three…”
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Pediatrics in Angola by Rohmann, E

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Significance of damaging factors in development of early infantile brain damage by Rohmann, E

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Prognosis of complicated febrile convulsions in therapy with primidone, cathine-phenobarbital and calcium valproinate by Rohmann, E, Sengbusch, S, Hobusch, D, Popp, K, Schwebke, D

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Neurotoxic side-effects of piperazine derivatives in electroencephalography. 3. Animal experimental studies on rabbits by Külz, J, Rohmann, E

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Significance of echoencephalography in pediatrics by Rohmann, E

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Clinical picture in mumps meningoencephalitis with special reference to therapy by Rohmann, E

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On the significance of the electroencephalographic picture in glycol poisoning (glysantin) by Rohmann, E

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Glycosphingolipids in patients with the Rett syndrome by Chatterjee, S, Ghosh, N, Goh, K M, Rohmann, E, Killian, W, Rett, A

“…We have pursued two blind studies on the plasma glycosphingolipids in patients with the Rett syndrome (RS), other disorders and normal individuals from…”
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The prognosis of encephalitis in childhood by Rusche, T, Külz, J, Hobusch, D, Wagner, K D, Rohmann, E

“…Follow-up examination of 95 former patients who had been suffering from encephalitis in infancy were performed. The coincidence of disturbance of…”
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Echoencephalographic longitudinal study of the ventricular system in premature infants in the first year of life. 2 by Rohmann, E, Schwebke, D, Plath, C

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