Literature DB >> 17366584

What to call a syndrome.

Raoul C M Hennekam1.   

Abstract

Mesh：

Year:  2007        PMID： 17366584     DOI： 10.1002/ajmg.a.31674

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN： 1552-4825            Impact factor:   2.802


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  6 in total

Review 1.  Array comparative genomic hybridization and genomic sequencing in the diagnostics of the causes of congenital anomalies.

Authors:  Krzysztof Szczałuba; Urszula Demkow
Journal:  J Appl Genet       Date:  2016-11-18       Impact factor: 3.240

2.  Cerebellar hypoplasia with endosteal sclerosis is a POLR3-related disorder.

Authors:  Jamal Ghoumid; Florence Petit; Odile Boute-Benejean; Frédéric Frenois; Maryse Cartigny; Clémence Vanlerberghe; Thomas Smol; Roseline Caumes; Nicolas de Roux; Sylvie Manouvrier-Hanu
Journal:  Eur J Hum Genet       Date:  2017-06-07       Impact factor: 4.246

3.  Delineation and diagnostic criteria of Oral-Facial-Digital Syndrome type VI.

Authors:  Andrea Poretti; Giuseppina Vitiello; Raoul C M Hennekam; Filippo Arrigoni; Enrico Bertini; Renato Borgatti; Francesco Brancati; Stefano D'Arrigo; Francesca Faravelli; Lucio Giordano; Thierry A G M Huisman; Miriam Iannicelli; Gerhard Kluger; Marten Kyllerman; Magnus Landgren; Melissa M Lees; Lorenzo Pinelli; Romina Romaniello; Ianina Scheer; Christoph E Schwarz; Ronen Spiegel; Daniel Tibussek; Enza Maria Valente; Eugen Boltshauser
Journal:  Orphanet J Rare Dis       Date:  2012-01-11       Impact factor: 4.123

4.  Dental approach to craniofacial syndromes: how can developmental fields show us a new way to understand pathogenesis?

Authors:  Inger Kjær
Journal:  Int J Dent       Date:  2012-10-02

Review 5.  Diagnosis and management of Cornelia de Lange syndrome: first international consensus statement.

Authors:  Antonie D Kline; Joanna F Moss; Angelo Selicorni; Anne-Marie Bisgaard; Matthew A Deardorff; Peter M Gillett; Stacey L Ishman; Lynne M Kerr; Alex V Levin; Paul A Mulder; Feliciano J Ramos; Jolanta Wierzba; Paola Francesca Ajmone; David Axtell; Natalie Blagowidow; Anna Cereda; Antonella Costantino; Valerie Cormier-Daire; David FitzPatrick; Marco Grados; Laura Groves; Whitney Guthrie; Sylvia Huisman; Frank J Kaiser; Gerritjan Koekkoek; Mary Levis; Milena Mariani; Joseph P McCleery; Leonie A Menke; Amy Metrena; Julia O'Connor; Chris Oliver; Juan Pie; Sigrid Piening; Carol J Potter; Ana L Quaglio; Egbert Redeker; David Richman; Claudia Rigamonti; Angell Shi; Zeynep Tümer; Ingrid D C Van Balkom; Raoul C Hennekam
Journal:  Nat Rev Genet       Date:  2018-10       Impact factor: 53.242

6.  Clinical value of a screening tool for tumor predisposition syndromes in childhood cancer patients (TuPS): a prospective, observational, multi-center study.

Authors:  Raoul C Hennekam; Johannes H M Merks; Floor A M Postema; Saskia M J Hopman; Corianne A J M de Borgie; Cora M Aalfs; Jakob K Anninga; Lieke P V Berger; Fonnet E Bleeker; Charlotte J Dommering; Natasha K A van Eijkelenburg; Peter Hammond; Marry M van den Heuvel-Eibrink; Janna A Hol; Wijnanda A Kors; Tom G W Letteboer; Jan L C M Loeffen; Lisethe Meijer; Maran J W Olderode-Berends; Anja Wagner
Journal:  Fam Cancer       Date:  2021-03-09       Impact factor: 2.375
  6 in total

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