Browsing by Author "Santos-Simarro, F."

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Congenital generalized lipodystrophy: identification of novel variants and expansion of clinical spectrum.

Haghighi, A.; Kavehmanesh, Z.; Haghighi, A.; Salehzadeh, F.; Santos-Simarro, F.; Van Maldergem, L.; Cimbalistiene, L.; Collins, F.; Chopra, M.; Al-Sinani, S.; Dastmalchian, S.; de Silva, D.C.; Bakhti, H.; Garg, A.; Hilbert, P. (John Wiley & Sons, 2016)

Congenital generalized lipodystrophy (CGL) is an autosomal recessive disorder with two major subtypes. Variants in AGPAT2 result in CGL type 1 with milder manifestations, whereas BSCL2 variants cause CGL type 2 with more ...
Noncoding copy-number variations are associated with congenital limb malformation

Flöttmann, R.; Kragesteen, B.K.; Geuer, S.; Socha, M.; Allou, L.; Sowińska-Seidler, A.; Bosquillon de Jarcy, L.; Wagner, J.; Jamsheer, A.; Oehl-Jaschkowitz, B.; Wittler, L.; de Silva, D.; Kurth, I.; Maya, I.; Santos-Simarro, F.; Hülsemann, W.; Klopocki, E.; Mountford, R.; Fryer, A.; Borck, G.; Horn, D.; Lapunzina, P.; Wilson, M.; Mascrez, B.; Duboule, D.; Mundlos, S.; Spielmann, M. (Nature Publishing Group, 2018)

PurposeCopy-number variants (CNVs) are generally interpreted by linking the effects of gene dosage with phenotypes. The clinical interpretation of noncoding CNVs remains challenging. We investigated the percentage of ...

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