Abramowicz MJ - Search Results

1

Mutations of the TGF-beta type II receptor BMPR2 in pulmonary arterial hypertension.

Machado RD, Aldred MA, James V, Harrison RE, Patel B, Schwalbe EC, Gruenig E, Janssen B, Koehler R, Seeger W, Eickelberg O, Olschewski H, Elliott CG, Glissmeyer E, Carlquist J, Kim M, Torbicki A, Fijalkowska A, Szewczyk G, Parma J, Abramowicz MJ, Galie N, Morisaki H, Kyotani S, Nakanishi N, Morisaki T, Humbert M, Simonneau G, Sitbon O, Soubrier F, Coulet F, Morrell NW, Trembath RC. Machado RD, et al. Among authors: abramowicz mj. Hum Mutat. 2006 Feb;27(2):121-32. doi: 10.1002/humu.20285. Hum Mutat. 2006. PMID: 16429395

2

Slight instability of a FMR-1 allele over three generations in a family from the general population.

Abramowicz MJ, Parma J, Cochaux P. Abramowicz MJ, et al. Am J Med Genet. 1996 Aug 9;64(2):268-9. doi: 10.1002/(SICI)1096-8628(19960809)64:2<268::AID-AJMG6>3.0.CO;2-Q. Am J Med Genet. 1996. PMID: 8844062

3

Mutation analysis of the MEN1 gene in Belgian patients with multiple endocrine neoplasia type 1 and related diseases.

Poncin J, Abs R, Velkeniers B, Bonduelle M, Abramowicz M, Legros JJ, Verloes A, Meurisse M, Van Gaal L, Verellen C, Koulischer L, Beckers A. Poncin J, et al. Hum Mutat. 1999;13(1):54-60. doi: 10.1002/(SICI)1098-1004(1999)13:1<54::AID-HUMU6>3.0.CO;2-K. Hum Mutat. 1999. PMID: 9888389

4

A rare variant, I852M, of the RET proto-oncogene in a patient with medullary thyroid carcinoma at age 20 years.

Demeester R, Parma J, Cochaux P, Vassart G, Abramowicz MJ. Demeester R, et al. Among authors: abramowicz mj. Hum Mutat. 2001 Apr;17(4):354. doi: 10.1002/humu.42. Hum Mutat. 2001. PMID: 11295841 No abstract available.

5

Serotonin 5-HT(2B) receptor loss of function mutation in a patient with fenfluramine-associated primary pulmonary hypertension.

Blanpain C, Le Poul E, Parma J, Knoop C, Detheux M, Parmentier M, Vassart G, Abramowicz MJ. Blanpain C, et al. Among authors: abramowicz mj. Cardiovasc Res. 2003 Dec 1;60(3):518-28. doi: 10.1016/j.cardiores.2003.09.015. Cardiovasc Res. 2003. PMID: 14659797

6

A novel mutation of tumor necrosis factor receptor alpha type 1 associated with TRAPS and amyloidosis.

Broeders EN, Abramowicz D, Abramowicz MJ, Parma J. Broeders EN, et al. Among authors: abramowicz d, abramowicz mj. Am J Med Genet A. 2004 Jul 30;128A(3):331. doi: 10.1002/ajmg.a.30058. Am J Med Genet A. 2004. PMID: 15216558 No abstract available.

7

Mutational spectrum of the oral-facial-digital type I syndrome: a study on a large collection of patients.

Prattichizzo C, Macca M, Novelli V, Giorgio G, Barra A, Franco B; Oral-Facial-Digital Type I (OFDI) Collaborative Group. Prattichizzo C, et al. Hum Mutat. 2008 Oct;29(10):1237-46. doi: 10.1002/humu.20792. Hum Mutat. 2008. PMID: 18546297

8

Autosomal recessive primary microcephaly due to ASPM mutations: An update.

Létard P, Drunat S, Vial Y, Duerinckx S, Ernault A, Amram D, Arpin S, Bertoli M, Busa T, Ceulemans B, Desir J, Doco-Fenzy M, Elalaoui SC, Devriendt K, Faivre L, Francannet C, Geneviève D, Gérard M, Gitiaux C, Julia S, Lebon S, Lubala T, Mathieu-Dramard M, Maurey H, Metreau J, Nasserereddine S, Nizon M, Pierquin G, Pouvreau N, Rivier-Ringenbach C, Rossi M, Schaefer E, Sefiani A, Sigaudy S, Sznajer Y, Tunca Y, Guilmin Crepon S, Alberti C, Elmaleh-Bergès M, Benzacken B, Wollnick B, Woods CG, Rauch A, Abramowicz M, El Ghouzzi V, Gressens P, Verloes A, Passemard S. Létard P, et al. Hum Mutat. 2018 Mar;39(3):319-332. doi: 10.1002/humu.23381. Epub 2018 Jan 16. Hum Mutat. 2018. PMID: 29243349 Free article.

9

Isodisomy of chromosome 6 in a newborn with methylmalonic acidemia and agenesis of pancreatic beta cells causing diabetes mellitus.

Abramowicz MJ, Andrien M, Dupont E, Dorchy H, Parma J, Duprez L, Ledley FD, Courtens W, Vamos E. Abramowicz MJ, et al. J Clin Invest. 1994 Jul;94(1):418-21. doi: 10.1172/JCI117339. J Clin Invest. 1994. PMID: 7913714 Free PMC article.

10

Frequency of RET mutations in long- and short-segment Hirschsprung disease.

Seri M, Yin L, Barone V, Bolino A, Celli I, Bocciardi R, Pasini B, Ceccherini I, Lerone M, Kristoffersson U, Larsson LT, Casasa JM, Cass DT, Abramowicz MJ, Vanderwinden JM, Kravcenkiene I, Baric I, Silengo M, Martucciello G, Romeo G. Seri M, et al. Among authors: abramowicz mj. Hum Mutat. 1997;9(3):243-9. doi: 10.1002/(SICI)1098-1004(1997)9:3<243::AID-HUMU5>3.0.CO;2-8. Hum Mutat. 1997. PMID: 9090527

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