M. Kammoun

发表

Noninvasive prenatal testing using a novel analysis pipeline to screen for all autosomal fetal aneuploidies improves pregnancy management

H. Peeters, K. Devriendt, J. Vermeesch, 2015, European Journal of Human Genetics.

RLIM enhances BMP signalling mediated fetal lung development in mice

J. Gribnau, A. Zwijsen, J. Vermeesch, 2018 .

Clinical and molecular characterization of 1q43q44 deletion and corpus callosum malformations: 2 new cases and literature review

A. Saâd, N. Gouider-Khouja, S. Dimassi, 2022, Molecular Cytogenetics.

Relationship between sperm aneuploidy, sperm DNA integrity, chromatin packaging, traditional semen parameters, and recurrent pregnancy loss.

A. Saâd, S. Mougou-Zerelli, S. Brahem, 2016, Fertility and sterility.

Sperm fluorescent in situ hybridisation study of interchromosomal effect in six Tunisian carriers of reciprocal and Robertsonian translocations

A. Saâd, S. Mougou-Zerelli, W. Slimani, 2018, Andrologia.

Detection of aneuploidy rate for chromosomes X, Y and 8 by fluorescence in-situ hybridization in spermatozoa from patients with severe non-obstructive oligozoospermia

A. Saâd, S. Mougou-Zerelli, H. Elghezal, 2011, Journal of Assisted Reproduction and Genetics.

Subtelomeric Rearrangements in Patients with Recurrent Miscarriage

A. Saâd, S. Mougou-Zerelli, W. Slimani, 2018, International journal of fertility & sterility.

Novel homozygous nonsense mutations in the luteinizing hormone receptor (LHCGR) gene associated with 46,XY primary amenorrhea.

K. McElreavey, A. Saâd, A. Bashamboo, 2016, Fertility and sterility.

Array Characterization of Prenatally Diagnosed 15q26 Microdeletion and 2q37.1 Duplication: Report of a New Case with Multicystic Kidneys and Review of the Literature

A. Saâd, S. Mougou-Zerelli, W. Slimani, 2017, Journal of Pediatric Genetics.

NOBOX is a strong autosomal candidate gene in Tunisian patients with primary ovarian insufficiency

A. Saâd, J. Warszawski, A. Guiochon‐Mantel, 2016, Clinical genetics.

Pathogenic variants in E3 ubiquitin ligase RLIM/RNF12 lead to a syndromic X-linked intellectual disability and behavior disorder

K. Friend, M. Shaw, E. Haan, 2019, Molecular Psychiatry.

Congenital diaphragmatic hernia as a part of Nance–Horan syndrome?

K. Devriendt, J. Vermeesch, J. Deprest, 2018, European Journal of Human Genetics.

Additional evidence for the role of chromosomal imbalances and SOX8, ZNRF3 and HHAT gene variants in early human testis development

M. Gribaa, K. McElreavey, A. Saâd, 2023, Reproductive Biology and Endocrinology.

Pathogenic variants in CDC45 on the remaining allele in patients with a chromosome 22q11.2 deletion result in a novel autosomal recessive condition

E. Zackai, J. Vermeesch, B. Emanuel, 2019, Genetics in Medicine.

Clinical and molecular findings in nine new cases of tetrasomy 18p syndrome: FISH and array CGH characterization

A. Saâd, D. Sanlaville, S. Dimassi, 2019, Molecular Cytogenetics.

Microarray Analysis of 8p23.1 Deletion in New Patients with Atypical Phenotypical Traits

A. Saâd, D. Sanlaville, S. Mougou-Zerelli, 2015, Journal of Pediatric Genetics.

Pulmonary transcriptome analysis in the surgically induced rabbit model of diaphragmatic hernia treated with fetal tracheal occlusion

J. Vermeesch, J. Deprest, J. Toelen, 2016, Disease Models & Mechanisms.

Title : Pulmonary transcriptome analysis in the rabbit model of surgically-induced diaphragmatic hernia treated with fetal tracheal occlusion

J. Vermeesch, J. Deprest, J. Toelen, 2016 .

Further report of MEDS syndrome: Clinical and molecular delineation of a new Tunisian case.

K. McElreavey, A. Saâd, S. Mougou-Zerelli, 2021, European journal of medical genetics.

Genetic profile of isolated congenital diaphragmatic hernia revealed by targeted next‐generation sequencing

K. Devriendt, J. Vermeesch, J. Deprest, 2018, Prenatal diagnosis.