Denecke J - Search Results

1

Mapping candidate regions and genes for congenital anomalies of the kidneys and urinary tract (CAKUT) by array-based comparative genomic hybridization.

Weber S, Landwehr C, Renkert M, Hoischen A, Wühl E, Denecke J, Radlwimmer B, Haffner D, Schaefer F, Weber RG. Weber S, et al. Among authors: denecke j. Nephrol Dial Transplant. 2011 Jan;26(1):136-43. doi: 10.1093/ndt/gfq400. Epub 2010 Jul 5. Nephrol Dial Transplant. 2011. PMID: 20605837

2

Phenotypic and molecular insights into CASK-related disorders in males.

Moog U, Bierhals T, Brand K, Bautsch J, Biskup S, Brune T, Denecke J, de Die-Smulders CE, Evers C, Hempel M, Henneke M, Yntema H, Menten B, Pietz J, Pfundt R, Schmidtke J, Steinemann D, Stumpel CT, Van Maldergem L, Kutsche K. Moog U, et al. Among authors: denecke j. Orphanet J Rare Dis. 2015 Apr 12;10:44. doi: 10.1186/s13023-015-0256-3. Orphanet J Rare Dis. 2015. PMID: 25886057 Free PMC article.

3

De Novo Mutations in CHAMP1 Cause Intellectual Disability with Severe Speech Impairment.

Hempel M, Cremer K, Ockeloen CW, Lichtenbelt KD, Herkert JC, Denecke J, Haack TB, Zink AM, Becker J, Wohlleber E, Johannsen J, Alhaddad B, Pfundt R, Fuchs S, Wieczorek D, Strom TM, van Gassen KL, Kleefstra T, Kubisch C, Engels H, Lessel D. Hempel M, et al. Among authors: denecke j. Am J Hum Genet. 2015 Sep 3;97(3):493-500. doi: 10.1016/j.ajhg.2015.08.003. Am J Hum Genet. 2015. PMID: 26340335 Free PMC article.

4

Exome sequencing is a valuable approach in critically ill patients with suspected monogenic disease: Diagnosis of X-linked centronuclear myopathy in preterm twins.

Johannsen J, Hempel M, Diehl T, Haack TB, Denecke J. Johannsen J, et al. Among authors: denecke j. Pediatr Neonatol. 2017 Oct;58(5):458-459. doi: 10.1016/j.pedneo.2016.05.007. Epub 2016 Nov 22. Pediatr Neonatol. 2017. PMID: 27989427 Free article. No abstract available.

5

First de novo ANK3 nonsense mutation in a boy with intellectual disability, speech impairment and autistic features.

Kloth K, Denecke J, Hempel M, Johannsen J, Strom TM, Kubisch C, Lessel D. Kloth K, et al. Among authors: denecke j. Eur J Med Genet. 2017 Sep;60(9):494-498. doi: 10.1016/j.ejmg.2017.07.001. Epub 2017 Jul 4. Eur J Med Genet. 2017. PMID: 28687526

6

Survival beyond the perinatal period expands the phenotypes caused by mutations in GLE1.

Said E, Chong JX, Hempel M, Denecke J, Soler P, Strom T, Nickerson DA, Kubisch C; University of Washington Center for Mendelian Genomics; Bamshad MJ, Lessel D. Said E, et al. Among authors: denecke j. Am J Med Genet A. 2017 Nov;173(11):3098-3103. doi: 10.1002/ajmg.a.38406. Epub 2017 Sep 8. Am J Med Genet A. 2017. PMID: 28884921 Free PMC article.

7

Activating Mutations in PAK1, Encoding p21-Activated Kinase 1, Cause a Neurodevelopmental Disorder.

Harms FL, Kloth K, Bley A, Denecke J, Santer R, Lessel D, Hempel M, Kutsche K. Harms FL, et al. Among authors: denecke j. Am J Hum Genet. 2018 Oct 4;103(4):579-591. doi: 10.1016/j.ajhg.2018.09.005. Am J Hum Genet. 2018. PMID: 30290153 Free PMC article.

8

Excessive Seizure Clusters in an Otherwise Well-Controlled Epilepsy as a Possible Hallmark of Untreated Vitamin B6-Responsive Epilepsy due to a Homozygous PLPBP Missense Variant.

Johannsen J, Bierhals T, Deindl P, Hecher L, Hermann K, Hempel M, Kloth K, Denecke J. Johannsen J, et al. Among authors: denecke j. J Pediatr Genet. 2019 Dec;8(4):222-225. doi: 10.1055/s-0039-1685501. Epub 2019 Apr 20. J Pediatr Genet. 2019. PMID: 31687261 Free PMC article.

9

Nine newly identified individuals refine the phenotype associated with MYT1L mutations.

Windheuser IC, Becker J, Cremer K, Hundertmark H, Yates LM, Mangold E, Peters S, Degenhardt F, Ludwig KU, Zink AM, Lessel D, Bierhals T, Herget T, Johannsen J, Denecke J, Wohlleber E, Strom TM, Wieczorek D, Bertoli M, Colombo R, Hempel M, Engels H. Windheuser IC, et al. Among authors: denecke j. Am J Med Genet A. 2020 May;182(5):1021-1031. doi: 10.1002/ajmg.a.61515. Epub 2020 Feb 17. Am J Med Genet A. 2020. PMID: 32065501

10

The Clinical Picture of a Bilateral Perisylvian Syndrome as the Initial Symptom of Mega-Corpus-Callosum Syndrome due to a MAST1-Gene Mutation.

Hecher L, Johannsen J, Bierhals T, Buhk JH, Hempel M, Denecke J. Hecher L, et al. Among authors: denecke j. Neuropediatrics. 2020 Dec;51(6):435-439. doi: 10.1055/s-0040-1710588. Epub 2020 Aug 20. Neuropediatrics. 2020. PMID: 32818970

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