Schulz S - Search Results

1

Defining and expanding the phenotype of QARS-associated developmental epileptic encephalopathy.

Johannesen KM, Mitter D, Janowski R, Roth C, Toulouse J, Poulat AL, Ville DM, Chatron N, Brilstra E, Geleijns K, Born AP, McLean S, Nugent K, Baynam G, Poulton C, Dreyer L, Gration D, Schulz S, Dieckmann A, Helbig KL, Merkenschlager A, Jamra R, Finck A, Gardella E, Hjalgrim H, Mirzaa G, Brancati F, Bierhals T, Denecke J, Hempel M, Lemke JR, Rubboli G, Muschke P, Guerrini R, Vetro A, Niessing D, Lesca G, Møller RS. Johannesen KM, et al. Among authors: schulz s. Neurol Genet. 2019 Dec 10;5(6):e373. doi: 10.1212/NXG.0000000000000373. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 32042906 Free PMC article.

2

Greig cephalopolysyndactyly (GCPS) contiguous gene syndrome in a boy with a 14 Mb deletion in region 7p13-14 caused by a paternal balanced insertion (5; 7).

Schulz S, Volleth M, Muschke P, Wieland I, Wieacker P. Schulz S, et al. Appl Clin Genet. 2008 Nov 18;1:19-22. doi: 10.2147/tacg.s4401. Print 2008. Appl Clin Genet. 2008. PMID: 23776344 Free PMC article.

3

Increased frequency of cystic fibrosis transmembrane conductance regulator gene mutations in infertile males.

Schulz S, Jakubiczka S, Kropf S, Nickel I, Muschke P, Kleinstein J. Schulz S, et al. Fertil Steril. 2006 Jan;85(1):135-8. doi: 10.1016/j.fertnstert.2005.07.1282. Fertil Steril. 2006. PMID: 16412743 Free article.

4

Congenital cataract, ataxia, external ophthalmoplegia and dysphagia in two siblings. A Marinesco-Sjögren-like syndrome.

Schulz S, Vielhaber S, Muschke P, Mohnike K, Gooding R, Wieacker P. Schulz S, et al. Neuropediatrics. 2007 Apr;38(2):88-90. doi: 10.1055/s-2007-984448. Neuropediatrics. 2007. PMID: 17712737

5

Prenatal diagnosis of Roberts syndrome and detection of an ESCO2 frameshift mutation in a Pakistani family.

Schulz S, Gerloff C, Ledig S, Langer D, Volleth M, Shirneshan K, Wieacker P. Schulz S, et al. Prenat Diagn. 2008 Jan;28(1):42-5. doi: 10.1002/pd.1904. Prenat Diagn. 2008. PMID: 18186147

6

Pseudotrisomy 13: clinical findings and genetic implications.

Schulz S, Gerloff C, Kalinski T, Mawrin C, Kanakis D, Haas D, Hahn H, Wieacker P. Schulz S, et al. Fetal Diagn Ther. 2005 Nov-Dec;20(6):501-3. doi: 10.1159/000088038. Fetal Diagn Ther. 2005. PMID: 16260883

7

Frequent expression of immunoreactive somatostatin receptors in cervical and endometrial cancer.

Schulz S, Schmitt J, Weise W. Schulz S, et al. Gynecol Oncol. 2003 Jun;89(3):385-90. doi: 10.1016/s0090-8258(03)00078-7. Gynecol Oncol. 2003. PMID: 12798699

8

Gene symbol: MPZ. Disease: Charcot-Marie-Tooth disease. Accession #Hm0549.

Jakubiczka S, Schulz S, Wieacker P. Jakubiczka S, et al. Among authors: schulz s. Hum Genet. 2006 Feb;118(6):781. Hum Genet. 2006. PMID: 17297705 No abstract available.

9

Mass Balance Recovery, Absorption, Metabolism, and Excretion of Elinzanetant in Healthy Human Volunteers and in vitro Biotransformation.

Schulz SI, Schultze-Mosgau MH, Engelen A, Singh N, Pawsey S, Francke K, Lock R, Rottmann A. Schulz SI, et al. Eur J Drug Metab Pharmacokinet. 2024 Dec 24. doi: 10.1007/s13318-024-00930-3. Online ahead of print. Eur J Drug Metab Pharmacokinet. 2024. PMID: 39719488

10

Angiotensin receptor blockers modulate the lupus CD4+ T cell epigenome characterized by TNF family-linked signaling.

Hart AP, Kotzin JJ, Schulz SW, Dunham JS, Keenan AL, Baker JF, Wells AD, Beiting DP, Laufer TM. Hart AP, et al. Among authors: schulz sw. JCI Insight. 2024 Dec 17:e176811. doi: 10.1172/jci.insight.176811. Online ahead of print. JCI Insight. 2024. PMID: 39688922 Free article.

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