J. Lambert

发表

Pseudoexon activation in the PKHD1 gene: a French founder intronic mutation IVS46+653A>G causing severe autosomal recessive polycystic kidney disease

V. Tardy, Y. Morel, L. Michel-Calemard, 2009, Clinical genetics.

The spectrum of parathyroid gland dysfunction associated with the microdeletion 22q11.

F. Pedeutour, J. Lambert, S. Hiéronimus, 2006, European journal of endocrinology.

Harlequin fetus: three‐dimensional sonographic findings and new diagnostic approach

B. Benoit, A. Bongain, J. Lambert, 2002, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.

Tetrasomy 18p de novo: Parental Origin and Different Mechanisms of Formation

N. Tommerup, E. Blennow, D. Avramopoulos, 1996, European journal of human genetics : EJHG.

Genetics of laminin α2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis

C. Richelme, M. Nissinen, A. Barois, 1997, Neuromuscular Disorders.

HLA in families with Down's syndrome children.

J. Lambert, S. Benzaken, N. Ayraud, 2008, Tissue antigens.

Arthrogryposis-like signs in trisomy 18

J. Lambert, N. Ayraud, M. Donzeau, 2004, Human Genetics.

Cytogenetic study of 88 cases of refractory anemia.

J. Lambert, N. Ayraud, S. Raynaud, 1983, Cancer genetics and cytogenetics.

A novel homozygous MMP2 mutation in a family with Winchester syndrome

A Coussement, N. Philip, S. Bannwarth, 2006, Clinical genetics.

[Comparative cytogenetic study of 7 types of mammary cancer].

J. Lambert, N. Ayraud, B. Basteris, 1977, Annales de Genetique.

A locus for autosomal dominant colobomatous microphthalmia maps to chromosome 15q12-q15.

C. Philippe, J. Zech, J. Lambert, 2000, American journal of human genetics.

Partial Xp11.23–p11.4 duplication with random X inactivation: Clinical report and molecular cytogenetic characterization

M. Cossée, F. Giuliano, J. Lambert, 2008, American journal of medical genetics. Part A.

Delineation of a region responsible for panhypopituitarism in 20p11.2

F. Giuliano, J. Lambert, H. Karmous-Benailly, 2013, American journal of medical genetics. Part A.

Triploidy with cyclopia and identical HLA alleles in the parents.

G. Charpentier, J. Lambert, N. Ayraud, 1984, Journal of medical genetics.

[4p monosomy with paternal t(13;14) (p11;p11) translocation].

J. Lambert, N. Ayraud, J. Mattéi, 1979, Pediatrie.

Unbalanced inherited complex chromosome rearrangement involving chromosome 8, 10, 11 and 16 in a patient with congenital malformations and delayed development.

F. Giuliano, J. Lambert, H. Karmous-Benailly, 2006, European journal of medical genetics.

Winchester syndrome: the progression of radiological findings over a 23-year period

A. Coussement, J. Lambert, C. Rouzier, 2011, Skeletal Radiology.

18q- Syndrome resulting from a tdic(14p;18q)

J. Lambert, N. Ayraud, M. Ferrari, 1979, Human Genetics.

The role of muscle biopsy in analysis of the dystrophin gene in Duchenne muscular dystrophy: experience of a national referral centre

F. Rivier, B. Echenne, M. Cossée, 2004, Neuromuscular Disorders.

[Interstitial deletion of the long arm of chromosome 7 in a female child with leprechaunism].

J. Lambert, N. Ayraud, J. Rovinski, 1976, Annales de genetique.

tetrasomy 22 pter leads to q 11 . Cat eye syndrome owing to

G. Charpentier, J. Lambert, N. Ayraud, 2022 .

Renal cell carcinoma and a constitutional t(11;22)(q23;q11.2): case report and review of the potential link between the constitutional t(11;22) and cancer.

J. Amiel, F. Pedeutour, J. Lambert, 2012, Cancer genetics.

[Antenatal diagnosis of a case of spondylo-costal dysplasia].

J. Lambert, J. Diquelou, 1991, Journal de gynecologie, obstetrique et biologie de la reproduction.

A neonatal polyvisceral failure linked to a de novo homoplasmic mutation in the mitochondrially encoded cytochrome b gene.

V. Procaccio, P. Potluri, S. Bannwarth, 2009, Mitochondrion.

Chiari Type I malformation and syringomyelia in unrelated patients with blepharophimosis. Report of two cases.

P. Paquis, J. Lambert, M. Lonjon, 1998, Journal of Neurosurgery.

Rapid identification of mitochondrial DNA (mtDNA) mutations in neuromuscular disorders by using surveyor strategy.

D. Wallace, J. Gargus, P. Calvas, 2008, Mitochondrion.

Prenatal diagnosis of severe fetal toxoplasmosis as a result of toxoplasmic reactivation in an HIV‐1 seropositive woman

A. Bongain, J. Lambert, P. Marty, 1994, Prenatal diagnosis.

X-linked alpha-thalassemia/mental retardation syndrome. Linkage analysis in a new family further supports localization in proximal Xq.

A. Toutain, C. Houdayer, G. Lefort, 1993, Annales de genetique.

Evolution of a patient with Bohring–Opitz syndrome

C. Richelme, F. Giuliano, T. Kaname, 2009, American journal of medical genetics. Part A.

Two new human tumor cell lines derived from squamous cell carcinomas of the tongue: establishment, characterization and response to cytotoxic treatment.

F. Demard, A. Courdi, F. Ettore, 1988, European journal of cancer & clinical oncology.

Hydrometrocolpos and polydactyly: a common neonatal presentation of Bardet-Biedl and McKusick-Kaufman syndromes

A. Verloes, D. Lacombe, A. David, 1999, Journal of medical genetics.