Literature DB >> 17343268

Exclusion of OGDH and BMP4 as candidate genes in two siblings with autosomal recessive DOOR syndrome.

Yolande van Bever1, Wendy Balemans, Els L I M Duval, Ann Jespers, François Eyskens, Wim van Hul, Winnie Courtens.   

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Year:  2007        PMID: 17343268     DOI: 10.1002/ajmg.a.31641

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


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  2 in total

1.  Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.

Authors:  Yoshiko Murakami; Thi Tuyet Mai Nguyen; Nissan Baratang; Praveen K Raju; Alexej Knaus; Sian Ellard; Gabriela Jones; Baiba Lace; Justine Rousseau; Norbert Fonya Ajeawung; Atsushi Kamei; Gaku Minase; Manami Akasaka; Nami Araya; Eriko Koshimizu; Jenneke van den Ende; Florian Erger; Janine Altmüller; Zita Krumina; Jurgis Strautmanis; Inna Inashkina; Janis Stavusis; Areeg El-Gharbawy; Jessica Sebastian; Ratna Dua Puri; Samarth Kulshrestha; Ishwar C Verma; Esther M Maier; Tobias B Haack; Anil Israni; Julia Baptista; Adam Gunning; Jill A Rosenfeld; Pengfei Liu; Marieke Joosten; María Eugenia Rocha; Mais O Hashem; Hesham M Aldhalaan; Fowzan S Alkuraya; Satoko Miyatake; Naomichi Matsumoto; Peter M Krawitz; Elsa Rossignol; Taroh Kinoshita; Philippe M Campeau
Journal:  Am J Hum Genet       Date:  2019-06-27       Impact factor: 11.025

2.  The genetic basis of DOORS syndrome: an exome-sequencing study.

Authors:  Philippe M Campeau; Dalia Kasperaviciute; James T Lu; Lindsay C Burrage; Choel Kim; Mutsuki Hori; Berkley R Powell; Fiona Stewart; Têmis Maria Félix; Jenneke van den Ende; Marzena Wisniewska; Hülya Kayserili; Patrick Rump; Sheela Nampoothiri; Salim Aftimos; Antje Mey; Lal D V Nair; Michael L Begleiter; Isabelle De Bie; Girish Meenakshi; Mitzi L Murray; Gabriela M Repetto; Mahin Golabi; Edward Blair; Alison Male; Fabienne Giuliano; Ariana Kariminejad; William G Newman; Sanjeev S Bhaskar; Jonathan E Dickerson; Bronwyn Kerr; Siddharth Banka; Jacques C Giltay; Dagmar Wieczorek; Anna Tostevin; Joanna Wiszniewska; Sau Wai Cheung; Raoul C Hennekam; Richard A Gibbs; Brendan H Lee; Sanjay M Sisodiya
Journal:  Lancet Neurol       Date:  2013-11-29       Impact factor: 44.182

  2 in total

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