Publications:

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1560C>G

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

Update of the Pompe variant database for the prediction of clinical phenotypes: Novel disease-associated variants, common sequence variants, and results from newborn screening.

Human Mutation

de Faria, Douglas O S DOS; 't Groen, Stijn L M In SLMI; Hoogeveen-Westerveld, Marianne M; Nino, Monica Y MY; van der Ploeg, Ans T AT; Bergsma, Atze J AJ; Pijnappel, W W M Pim WWMP

Publication Date: 2021-02

Variant appearance in text: GAA: 1560C>G

PubMed Link: 33560568

Variant Present in the following documents:

• Main text
• HUMU-42-119.pdf

View BVdb publication page

GAA variants and phenotypes among 1,079 patients with Pompe disease: Data from the Pompe Registry.

Human Mutation

Reuser, Arnold J J AJJ; van der Ploeg, Ans T AT; Chien, Yin-Hsiu YH; Llerena, Juan J; Abbott, Mary-Alice MA; Clemens, Paula R PR; Kimonis, Virginia E VE; Leslie, Nancy N; Maruti, Sonia S SS; Sanson, Bernd-Jan BJ; Araujo, Roberto R; Periquet, Magali M; Toscano, Antonio A; Kishnani, Priya S PS; On Behalf Of The Pompe Registry Sites,

Publication Date: 2019-11

Variant appearance in text: GAA: 1560C>G; Asn520Lys

PubMed Link: 31342611

Variant Present in the following documents:

• HUMU-40-2146-s001.pdf

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Transcriptomic signature reveals mechanism of flower bud distortion in witches'-broom disease of soybean (Glycine max).

Bmc Plant Biology

Jaiswal, Sarika S; Jadhav, Pravin V PV; Jasrotia, Rahul Singh RS; Kale, Prashant B PB; Kad, Snehal K SK; Moharil, Mangesh P MP; Dudhare, Mahendra S MS; Kheni, Jashminkumar J; Deshmukh, Amit G AG; Mane, Shyamsundar S SS; Nandanwar, Ravindra S RS; Penna, Suprasanna S; Manjaya, Joy G JG; Iquebal, Mir Asif MA; Tomar, Rukam Singh RS; Kawar, Prashant G PG; Rai, Anil A; Kumar, Dinesh D

Publication Date: 2019-01-15

Variant appearance in text: GAA: 1560C>G

PubMed Link: 30646861

Variant Present in the following documents:

• 12870_2018_1601_MOESM7_ESM.xlsx, sheet 1

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Long-term exposure to Myozyme results in a decrease of anti-drug antibodies in late-onset Pompe disease patients.

Scientific Reports

Masat, Elisa E; Laforêt, Pascal P; De Antonio, Marie M; Corre, Guillaume G; Perniconi, Barbara B; Taouagh, Nadjib N; Mariampillai, Kuberaka K; Amelin, Damien D; Mauhin, Wladimir W; Hogrel, Jean-Yves JY; Caillaud, Catherine C; Ronzitti, Giuseppe G; Puzzo, Francesco F; Kuranda, Klaudia K; Colella, Pasqualina P; Mallone, Roberto R; Benveniste, Olivier O; Mingozzi, Federico F; ,

Publication Date: 2016-11-04

Variant appearance in text: GAA: 1560C>G

PubMed Link: 27812025

Variant Present in the following documents:

• srep36182-s1.pdf

View BVdb publication page