A. Aboura

发表

Prenatal BACs‐on‐Beads™: a new technology for rapid detection of aneuploidies and microdeletions in prenatal diagnosis

F. Vialard, E. Rouleau, G. Simoni, 2011, Prenatal diagnosis.

Application of a new molecular technique for the genetic evaluation of products of conception

F. Vialard, G. Simoni, A. Aboura, 2013, Prenatal diagnosis.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

P. Elliott, M. Jarvelin, C. Gieger, 2011, Nature.

Early-onset obesity and paternal 2pter deletion encompassing the ACP1, TMEM18, and MYT1L genes

C. Rooryck, G. Lefort, P. Jonveaux, 2013, European Journal of Human Genetics.

Fetal phenotype of Prader–Willi syndrome due to maternal disomy for chromosome 15

R. Frydman, L. Cuisset, G. Tachdjian, 2003, Prenatal diagnosis.

Prenatal diagnosis of a 7p15-p21 deletion encompassing the TWIST1 gene involved in Saethre-Chotzen syndrome.

A. Aboura, C. Dupont, F. Guimiot, 2012, European journal of medical genetics.

A locus for sacral/anorectal malformations maps to 6q25.3 in a 0.3 Mb interval region

M. Elmaleh, A. Verloes, C. Baumann, 2006, European Journal of Human Genetics.

Chromosome 22q13.3 deletion syndrome with a de novo interstitial 22q13.3 cryptic deletion disrupting SHANK3.

A. Toutain, A. Verloes, J. Elion, 2009, European journal of medical genetics.

Giant diencephalic harmartoma and related anomalies: A newly recognized entity distinct from the Pallister–Hall syndrome

C. Garel, J. Oury, V. Drouin‐Garraud, 2009, American journal of medical genetics. Part A.

Paternal isodisomy for chromosome 2 as the cause of Crigler–Najjar type I syndrome

G. Tachdjian, F. Petit, A. Aboura, 2005, European Journal of Human Genetics.

Pre‐ and postnatal phenotype of 6p25 deletions involving the FOXC1 gene

P. Gressens, A. Verloes, J. Elion, 2012, American journal of medical genetics. Part A.

Submicroscopic Insertion of RARα Gene into Chromosome 15 in Two Cases of Acute Promyelocytic Leukemia

C. Chomienne, D. Bouscary, A. Aboura, 2000 .

Isodicentric/pseudoisodicentric chromosome 21 amplification in four cases of acute myelocytic leukemia or myelodysplasia.

N. Casadevall, G. Tachdjian, D. Bouscary, 2002, Cancer genetics and cytogenetics.

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

A. Verloes, C. Baumann, I. Denjoy, 2013, Clinical genetics.

Prenatal diagnosis of 24 cases of microduplication 22q11.2: an investigation of phenotype‐genotype correlations

K. Choy, J. Toutain, C. Bénéteau, 2015, Prenatal diagnosis.

Further delineation of the 17p13.3 microdeletion involving YWHAE but distal to PAFAH1B1: four additional patients.

A. Verloes, J. Andrieux, A. Aboura, 2010, European journal of medical genetics.

Terminal 14q32.33 deletion: Genotype–phenotype correlation

G. Tachdjian, A. Aboura, S. Brisset, 2006, American journal of medical genetics. Part A.

Ectodermal dysplasia‐like syndrome with mental retardation due to contiguous gene deletion: Further clinical and molecular delineation of del(2q32) syndrome

A. Verloes, A. Aboura, B. Benzacken, 2010, American journal of medical genetics. Part A.

Inversion duplication deletions involving the long arm of chromosome 13: Phenotypic description of additional three fetuses and genotype–phenotype correlation

A. Verloes, L. Pasquier, P. Marcorelles, 2014, American journal of medical genetics. Part A.

COL2A1 gene disruption by a balanced translocation t(12;15)(q13;q22.2) in familial stickler syndrome

C. Baumann, A. Aboura, B. Benzacken, 2013, American journal of medical genetics. Part A.

Could sperm aneuploidy rate determination be used as a predictive test before intracytoplasmic sperm injection?

N. Frydman, R. Fanchin, R. Frydman, 2005, Journal of andrology.

Cytogenetic, molecular and testicular tissue studies in an infertile 45,X male carrying an unbalanced (Y;22) translocation: case report.

R. Frydman, G. Tachdjian, A. Aboura, 2005, Human reproduction.

Early and Rapid Prenatal Diagnosis of Monosomy 2q36.1 in Trophoblast Cells

G. Tachdjian, A. Aboura, S. Brisset, 2006, Fetal Diagnosis and Therapy.

Cryptic Xp duplication including the SHOX gene in a woman with 46,X, del(X)(q21.31) and premature ovarian failure.

N. Bourcigaux, G. Tachdjian, S. Christin‐Maitre, 2007, Human reproduction.

Molecular cytogenetic studies of Xq critical regions in premature ovarian failure patients.

R. Frydman, N. Bourcigaux, G. Tachdjian, 2006, Human reproduction.

A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic Twin

V. Biran, O. Baud, A. Verloes, 2011, Pediatrics.

Twin A Long-term Competent Chimeric Immune System in a Dizygotic Dichorionic

C. Baumann, A. Aboura, S. Drunat, 2011 .

Cytogenetic analysis of trophoblasts by comparative genomic hybridization in embryo‐fetal development anomalies

M. Dauge, G. Tachdjian, A. Coulomb, 2001, Prenatal diagnosis.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.

Deletion in the ABL gene resulting from a meiotic recombination of a maternal (3;22;9)(q22;q12;q34.1) translocation

G. Tachdjian, A. Aboura, S. Brisset, 2003, Journal of medical genetics.

Molecular characterization of a de novo 6q24.2q25.3 duplication interrupting UTRN in a patient with arthrogryposis

M. Pilorge, C. Betancur, A. Verloes, 2010, American journal of medical genetics. Part A.

Duplication of the 15q11-q13 region: clinical and genetic study of 30 new cases.

S. Auvin, A. Verloes, C. Baumann, 2014, European journal of medical genetics.

De novo interstitial direct duplication of Xq21.1q25 associated with skewed X‐inactivation pattern

O. Boespflug-Tanguy, G. Tachdjian, A. Aboura, 2004, American journal of medical genetics. Part A.

Complex nature of apparently balanced chromosomal rearrangements in patients with autism spectrum disorder

Christopher Gillberg, Richard Delorme, Alain Verloes, 2015, Molecular Autism.

2q23.1 microdeletion identified by array comparative genomic hybridisation: an emerging phenotype with Angelman-like features?

L. Pasquier, M. Gerard-Blanluet, A. Aboura, 2008, Journal of Medical Genetics.

Nail and phalangeal agenesis in a patient with 4pter and 9pter duplication

A. Verloes, M. Gérard, A. Aboura, 2012, American journal of medical genetics. Part A.

Array comparative genomic hybridization profiling analysis reveals deoxyribonucleic acid copy number variations associated with premature ovarian failure.

R. Frydman, B. Donadille, N. Bourcigaux, 2009, The Journal of clinical endocrinology and metabolism.

Identification of gene copy number variations in patients with mental retardation using array-CGH: Novel syndromes in a large French series.

J. Mosser, A. Toutain, A. Verloes, 2010, European journal of medical genetics.

Parental origin of the X-chromosome does not influence growth hormone treatment effect in Turner syndrome.

J. Coste, B. Gérard, J. Carel, 2012, The Journal of clinical endocrinology and metabolism.

Discordant prenatal diagnosis of trisomy 21 due to mosaic structural rearrangements of chromosome 21

R. Frydman, G. Tachdjian, F. Audibert, 2003, Prenatal diagnosis.

De novo interstitial direct duplication 1(q23.1q31.1) in a fetus with Pierre Robin sequence and camptodactyly.

R. Frydman, G. Tachdjian, F. Audibert, 2002, American journal of medical genetics.

Pure and complete trisomy 18p due to a supernumerary marker chromosome associated with moderate mental retardation

G. Tachdjian, A. Aboura, S. Brisset, 2007, American journal of medical genetics. Part A.

Cytogenetic analysis from DNA by comparative genomic hybridization.

G. Tachdjian, A. Aboura, F. Viguié, 2000, Annales de genetique.

Female pseudohermaphroditism in a fetus with a deletion 9(q22.2q31.1)

R. Frydman, G. Tachdjian, F. Audibert, 2002, Prenatal diagnosis.

First cryptic balanced reciprocal translocation mosaicism and familial transmission

A. Aboura, B. Benzacken, C. Dupont, 2008, American journal of medical genetics. Part A.

Genomic imbalances detected by array-CGH in patients with syndromal ocular developmental anomalies

P. Gressens, A. Toutain, N. Chassaing, 2012, European Journal of Human Genetics.

Abnormal muscle development of the diaphragm in a fetus with 2p14–p16 duplication

J. Oury, A. Verloes, A. Aboura, 2009, American journal of medical genetics. Part A.

Common 4q24 deletion in four cases of hematopoietic malignancy: early stem cell involvement?

N. Casadevall, A. Delmer, G. Tachdjian, 2005, Leukemia.

Double‐outlet right ventricle with absent left ventricle and mitral atresia in a fetus with a deletion 22q12

G. Tachdjian, F. Audibert, A. Aboura, 2004, Prenatal diagnosis.

3D position of pericentromeric heterochromatin within the nucleus of a patient with ICF syndrome

C. Baumann, D. Le Tessier, C. Baumann, 2012, Clinical Genetics.

Tetrasomy 13q31.1qter due to an inverted duplicated neocentric marker chromosome in a fetus with multiple malformations

L. Tosca, G. Tachdjian, A. Aboura, 2012, American journal of medical genetics. Part A.

Partial trisomy of chromosome 22 resulting from a supernumerary marker chromosome 22 in a child with features of cat eye syndrome

A. Verloes, C. Baumann, M. Gerard-Blanluet, 2008, American journal of medical genetics. Part A.

Molecular characterization of 39 de novo sSMC: contribution to prognosis and genetic counselling, a prospective study

P. Chambon, L. Faivre, S. Jacquemont, 2014, Clinical genetics.

Refinement of genotype‐phenotype correlation in 18 patients carrying a 1q24q25 deletion

Z. Tümer, H. Stewart, C. Ruivenkamp, 2015, American journal of medical genetics. Part A.

Semilobar holoprosencephaly prenatal diagnosis: an unexpected complex rearrangement in a de novo apparently balanced reciprocal translocation on karyotype

C. Garel, P. Gressens, L. Carbillon, 2007, Prenatal Diagnosis.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus

L. Coin, C. Gieger, R. Pfundt, 2011, Nature.

Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus.

P. Elliott, M. Jarvelin, C. Gieger, 2021 .

Maternal transmission of interstitial 8p23.1 deletion detected during prenatal diagnosis

A. Aboura, C. Dupont, F. Guimiot, 2013, American journal of medical genetics. Part A.

Beckwith–Wiedemann syndrome and long QT syndrome due to familial‐balanced translocation t(11;17)(p15.5;q21.3) involving the KCNQ1 gene

A. Verloes, C. Baumann, I. Denjoy, 2013, Clinical genetics.

Clinical and molecular delineation of Tetrasomy 9p syndrome: Report of 12 new cases and literature review

A. Toutain, A. Verloes, L. Pasquier, 2015, American journal of medical genetics. Part A.