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Show 1 to 10 of 12 results

Expanding the clinical spectrum of recessive truncating mutations of KLHL7 to a Bohring-Opitz-like phenotype Bruel A., Bigoni S., Kennedy J., Whiteford M., Buxton C., Parmeggiani G., Wherlock M., Woodward G., Greenslade M., Williams M., St-Onge J., Ferlini A., Garani G., Ballardini E., Van Bon B., Acuna-Hidalgo R., Bohring A., Deleuze J., Boland A., Meyer V., Olaso R., Ginglinger E., Study D., Rivière J., Brunner H., Hoischen A., Newbury-Ecob R., Faivre L., Thauvin-Robinet C., Thevenon J. (2017) In: Journal of Medical Genetics, 54(12), 830-835. doi:10.1136/jmedgenet-2017-104748 Research article (journal) \| Peer reviewed \| Published
Autosomal dominant frontometaphyseal dysplasia: Delineation of the clinical phenotype Wade E., Jenkins Z., Daniel P., Morgan T., Addor M., Adés L., Bertola D., Bohring A., Carter E., Cho T., de Geus C., Duba H., Fletcher E., Hadzsiev K., Hennekam R., Kim C., Krakow D., Morava E., Neuhann T., Sillence D., Superti-Furga A., Veenstra-Knol H., Wieczorek D., Wilson L., Markie D., Robertson S. (2017) In: American Journal of Medical Genetics Part A, 173A(7), 1739-1746. doi:10.1002/ajmg.a.38267 Research article (journal) \| Peer reviewed \| Published
A presentation of ichthyosis with severe atopy due to STS and FLG deficiency Seller N, Bohring A, Hausser I, Steinfeld R, Walker T, Aufenvenne K, Metze D, Luger T, Traupe H, Oji V (2010) In: Journal der Deutschen Dermatologischen Gesellschaft, 8(11). Research article (journal) \| Published
Genotype-phenotype correlation in eight new patients with a deletion encompassing 2q31.1. Mitter D, Chiaie BD, Lüdecke HJ, Gillessen-Kaesbach G, Bohring A, Kohlhase J, Caliebe A, Siebert R, Roepke A, Ramos-Arroyo MA, Nieva B, Menten B, Loeys B, Mortier G, Wieczorek D (2010) In: American Journal of Medical Genetics Part A, 152A(5), 1213-1224. Research article (journal) \| Published
The face of Noonan syndrome: Does phenotype predict genotype. Allanson JE, Bohring A, Dörr HG, Dufke A, Gillessen-Kaesbach G, Horn D, König R, Kratz CP, Kutsche K, Pauli S, Raskin S, Rauch A, Turner A, Wieczorek D, Zenker M (2010) In: American Journal of Medical Genetics Part A, 152A(8), 1960-1966. Research article (journal) \| Published
Novel CHD7 mutations contributing to the mutation spectrum in patients with CHARGE syndrome. Wessels K, Bohnhorst B, Luhmer I, Morlot S, Bohring A, Jonasson J, Epplen JT, Gadzicki D, Glaser S, Göhring G, Mälzer M, Hein A, Arslan-Kirchner M, Stuhrmann M, Schmidtke J, Pabst B (2010) In: European Journal of Medical Genetics, 53(5), 280-285.
Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis. In: , -.
WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes. In: , -.
New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas. In: , -.
X-linked recessive ichthyosis and Ichthyosis vulgaris within a family In: .

Research article (journal)

| Published

Jenkins ZA, van Kogelenberg M, Morgan T, Jeffs A, Fukuzawa R, Pearl E, Thaller C, Hing AV, Porteous ME, Garcia-Miñaur S, Bohring A, Lacombe D, Stewart F, Fiskerstrand T, Bindoff L, Berland S, Adès LC, Tchan M, David A, Wilson LC, Hennekam RC, Donnai D, Mansour S, Cormier-Daire V, Robertson SP

(2009)

Nature Genetics

, 41

(1)

100

Research article (journal)

| Published

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A

(2009)

American Journal of Human Genetics

, 85

(1)

105

Research article (journal)

| Published

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG

(2009)

Annals of Human Genetics

, 73

(Pt 3)

283

Research article (journal)

| Published

Seller N, Bohring A, Hausser I, Steinfeld R, Walker T, Metze D, Traupe H, Oji V

(2009)

Journal der Deutschen Dermatologischen Gesellschaft

, 7 Suppl. 4

Research article (journal)

| Published