C. Muti

发表

MAN1B1-CDG: Three new individuals and associated biochemical profiles

E. Schmitt, B. Cogné, B. Isidor, 2021, Molecular genetics and metabolism reports.

Maternal complication of pregnancy in Marfan syndrome.

G. Jondeau, C. Boileau, D. Détaint, 2009, International journal of cardiology.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.

Early-Onset Osteoarthritis, Charcot-Marie-Tooth Like Neuropathy, Autoimmune Features, Multiple Arterial Aneurysms and Dissections: An Unrecognized and Life Threatening Condition

G. Jondeau, P. Dieudé, J. Roume, 2014, PloS one.

Le syndrome de Marfan

G. Jondeau, C. Boileau, B. Chevallier, 2003 .

Identification of the minimal combination of clinical features in probands for efficient mutation detection in the FBN1 gene

G. Jondeau, M. Claustres, G. Collod-Béroud, 2009, European Journal of Human Genetics.

Bone mineral density in Marfan syndrome. A large case-control study.

F. Tubach, G. Jondeau, C. Boileau, 2006, Joint, bone, spine : revue du rhumatisme.

Hypophosphatasia: a genetic-based nosology and new insights in genotype-phenotype correlation

B. Simon‐Bouy, E. Mornet, A. Dufour, 2020, European Journal of Human Genetics.

Diagnostic yield of chromosomal microarray analysis in fetuses with isolated increased nuchal translucency: a French multicenter study

L. Salomon, C. Bénéteau, M. Vekemans, 2018, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Identification of 23 TGFBR 2 and 6 TGFBR 1 gene mutations and genotype-phenotype investigations in 457 patients with Marfan syndrome type I and II , Loeys-Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2019 .

Loss of heterozygosity on 10q and mutational status of PTEN and BMPR1A in colorectal primary tumours and metastases

J. Thiery, C. Boulard, F. Radvanyi, 2004, British Journal of Cancer.

Symbiont diversity is not involved in depth acclimation in the Mediterranean sea whip Eunicella singularis

D. Allemand, P. Francour, C. Cerrano, 2011 .

Genetic analysis of adults heterozygous for ALPL mutations

C. Roux, M. Laurent, P. Guggenbuhl, 2018, Journal of Bone and Mineral Metabolism.

Molecular study of three cases of odontohypophosphatasia resulting from heterozygosity for mutations in the tissue non-specific alkaline phosphatase gene

K. Keppler-Noreuil, J. Bergoffen, R. Wallerstein, 2003, Journal of medical genetics.

Possible human chimera detected prenatally after in vitro fertilization: a case report.

A. Mokdad, F. Vialard, B. Simon‐Bouy, 2002, Prenatal diagnosis.

Identification in Daily Practice of Patients With Lynch Syndrome (Hereditary Nonpolyposis Colorectal Cancer): Revised Bethesda Guidelines-Based Approach Versus Molecular Screening

F. Radvanyi, P. Laurent-Puig, B. Nordlinger, 2008, The American Journal of Gastroenterology.

Effect of mutation type and location on clinical outcome in 1,013 probands with Marfan syndrome or related phenotypes and FBN1 mutations: an international study.

M Claustres, C Binquet, E. Arbustini, 2007, American journal of human genetics.

Molecular diagnosis of hypophosphatasia and differential diagnosis by targeted Next Generation Sequencing.

J. Millán, J. Roume, J. Salles, 2015, Molecular genetics and metabolism.

Gorgonian population recovery after a mass mortality event

Carlo Cerrano, G. Zega, G. Bavestrello, 2005 .

TGFB2 loss of function mutations cause familial thoracic aortic aneurysms and acute aortic dissections associated with mild systemic features of the Marfan syndrome

Jay Shendure, Mathilde Varret, Catherine Boileau, 2012, Nature Genetics.

Unbalanced karyotype due to adjacent 1 segregation of t(11;22)(q23.3;q13.2).

G. Tachdjian, E. Tamboise, J. Gaudelus, 1992, Annales de Genetique.

Clinical findings and cytogenetic analysis of small supernumerary ring chromosomes 7: report of two new cases.

S. Chantot-Bastaraud, J. Siffroi, E. Pipiras, 2004, Annales de genetique.

Evaluation of predictive models in daily practice for the identification of patients with Lynch syndrome

F. Radvanyi, P. Laurent-Puig, B. Nordlinger, 2012, International journal of cancer.

Utility of genetic testing for prenatal presentations of hypophosphatasia.

E. Colin, A. Zankl, J. Salles, 2021, Molecular genetics and metabolism.

Antenatal ultrasound features of isolated recurrent copy number variation in 7q11.23 (Williams syndrome and 7q11.23 duplication syndrome)

S. Julia, C. Rooryck, F. Vialard, 2023, Prenatal diagnosis.

[Aortic aneurysms excluding Marfan's syndrome].

G. Jondeau, C. Boileau, C. Muti, 2003, Archives des maladies du coeur et des vaisseaux.

[Recommendations for the medical management of aortic complications of Marfan's syndrome].

G. Jondeau, D. Lacombe, L. Faivre, 2006, Archives des maladies du coeur et des vaisseaux.

Marfan syndrome and fibrillin disorders.

F. Tubach, G. Jondeau, C. Boileau, 2000, Joint, bone, spine : revue du rhumatisme.

Identification of 23 TGFBR2 and 6 TGFBR1 gene mutations and genotype‐phenotype investigations in 457 patients with Marfan syndrome type I and II, Loeys‐Dietz syndrome and related disorders

C. Junien, G. Jondeau, M. Claustres, 2008, Human mutation.