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Page 1
Variants in PRKAR1B cause a neurodevelopmental disorder with autism spectrum disorder, apraxia, and insensitivity to pain.
Marbach F, Stoyanov G, Erger F, Stratakis CA, Settas N, London E, Rosenfeld JA, Torti E, Haldeman-Englert C, Sklirou E, Kessler E, Ceulemans S, Nelson SF, Martinez-Agosto JA, Palmer CGS, Signer RH; Undiagnosed Diseases Network; Andrews MV, Grange DK, Willaert R, Person R, Telegrafi A, Sievers A, Laugsch M, Theiß S, Cheng Y, Lichtarge O, Katsonis P, Stocco A, Schaaf CP. Marbach F, et al. Among authors: erger f. Genet Med. 2021 Aug;23(8):1465-1473. doi: 10.1038/s41436-021-01152-7. Epub 2021 Apr 8. Genet Med. 2021. PMID: 33833410 Free PMC article.
Challenges and Considerations in Managing Thrombotic Microangiopathy and Disseminated Intravascular Coagulation in Postpartum Hemorrhage.
Kaufeld JK, Schönermarck U, Kühne L, Bräsen JH, von Kaisenberg C, Beck BB, Erger F, Bergmann C, von Bergwelt-Baildon A, Brinkkötter PT, Menne J, Völker LA. Kaufeld JK, et al. Among authors: erger f. Kidney Int Rep. 2024 May 24;9(7):2307-2308. doi: 10.1016/j.ekir.2024.05.021. eCollection 2024 Jul. Kidney Int Rep. 2024. PMID: 39081748 Free PMC article. No abstract available.
Features of Postpartum Hemorrhage-Associated Thrombotic Microangiopathy and Role of Short-Term Complement Inhibition.
Kaufeld JK, Kühne L, Schönermarck U, Bräsen JH, von Kaisenberg C, Beck BB, Erger F, Bergmann C, von Bergwelt-Baildon ANKE, Brinkkötter PT, Völker LA, Menne J. Kaufeld JK, et al. Among authors: erger f. Kidney Int Rep. 2024 Jan 23;9(4):919-928. doi: 10.1016/j.ekir.2024.01.035. eCollection 2024 Apr. Kidney Int Rep. 2024. PMID: 38765599 Free PMC article.
Mutations in PIGB Cause an Inherited GPI Biosynthesis Defect with an Axonal Neuropathy and Metabolic Abnormality in Severe Cases.
Murakami Y, Nguyen TTM, Baratang N, Raju PK, Knaus A, Ellard S, Jones G, Lace B, Rousseau J, Ajeawung NF, Kamei A, Minase G, Akasaka M, Araya N, Koshimizu E, van den Ende J, Erger F, Altmüller J, Krumina Z, Strautmanis J, Inashkina I, Stavusis J, El-Gharbawy A, Sebastian J, Puri RD, Kulshrestha S, Verma IC, Maier EM, Haack TB, Israni A, Baptista J, Gunning A, Rosenfeld JA, Liu P, Joosten M, Rocha ME, Hashem MO, Aldhalaan HM, Alkuraya FS, Miyatake S, Matsumoto N, Krawitz PM, Rossignol E, Kinoshita T, Campeau PM. Murakami Y, et al. Among authors: erger f. Am J Hum Genet. 2019 Aug 1;105(2):384-394. doi: 10.1016/j.ajhg.2019.05.019. Epub 2019 Jun 27. Am J Hum Genet. 2019. PMID: 31256876 Free PMC article.
The adult phenotype of Schaaf-Yang syndrome.
Marbach F, Elgizouli M, Rech M, Beygo J, Erger F, Velmans C, Stumpel CTRM, Stegmann APA, Beck-Wödl S, Gillessen-Kaesbach G, Horsthemke B, Schaaf CP, Kuechler A. Marbach F, et al. Among authors: erger f. Orphanet J Rare Dis. 2020 Oct 19;15(1):294. doi: 10.1186/s13023-020-01557-8. Orphanet J Rare Dis. 2020. PMID: 33076953 Free PMC article.
O'Donnell-Luria-Rodan syndrome: description of a second multinational cohort and refinement of the phenotypic spectrum.
Velmans C, O'Donnell-Luria AH, Argilli E, Tran Mau-Them F, Vitobello A, Chan MC, Fung JL, Rech M, Abicht A, Aubert Mucca M, Carmichael J, Chassaing N, Clark R, Coubes C, Denommé-Pichon AS, de Dios JK, England E, Funalot B, Gerard M, Joseph M, Kennedy C, Kumps C, Willems M, van de Laar IMBH, Aarts-Tesselaar C, van Slegtenhorst M, Lehalle D, Leppig K, Lessmeier L, Pais LS, Paterson H, Ramanathan S, Rodan LH, Superti-Furga A, Chung BHY, Sherr E, Netzer C, Schaaf CP, Erger F. Velmans C, et al. Among authors: erger f. J Med Genet. 2022 Jul;59(7):697-705. doi: 10.1136/jmedgenet-2020-107470. Epub 2021 Jul 28. J Med Genet. 2022. PMID: 34321323 Free PMC article.
36 results