Concepedia

COQ6 Mutations in Children With Steroid-Resistant Focal Segmental Glomerulosclerosis and Sensorineural Hearing Loss

Eujin Park, Yo Han Ahn, Hee Gyung Kang, Kee Hwan Yoo, Nam Hee Won, Kyung Chul Moon, Moon‐Woo Seong, Tae rin Gwon, Sung Sup Park, Hae Il Cheong

American Journal of Kidney Diseases · 2017 · 52 citations · 22 references

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22

Germline mutations in the Wilms' tumor suppressor gene are associated with abnormal urogenital development in Denys-Drash syndrome

Jerry Pelletier, Wendy Bruening, Clifford E. Kashtan et al. · Cell · 1991 · 954 citations

, , +17

A Single-Gene Cause in 29.5% of Cases of Steroid-Resistant Nephrotic Syndrome

Carolin E. Sadowski, Svjetlana Lovric, Shazia Ashraf et al. · Journal of the American Society of Nephrology · 2014 · 655 citations · Full text

, , +17

Mutations in LMX1B cause abnormal skeletal patterning and renal dysplasia in nail patella syndrome

Sandra D. Dreyer, Guang Zhou, Antonio Baldini et al. · Nature Genetics · 1998 · 530 citations

, , +15

Human laminin β2 deficiency causes congenital nephrosis with mesangial sclerosis and distinct eye abnormalities

Martin Zenker, Thomas Aigner, Olaf Wendler et al. · Human Molecular Genetics · 2004 · 499 citations

, , +17

Mutations in MYH9 result in the May-Hegglin anomaly, and Fechtner and Sebastian syndromes

The May-Hegglin Fechtner Syndrome Consortium · Nature Genetics · 2000 · 448 citations

, , +8