The Challenge of Prenatal Diagnostic Work-Up of Maternally Inherited X-Linked Opitz G/BBB: Case Report and Literature Review

Background. Prenatal diagnosis of Optiz G/BBB syndrome (OS) is challenging because the characteristic clinical features, such as facial and genitourinary anomalies, may be subtle at sonography and rather unspecific. Furthermore, molecular testing of the disease gene is not routinely performed, unless a specific diagnosis is suggested. Method. Both familial and ultrasound data were used to achieve the diagnosis of X-linked OS (XLOS), which was confirmed by molecular testing of MID1 gene (Xp22.3) at birth. Results. Sequencing of MID1 gene disclosed the nucleotide change c.1285 +1 G>T, previously associated with XLOS. Conclusions. This case illustrates current challenges of the prenatal diagnostic work-up of XLOS and exemplifies how clinical investigation, including family history, and accurate US foetal investigations can lead to the correct diagnosis.

Ein Symposium der Forschung [Rezension] : Occident and Orient. Being Studies in Semitic Philology and Literature, Jewish History, Philosophy and Folklore in the widest sense. In Honour of Haham Dr. Gasters 80. Birthday ed. by Bruno Schindler and A. Marmorstein. Taylors Foreign Press, London 1937

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The history and literature of the Israelites according to the Old Testament and the Apocrypha

by C[onstance] and A[nna] de Rothschild

Transactions of the Maryland Academy of Science and Literature.

1

Debating the European debt crisis: Government leadership, party ideology and supranational integration as focal points of parliamentary debates in Austria, Germany and the United Kingdom. ACES Cases No. 2012.3

Parliamentary debates about the resolution of the EU debt crisis seem to provide a good example for the frequently assumed “politicizationˮ of European governance. Against this background, the paper argues that in order to make sense of this assumption, a clearer differentiation of three thematic focal points of controversies – with regard to the assessment of government leadership, concerning the debate between competing party ideologies within the left/right dimension, and with regard to the assessment of supranational integration – is needed. Applying this threefold distinction, the paper uses a theory of differential Europeanization to explain differences in the thematic structure of debates in the Austrian Nationalrat, the British House of Commons, and the German Bundestag. Empirically, the paper is based on data gained from the computer-based coding of plenary debates about the resolution of the European debt crisis between 2010 and 2011.

Methodism and literature; a series of articles from several writers on the literary enterprise and achievements of the Methodist Episcopal Church.

Includes index.

Texts and studies in Jewish history and literature,

Errata slip inserted between p. [vii] and viii of v. 1 and p. [iv] and v of v. 2.

The Manly anniversary studies in language and literature.

"Presented to John Matthews Manly by his students and associates on the completion of his twenty-fifth year as head of the Department of English in the University of Chicago."

Philology and literature series.

Each no. has also a distinctive title.

Art in costume design : practical suggestions for those interested in art, sewing, history and literature /

Mode of access: Internet.

Subject scope and literature coverage of nuclear science abstracts.

Cover title.