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Publications

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)
Type of Publication: Research article (journal)

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)
Type of Publication: Research article (journal)

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)
Type of Publication: Research article (journal)

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)
Type of Publication: Research article (journal)

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)
Type of Publication: Research article (journal)

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)
Type of Publication: Research article (journal)

Germline mutations in WTX cause a sclerosing skeletal dysplasia but do not predispose to tumorigenesis.

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)
In: Nature Genetics, 41(1)
Type of Publication: Research article (journal)

WNT10A mutations are a frequent cause of a broad spectrum of ectodermal dysplasias with sex-biased manifestation pattern in heterozygotes.

Bohring A, Stamm T, Spaich C, Haase C, Spree K, Hehr U, Hoffmann M, Ledig S, Sel S, Wieacker P, Röpke A (2009)
In: American Journal of Human Genetics, 85(1)
Type of Publication: Research article (journal)

New mutations of EXT1 and EXT2 genes in German patients with Multiple Osteochondromas.

Heinritz W, Hüffmeier U, Strenge S, Miterski B, Zweier C, Leinung S, Bohring A, Mitulla B, Peters U, Froster UG (2009)
In: Annals of Human Genetics, 73(Pt 3)
Type of Publication: Research article (journal)

X-linked recessive ichthyosis and Ichthyosis vulgaris within a family

Seller N, Bohring A, Hausser I, Steinfeld R, Walker T, Metze D, Traupe H, Oji V (2009)
In: Journal der Deutschen Dermatologischen Gesellschaft, 7 Suppl. 4
Type of Publication: Research article (journal)