Genotypic and Phenotypic Spectrum in Tricho-Rhino-Phalangeal Syndrome Types I and III von Lüdecke, H.-J., Schaper, J., Meinecke, P., Momeni, P., Groß, S., von Holtum, D., Hirche, H., Abramowicz, M.J., Albrecht, B., Apacik, C., Christen, H.-J., Claussen, U., Devriendt, K., Fastnacht, E., Forderer, A., Friedrich, U., Goodship, T.H.J., Greiwe, M., Hamm, H., Hennekam, R.C.M., Hinkel, G.K., Hoeltzenbein, M., Kayserili, H., Majewski, F., Mathieu, M., McLeod, R., Midro, A.T., Moog, U., Nagai, T., Niikawa, N., Ørstavik, K.H., Plöchl, E., Seitz, C., Schmidtke, J., Tranebjærg, L., Tsukahara, M., Wittwer, B., Zabel, B., Gillessen-Kaesbach, G., Horsthemke, B.

Volltext

Familial congenital hypothyroidism due to inactivating mutation of the thyrotropin receptor causing profound hypoplasia of the thyroid gland von Abramowicz, M J, Duprez, L, Parma, J, Vassart, G, Heinrichs, C

Volltext

Borate transporter SLC4A11 mutations cause both Harboyan syndrome and non-syndromic corneal endothelial dystrophy von Desir, Julie, Moya, Graciela, Reish, Orit, Van Regemorter, Nicole, Deconinck, Hilde, David, Karen L, Meire, Françoise M, Abramowicz, Marc J

Volltext

Primary Autosomal Recessive Microcephaly: Homozygosity Mapping of MCPH4 to Chromosome 15 von Jamieson, C. Ruth, Govaerts, Cédric, Abramowicz, Marc J.

Volltext

Primary pulmonary hypertension after amfepramone (diethylpropion) with BMPR2 mutation von Abramowicz, M.J, Van Haecke, P, Demedts, M, Delcroix, M

Volltext

Identification of a mutation in the coding sequence of the human thyroid peroxidase gene causing congenital goiter von ABRAMOWICZ, M. J, TARGOVNIK, H. M, VARELA, V, COCHAUX, P, KRAWIEC, L, PISAREV, M. A, PROPATO, F. V. E, JUVENAL, G, CHESTER, H. A, VASSART, G

Volltext

Corneal dystrophy and perceptive deafness (Harboyan syndrome): CDPD1 maps to 20p13 von Abramowicz, M J, Albuquerque-Silva, J, Zanen, A

Volltext

Fetal bowel hyperechogenicity may indicate mild atypical cystic fibrosis: a case associated with a complex CFTR allele von ABRAMOWICZ, MARC J, DESSARS, BARBARA, SEVENS, CLAUDE, GOOSSENS, MICHEL, BOULANDET, EMMANUELLE GIRODON

Volltext

Primary Autosomal Recessive Microcephaly: MCPH5 Maps to 1q25-q32 von Jamieson, C. Ruth, Fryns, Jean-Pierre, Jacobs, Jos, Matthijs, Gert, Abramowicz, Marc J.

Volltext

Probing the Cause of Thyroid Dysgenesis von Abramowicz, M J, Vassart, G, Refetoff, S

Volltext

Frequency of RET mutations in long- and short-segment Hirschsprung disease von Seri, Marco, Yin, Luo, Barone, Virginia, Bolino, Alessandra, Celli, Iacopo, Bocciardi, Renata, Pasini, Barbara, Ceccherini, Isabella, Lerone, Margherita, Kristoffersson, Ulf, Larsson, Lars T., Casasa, Josep Maria, Cass, Daniel T., Abramowicz, Marc Joel, Vanderwinden, Jean-Marie, Kravčenkiene, Ingrida, Baric, Ivo, Silengo, Margherita, Martucciello, Giuseppe, Romeo, Giovanni

Volltext

Pernicious anaemia and hypoparathyroidism in a patient with Kearns‐Sayre syndrome with mitochondrial DNA duplication von Abramowicz, M. J., Cochaux, P., Cohen, L. H. F., Vamos, E.

Volltext

Chimeraplasty validation von Albuquerque-Silva, João, Vassart, Gilbert, Lavinha, João, Abramowicz, Marc J

Volltext

Gray matter heterotopia and acute necrotizing encephalopathy in trichothiodystrophy von Wetzburger, Catherine L., Van Regemorter, Nicole, Szliwowski, Henri B., Abramowicz, Marc J., Van Bogaert, Patrick

Volltext

A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years von Demeester, Rémy, Parma, Jasmine, Cochaux, Pascale, Vassart, Gilbert, Abramowicz, Marc J.

Volltext

Mutations of the TGF-β type II receptor BMPR2 in pulmonary arterial hypertension von Machado, Rajiv D., Aldred, Micheala A., James, Victoria, Harrison, Rachel E., Patel, Bhakti, Schwalbe, Edward C., Gruenig, Ekkehard, Janssen, Bart, Koehler, Rolf, Seeger, Werner, Eickelberg, Oliver, Olschewski, Horst, Gregory Elliott, C., Glissmeyer, Eric, Carlquist, John, Kim, Miryoung, Torbicki, Adam, Fijalkowska, Anna, Szewczyk, Grzegorz, Parma, Jasmine, Abramowicz, Marc J., Galie, Nazzareno, Morisaki, Hiroko, Kyotani, Shingo, Nakanishi, Norifumi, Morisaki, Takayuki, Humbert, Marc, Simonneau, Gerald, Sitbon, Olivier, Soubrier, Florent, Coulet, Florence, Morrell, Nicholas W., Trembath, Richard C.

Volltext

Functional study of the human thyroid peroxidase gene promoter von ABRAMOWICZ, Mare J., VASSART, Gilbert, CHRISTOPHE, Daniel

Volltext

Thyroid peroxidase gene promoter confers TSH responsiveness to heterologous reporter genes in transfection experiments von Abramowicz, Marc J., Vassart, Gilbert, Christophe, Daniel

Volltext

Neonatal Diabetes Mellitus von Abramowicz, M J, Dorchy, H, Vamos, E

Volltext

Protein-Truncating Mutations in ASPM Cause Variable Reduction in Brain Size von Bond, Jacquelyn, Scott, Sheila, Hampshire, Daniel J., Springell, Kelly, Corry, Peter, Abramowicz, Marc J., Mochida, Ganesh H., Hennekam, Raoul C.M., Maher, Eamonn R., Fryns, Jean-Pierre, Alswaid, Abdulrahman, Jafri, Hussain, Rashid, Yasmin, Mubaidin, Ammar, Walsh, Christopher A., Roberts, Emma, Woods, C. Geoffrey

Volltext