7 Einträge gefunden

1. Syndromic disorders caused by gain-of-function variants in KCNH1, KCNK4, and KCNN3-a subgroup of K+ channelopathies

   1. Gripp, Karen W
   2. Smithson, Sarah F
   3. Scurr, Ingrid J
   4. Baptista, Julia
   5. Majumdar, Anirban
   6. Pierre, Germaine
   7. Williams, Maggie

   2021 - Forschungsinformationssystem des UKE - frei zugänglich
2. The novel duplication HRAS c.186_206dup p.(Glu62_Arg68dup): clinical and functional aspects

   1. Gripp, Karen W
   2. Baker, Laura
   3. Robbins, Katherine M
   4. Stabley, Deborah L
   5. Bellus, Gary A
   6. Kolbe, Verena
   7. Nauth, Theresa

   2020 - Forschungsinformationssystem des UKE
3. Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca²⁺-Activated K⁺ Channel SK3 Cause Zimmermann-Laband Syndrome

   1. Bauer, Christiane K
   2. Schneeberger, Pauline E
   3. Kortüm, Fanny
   4. Altmüller, Janine
   5. Santos-Simarro, Fernando
   6. Baker, Laura
   7. Keller-Ramey, Jennifer

   2019 - Forschungsinformationssystem des UKE
4. Attenuated phenotype of Costello syndrome and early death in a patient with an HRAS Mutation (c.179G>T; p.Gly60Val) affecting signalling dynamics

   1. Gripp, Karen W
   2. Kolbe, Verena
   3. Brandenstein, Laura Isabel
   4. Rosenberger, Georg

   2017 - Forschungsinformationssystem des UKE
5. An attenuated phenotype of Costello syndrome in three unrelated individuals with a HRAS c.179G>A (p.Gly60Asp) mutation correlates with uncommon functional consequences

   1. Gripp, Karen W
   2. Sol-Church, Katia
   3. Smpokou, Patroula
   4. Graham, Gail E
   5. Stevenson, David A
   6. Hanson, Heather
   7. Viskochil, David H

   2015 - Forschungsinformationssystem des UKE
6. De novo germline and postzygotic mutations in AKT3, PIK3R2 and PIK3CA cause a spectrum of related megalencephaly syndromes.

   1. Rivière, Jean-Baptiste
   2. Mirzaa, Ghayda M
   3. O'Roak, Brian J
   4. Beddaoui, Margaret
   5. Alcantara, Diana
   6. Conway, Robert L
   7. St-Onge, Judith

   2012 - Forschungsinformationssystem des UKE
7. A novel HRAS substitution (c.266C>G; p.S89C) resulting in decreased downstream signaling suggests a new dimension of RAS pathway dysregulation in human development.

   1. Gripp, Karen W
   2. Bifeld, Eugenia
   3. Stabley, Deborah L
   4. Hopkins, Elizabeth
   5. Meien, Stefanie
   6. Vinette, Kathy
   7. Sol-Church, Katia

   2012 - Forschungsinformationssystem des UKE