J. Martinovic

P. Sonigo, A. Benachi, J. Martinovic, 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Defective angiogenesis in hypoplastic human fetal lungs correlates with nitric oxide synthase deficiency that occurs despite enhanced angiopoietin-2 and VEGF.

C. Delacourt, A. Benachi, C. Elie, 2010, American journal of physiology. Lung cellular and molecular physiology.

Evaluation of different formulas for LDL-C calculation

M. Vujovic, J. Martinovic, J. Kotur-Stevuljević, 2010, Lipids in Health and Disease.

Methylmalonic acid and neutrophil morphometric index in laboratory diagnosis of cobalamin deficiency without macrocytosis

J. Martinovic, V. Dopsaj, D. Totoskovic, 2016, International journal of laboratory hematology.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, H. Le Nagard, 2010, Kidney international.

Evidence for and against vertical transmission for severe acute respiratory syndrome coronavirus 2

Y. Ville, J. Martinovic, T. Attié-Bitach, 2020, American Journal of Obstetrics and Gynecology.

Molecular characterisation of a prenatally diagnosed 5q15q21.3 deletion and review of the literature

M. Vekemans, J. Martinovic, T. Attié-Bitach, 2006, Prenatal diagnosis.

17β-Estradiol-Induced Synaptic Rearrangements Are Accompanied by Altered Ectonucleotidase Activities in Male Rat Hippocampal Synaptosomes

J. Sévigny, M. Zarić, N. Mitrović, 2017, Journal of Molecular Neuroscience.

Increased TGF-β: a drawback of tracheal occlusion in human and experimental congenital diaphragmatic hernia?

A. Benachi, J. Martinovic, J. Jani, 2016, American journal of physiology. Lung cellular and molecular physiology.

CD 36 deficiency and insulin resistance

A. Benachi, M. Gubler, J. Martinovic, 2001 .

Oxidative Stress Biomarker Monitoring in Elite Women Volleyball Athletes During a 6-Week Training Period

A. Stefanović, M. Dopsaj, G. Nešić, 2011, Journal of strength and conditioning research.

Molecular Alterations and Effects of Acute Dehydroepiandrosterone Treatment Following Brief Bilateral Common Carotid Artery Occlusion: Relevance to Transient Ischemic Attack

Milorad Dragić, M. Zarić, N. Mitrović, 2019, Neuroscience.

Regional-specific effects of cerebral ischemia/reperfusion and dehydroepiandrosterone on synaptic NMDAR/PSD-95 complex in male Wistar rats

M. Zarić, N. Mitrović, I. Grković, 2018, Brain Research.

Long-term Effects of Oxidative Stress in Volleyball Players

A. Stefanović, M. Dopsaj, G. Nešić, 2009, International journal of sports medicine.

DYNC2H1 mutations cause asphyxiating thoracic dystrophy and short rib-polydactyly syndrome, type III.

A. Munnich, D. Cavalcanti, S. Smithson, 2009, American journal of human genetics.

Bi-allelic variants in WNT7B disrupt the development of multiple organs in humans

F. Alkuraya, J. Baptista, P. Calvas, 2022, Journal of Medical Genetics.

Smooth muscle of the male pelvic floor: an anatomic study.

C. Lebacle, A. Fautrel, J. Martinovic, 2019, Clinical anatomy.

Detailed muscular structure and neural control anatomy of the levator ani muscle: a study based on female human fetuses

E. Darai, C. Lebacle, J. Martinovic, 2018, American journal of obstetrics and gynecology.

Paradoxic Activation of the Renin-Angiotensin System in Twin-Twin Transfusion Syndrome: An Explanation for Cardiovascular Disturbances in the Recipient

N. Fisk, M. Gubler, J. Martinovic, 2005, Pediatric Research.

Null leukemia inhibitory factor receptor (LIFR) mutations in Stuve-Wiedemann/Schwartz-Jampel type 2 syndrome.

A. Munnich, J. Bonaventure, J. Moreau, 2004, American journal of human genetics.

Gender-Specific Oxidative Stress Parameters

M. Dopsaj, N. Bogavac-Stanojević, J. Martinovic, 2010, International journal of sports medicine.

CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype–phenotype correlation

A. Munnich, N. Boddaert, R. Salomon, 2009, Human mutation.

Developmental Changes in Endothelial Vasoactive and Angiogenic Growth Factors in the Human Perinatal Lung

J. Martinovic, F. Jaubert, C. Maurey, 2005, Pediatric Research.

NEK1 and DYNC2H1 are both involved in short rib polydactyly Majewski type but not in Beemer Langer cases

A. Munnich, G. Mortier, G. Scarano, 2012, Journal of Medical Genetics.

Refining the clinicopathological pattern of cerebral proliferative glomeruloid vasculopathy (Fowler syndrome): report of 16 fetal cases.

C. Fallet-Bianco, A. Laquérriere, M. Vekemans, 2009, European journal of medical genetics.

Paraoxonase activity in athletes with depleted iron stores and iron-deficient erythropoiesis.

A. Stefanović, M. Dopsaj, J. Martinovic, 2010, Clinical biochemistry.

Mutation in IFT80 in a fetus with the phenotype of Verma-Naumoff provides molecular evidence for Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009, Journal of Medical Genetics.

Discriminant analysis of cardiovascular and respiratory variables for classification of road cyclists by specialty.

J. Martinovic, Milan Matić, Đ. Stefanović, 2019, The Journal of sports medicine and physical fitness.

Complex translocation t(1;12;14)(q42;q14;q32) and HMGA2 deletion in a fetus presenting growth delay and bilateral cataracts.

A. Benachi, A. Briand-Suleau, L. Tosca, 2015, European journal of medical genetics.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

A. Munnich, R. Salomon, B. Estournet, 2013, Journal of Medical Genetics.

molecular evidence for the Jeune-Verma-Naumoff dysplasia spectrum

A. Munnich, D. Cavalcanti, M. Vekemans, 2009 .

Occurrence of left versus right heart hypoplasia in a pair of dizygotic twins

A. Benachi, M. Vekemans, F. Encha-Razavi, 2003, American journal of medical genetics. Part A.

Fetal Cerebral Ventricular Dilatation: Etiopathogenic Study of 130 Observations.

Y. Ville, J. Bernard, M. Vekemans, 2017, Birth defects research.

Molecular Workup Guided by Fetal Examination

N. Sebire, J. Martinovic, 2020 .

Progesterone Protects Prefrontal Cortex in Rat Model of Permanent Bilateral Common Carotid Occlusion via Progesterone Receptors and Akt/Erk/eNOS

M. Zarić, N. Mitrović, I. Grković, 2019, Cellular and Molecular Neurobiology.

Discovering a new part of the phenotypic spectrum of Coffin-Siris syndrome in a fetal cohort.

J. Rosenfeld, A. V. Vulto-van Silfhout, E. Eichler, 2022, Genetics in medicine : official journal of the American College of Medical Genetics.

SALL 4 and NFATC 2 : two major actors of interstitial 20 q 13 . 2 duplication

A. Briand-Suleau, L. Tosca, J. Martinovic, 2017 .

SALL4 and NFATC2: two major actors of interstitial 20q13.2 duplication.

J. Vermeesch, A. Benachi, A. Briand-Suleau, 2014, European journal of medical genetics.

Association of the atherogenic index of plasma and oxidative stress status with weight gain during non-complicated pregnancy

A. Stefanović, Z. Jelić-Ivanović, J. Martinovic, 2012, Clinical chemistry and laboratory medicine.

Preserved efficiency of sickle cell disease placentas despite altered morphology and function.

A. Benachi, F. Vibert, J. Martinovic, 2020, Placenta.

Chronic oral d-galactose intake provokes age-related changes in the rat prefrontal cortex

Milorad Dragić, N. Mitrović, I. Grković, 2022, Behavioural Brain Research.

Sodium/iodide symporter (NIS) gene expression is the limiting step for the onset of thyroid function in the human fetus.

M. Polak, S. Michiels, J. Bidart, 2007, The Journal of clinical endocrinology and metabolism.

Teratogen-induced, dietary and genetic models of congenital diaphragmatic hernia share a common mechanism of pathogenesis.

J. Greer, A. Benachi, Robin D Clugston, 2006, The American journal of pathology.

Surfactant Maturation Is Not Delayed in Human Fetuses with Diaphragmatic Hernia

A. Benachi, C. Elie, J. Martinovic, 2007, PLoS medicine.

Severe prenatal renal anomalies associated with mutations in HNF1B or PAX2 genes.

R. Salomon, C. Antignac, U. Jensen, 2013, Clinical journal of the American Society of Nephrology : CJASN.

Prenatal diagnosis of isochromosome 20q in a fetus with vertebral anomaly and rocker-bottom feet.

L. Tosca, G. Tachdjian, J. Martinovic, 2017, Taiwanese journal of obstetrics & gynecology.

Congenital diaphragmatic hernia has a better prognosis when associated with a hernia sac

A. Benachi, M. Senat, J. Martinovic, 2018, Prenatal diagnosis.

Contribution of fetal MR imaging in the prenatal diagnosis of Zellweger syndrome.

N. Boddaert, P. Sonigo, F. Brunelle, 2006, AJNR. American journal of neuroradiology.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2014, Human Genetics.

THE RECEPTION OF C.G. JUNG IN US DEATH AND DYING STUDIES

J. Martinovic, 2018, Phanes: Journal For Jung History.

First‐trimester diagnosis of osteogenesis imperfecta associated with encephalocele by conventional and three‐dimensional ultrasound

A. Benachi, J. Martinovic, R. Ruano, 2003, Prenatal diagnosis.

Dysregulation of the NRG1-ERBB pathway causes a developmental disorder with gastrointestinal dysmotility in humans.

T. Molina, H. Smeets, R. Hofstra, 2021, The Journal of clinical investigation.

17β-Estradiol upregulates ecto-5′-nucleotidase (CD73) in hippocampal synaptosomes of female rats through action mediated by estrogen receptor-α and -β

J. Sévigny, M. Zarić, N. Mitrović, 2016, Neuroscience.

Systemic arteriovenous fistula leads to pulmonary artery remodeling and abnormal vasoreactivity in the fetal lamb.

J. Martinovic, A. Dinh-Xuan, S. Lanone, 2003, American journal of physiology. Lung cellular and molecular physiology.

Stomach position versus liver-to-thoracic volume ratio in left-sided congenital diaphragmatic hernia

A. Benachi, M. Senat, J. Martinovic, 2015, The journal of maternal-fetal & neonatal medicine : the official journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians.

Levator ani muscle innervation: Anatomical study in human fetus

E. Darai, C. Lebacle, J. Chevallier, 2017, Neurourology and urodynamics.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

A. Munnich, C. Fallet-Bianco, I. Gut, 2021, Journal of Medical Genetics.

with expression during human development truncating mutations correlates CHD7 fetuses with Phenotypic spectrum of CHARGE syndrome in

A. Munnich, C. Cruaud, M. Gonzalès, 2009 .

Phenotypic spectrum of CHARGE syndrome in fetuses with CHD7 truncating mutations correlates with expression during human development

J. Weissenbach, A. Munnich, C. Cruaud, 2005, Journal of Medical Genetics.

WDR81 mutations cause extreme microcephaly and impair mitotic progression in human fibroblasts and Drosophila neural stem cells

N. Boddaert, A. Verloes, P. Nitschké, 2017, Brain : a journal of neurology.

Thanatophoric dysplasia caused by double missense FGFR3 mutations

A. Munnich, S. Pannier, J. Martinovic, 2009, American journal of medical genetics. Part A.

Mutation screening in patients with syndromic craniosynostoses indicates that a limited number of recurrent FGFR2 mutations accounts for severe forms of Pfeiffer syndrome

J. Bonaventure, D. Rénier, J. Martinovic, 2006, European Journal of Human Genetics.

Vertebral anomalies and cartilaginous tracheal sleeve in three patients with Pfeiffer syndrome carrying the S351C FGFR2 mutation

L. Pasquier, M. Gonzalès, J. Bonaventure, 2005, Clinical genetics.

Early prenatal diagnosis of alveolar capillary dysplasia with misalignment of pulmonary veins due to a 16q24.1 deletion

G. Tachdjian, J. Martinovic, F. Petit, 2021, American journal of medical genetics. Part A.

Practical Manual of Fetal Pathology

J. Martinovic, 2021 .

Co-Occurrence of Multifocal Chorioangiomatosis and Mesenchymal Dysplasia in Preeclampsia

A. Benachi, J. Martinovic, R. Baergen, 2013, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Prenatal diagnosis of a ring chromosome 14 in a fetus with a severe skeletal dysplasia

M. Vekemans, B. Aral, F. Encha-Razavi, 2008, Prenatal diagnosis.

Antenatal spectrum of CHARGE syndrome in 40 fetuses with CHD7 mutations

C. Fallet-Bianco, Y. Ville, B. Gilbert-Dussardier, 2012, Journal of Medical Genetics.

Three‐dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia

P. Sonigo, F. Brunelle, A. Benachi, 2013, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Confined blood chimerism in a monochorionic dizygotic sex discordant twin pregnancy conceived after induced ovulation.

A. Benachi, L. Tosca, G. Tachdjian, 2016, Birth defects research. Part A, Clinical and molecular teratology.

Decreased lung fibroblast growth factor 18 and elastin in human congenital diaphragmatic hernia and animal models.

A. Benachi, B. Thébaud, J. Martinovic, 2007, American journal of respiratory and critical care medicine.

Decreased Lung Fibroblast Growth Factor 18 and Elastin in Congenital Diaphragmatic Hernia and Models

A. Benachi, B. Thébaud, J. Martinovic, 2007 .

Molecular diagnosis of PIK3CA-related overgrowth spectrum (PROS) in 162 patients and recommendations for genetic testing

R. Touraine, C. Chiaverini, J. Rivière, 2017, Genetics in Medicine.

Expression of ecto-nucleoside triphosphate diphosphohydrolase3 (NTPDase3) in the female rat brain during postnatal development

N. Mitrović, N. Nedeljkovic, I. Grković, 2016, Journal of Chemical Neuroanatomy.

Fetal toxic effects and angiotensin-II-receptor antagonists

A. Benachi, M. Gubler, J. Martinovic, 2001, The Lancet.

Targeted Exome Sequencing Identifies PBX1 as Involved in Monogenic Congenital Anomalies of the Kidney and Urinary Tract.

R. Salomon, C. Antignac, S. Saunier, 2017, Journal of the American Society of Nephrology : JASN.

Complex Compound Inheritance of Lethal Lung Developmental Disorders Due to Disruption of the TBX-FGF Pathway.

Justyna A. Karolak, H. Mefford, W. Chung, 2019, American journal of human genetics.

High‐throughput sequencing of a 4.1 Mb linkage interval reveals FLVCR2 deletions and mutations in lethal cerebral vasculopathy

G. Gyapay, A. Munnich, A. Laquérriere, 2010, Human mutation.

Bardet‐Biedl syndrome: Antenatal presentation of forty‐five fetuses with biallelic pathogenic variants in known Bardet‐Biedl syndrome genes

B. Gilbert-Dussardier, K. Chennen, O. Poch, 2019, Clinical genetics.

A series of 38 novel germline and somatic mutations of NIPBL in Cornelia de Lange syndrome

L. Pasquier, L. Faivre, S. Blesson, 2016, Clinical genetics.

Accuracy of fetal lung volume assessed by three‐dimensional sonography

A. Benachi, J. Martinovic, R. Ruano, 2005, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Factors associated with partial and complete regression of fetal lung lesions

C. Delacourt, Y. Révillon, A. Benachi, 2011, Ultrasound in Obstetrics and Gynecology.

Antenatal ultrasound prediction of pulmonary hypoplasia in congenital diaphragmatic hernia: correlation with pathology

A. Benachi, M. Senat, J. Martinovic, 2011, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

RET and GDNF mutations are rare in fetuses with renal agenesis or other severe kidney development defects

R. Salomon, C. Antignac, P. Nitschké, 2011, Journal of Medical Genetics.

Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies.

C. Fallet-Bianco, D. Figarella-Branger, A. Laquérriere, 2012, Brain : a journal of neurology.

The ciliary gene RPGRIP1L is mutated in cerebello-oculo-renal syndrome (Joubert syndrome type B) and Meckel syndrome

Colin A. Johnson, Nathalie Boddaert, Sophie Saunier, 2007, Nature Genetics.

Can Three-Dimensional Ultrasound Be Used for the Assessment of the Fetal Lung Volume in Cases of Congenital Diaphragmatic Hernia?

A. Benachi, J. Martinovic, R. Ruano, 2003, Fetal Diagnosis and Therapy.

Predicting pulmonary hypoplasia using the sonographic fetal lung volume to body weight ratio — how precise and accurate is it?

A. Benachi, J. Martinovic, R. Ruano, 2006, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

Loss of function mutations in EPHB4 are responsible for vein of Galen aneurysmal malformation

Cynthia J. Grondin, M. Gut, I. Gut, 2018, Brain : a journal of neurology.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

C. Fallet-Bianco, F. Artiguenave, F. Rivier, 2015, European Journal of Human Genetics.

Prenatal detection of a 1p36 deletion in a fetus with multiple malformations and a review of the literature

A. Munnich, L. Faivre, M. Vekemans, 1999, Prenatal diagnosis.

Pleiotropic effects of CEP290 (NPHP6) mutations extend to Meckel syndrome.

Colin A. Johnson, A. Munnich, E. Génin, 2007, American journal of human genetics.

Neuropathological review of 138 cases genetically tested for X-linked hydrocephalus: evidence for closely related clinical entities of unknown molecular bases

N. Drouot, C. Fallet-Bianco, P. Gressens, 2013, Acta Neuropathologica.

Treacher Collins syndrome: a clinical and molecular study based on a large series of patients

J. Laplanche, S. Julia, A. Toutain, 2015, Genetics in Medicine.

Fetal cerebral hemorrhage due to X‐linked GATA1 gene mutation

L. D. Da Costa, M. Senat, F. Encha-Razavi, 2018, Prenatal diagnosis.

Phenotypic variability of Bardet-Biedl syndrome: focusing on the kidney

M. Gubler, J. Martinovic, T. Attié-Bitach, 2010, Pediatric Nephrology.

Prenatal Diagnosis of a 2.5 Mb De Novo 17q24.1q24.2 Deletion Encompassing KPNA2 and PSMD12 Genes in a Fetus with Craniofacial Dysmorphism, Equinovarus Feet, and Syndactyly

L. Tosca, G. Tachdjian, J. Martinovic, 2017, Case reports in genetics.

Metabolic causes of nonimmune hydrops fetalis: A next-generation sequencing panel as a first-line investigation.

F. Lamari, A. Laquérriere, S. Coutant, 2018, Clinica chimica acta; international journal of clinical chemistry.

Copy number variations analysis in a cohort of 47 fetuses and newborns with congenital diaphragmatic hernia

A. Benachi, L. Tosca, G. Tachdjian, 2022, Prenatal diagnosis.

Spectrum of MKS1 and MKS3 mutations in Meckel syndrome: a genotype‐phenotype correlation

Colin A. Johnson, Arnold Munnich, Fiona Macdonald, 2007, Human mutation.

Diminutive fetal left ventricle at mid‐gestation associated with persistent left superior vena cava and coronary sinus dilatation

J. Martinovic, D. Bonnet, O. Picone, 2003, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

The effect of a systemic arteriovenous fistula on the pulmonary arterial blood pressure in the fetal sheep

F. Laborde, J. Martinovic, R. Roussin, 2002, Prenatal diagnosis.

Loss‐of‐function mutations in KIF14 cause severe microcephaly and kidney development defects in humans and zebrafish

S. Saunier, J. Roume, C. Jeanpierre, 2018, Human molecular genetics.

Analysis of human samples reveals impaired SHH-dependent cerebellar development in Joubert syndrome/Meckel syndrome

Nathalie Spassky, N. Spassky, F. Encha-Razavi, 2012, Proceedings of the National Academy of Sciences.

Fetal Intestinal Obstruction Induces Alteration of Enteric Nervous System Development in Human Intestinal Atresia

N. Brousse, P. Landais, S. Sarnacki, 2004, Pediatric Research.

Think of the Conus Medullaris at the Time of Diagnosis of Fetal Sacral Agenesis

A. Benachi, N. Mottet, J. Martinovic, 2016, Fetal Diagnosis and Therapy.

Mutations in GREB1L Cause Bilateral Kidney Agenesis in Humans and Mice.

F. Silbermann, S. Saunier, C. Bole-Feysot, 2017, American journal of human genetics.

Role of Ectonucleotidases in Synapse Formation During Brain Development: Physiological and Pathological Implications

N. Mitrović, I. Grković, J. Martinovic, 2017, Current neuropharmacology.

Prenatal diagnosis and molecular characterization of an interstitial 1q24.2q25.2 deletion.

M. Vekemans, J. Martinovic, C. Turleau, 2006, European journal of medical genetics.

A practical approach to the examination of the malformed fetal brain: impact on genetic counselling

A. Laquérriere, M. Gonzalès, M. Vekemans, 2008, Pathology.

The Urinary System

J. Martinovic, 2022, Keeling's Fetal and Neonatal Pathology.

The association of gastroschisis with other congenital anomalies: how important is it?

A. Benachi, J. Martinovic, R. Ruano, 2011, Prenatal diagnosis.

New Insight on FGFR3-Related Chondrodysplasias Molecular Physiopathology Revealed by Human Chondrocyte Gene Expression Profiling

A. Munnich, J. Jais, M. Gonzalès, 2009, PloS one.

Molecular heterogeneity in fetal forms of type II lissencephaly

M Joubert, C. Fallet-Bianco, D. Figarella-Branger, 2007, Human mutation.

Hematological, Oxidative Stress, and Immune Status Profiling in Elite Combat Sport Athletes

Nenad Koropanovski, M. Dopsaj, J. Martinovic, 2013, Journal of strength and conditioning research.

Severe and progressive neuronal loss in myelomeningocele begins before 16 weeks of pregnancy.

Y. Ville, F. Causeret, H. Adle-Biassette, 2020, American journal of obstetrics and gynecology.

Bi-allelic variations in CRB2, encoding the crumbs cell polarity complex component 2, lead to non-communicating hydrocephalus due to atresia of the aqueduct of sylvius and central canal of the medulla

P. Nitschké, F. Encha-Razavi, J. Amiel, 2023, Acta Neuropathologica Communications.

A retrospective study on the efficacy of prenatal diagnosis for pregnancies at risk of mitochondrial DNA disorders

A. Munnich, Y. Ville, A. Rötig, 2020, Genetics in Medicine.

Secretory phospholipase A2 expression and activity in preterm clinical chorioamnionitis with fetal involvement.

L. Touqui, L. Guillot, D. De Luca, 2022, American journal of physiology. Lung cellular and molecular physiology.

Haematological and iron-related parameters in male and female athletes according to different metabolic energy demands

M. Dopsaj, J. Martinovic, V. Dopsaj, 2011, European Journal of Applied Physiology.

Pseudofeeders on fetal magnetic resonance imaging predict outcome in vein of Galen malformations

Guillaume Saliou, Catherine Adamsbaum, C. Adamsbaum, 2017, Annals of neurology.

Lipid peroxidation as risk factor for endothelial dysfunction in antiphospholipid syndrome patients

J. Martinovic, S. Radovanović, J. Kotur-Stevuljević, 2016, Clinical Rheumatology.

Broadening the phenotypic spectrum of TUBA1A tubulinopathy to syndromic arthrogryposis multiplex congenita

J. Melki, J. Steffann, F. Encha-Razavi, 2022, American journal of medical genetics. Part A.

First prenatal case of proximal 19p13.12 microdeletion syndrome: New insights and new delineation of the syndrome.

L. Tosca, G. Tachdjian, J. Amiel, 2018, European journal of medical genetics.

Prenatal Diagnosis of COL4A1 Mutations in Eight Cases: Further Delineation of the Neurohistopathological Phenotype

C. Fallet-Bianco, A. Benachi, F. Encha-Razavi, 2022, Pediatric and developmental pathology : the official journal of the Society for Pediatric Pathology and the Paediatric Pathology Society.

Targeted next‐generation sequencing in a large series of fetuses with severe renal diseases

S. Saunier, C. Bénéteau, C. Jeanpierre, 2022, Human mutation.

Prenatal cortical hyperostosis with COL1A1 gene mutation

A. Munnich, J. Martinovic, M. le Merrer, 2008, American Journal of Medical Genetics. Part A.

The male external urethral sphincter is autonomically innervated

A. Tewari, C. Lebacle, J. Martinovic, 2020, Clinical anatomy.

Neocortical neuronal arrangement in LIS1 and DCX lissencephaly may be different

A. Munnich, P. Sonigo, F. Brunelle, 2004, American journal of medical genetics. Part A.

Fluorescence in situ hybridization (FISH) rather than ultrasound for the evaluation of fetuses at risk for 22q11.2 deletion

S. Romana, J. Martinovic, D. Bonnet, 2003, Prenatal diagnosis.

[Ultrasonographic and pathological correlation in a fetal intracranial cyst: a case of "diencephalo-synapsis"].

F. Encha-Razavi, J. Martinovic, J. Tantau, 2002, Journal de gynecologie, obstetrique et biologie de la reproduction.

No correlation between mtDNA amount and methylation levels at the CpG island of POLG exon 2 in wild-type and mutant human differentiated cells

A. Munnich, J. Steffann, A. Rotig, 2017, Journal of Medical Genetics.

WNT10B variants in split hand/foot malformation: Report of three novel families and review of the literature

F. Escande, A. Moncla, J. Martinovic, 2019, American journal of medical genetics. Part A.

Oxidative stress and platelet activation during on-pump and off-pump coronary artery bypass grafting in patients with double grafted vessels

N. Bogavac-Stanojević, J. Martinovic, N. Milic, 2016 .

Molecular screening of the ZFHX1B gene in prenatally diagnosed isolated agenesis of the corpus callosum

A. Munnich, S. Lyonnet, Y. Espinosa-Parrilla, 2004, Prenatal diagnosis.

Mutation analysis of the STRA6 gene in isolated and non‐isolated anophthalmia/microphthalmia

P. Calvas, N. Chassaing, A. Kariminejad, 2013, Clinical genetics.

Fetal phenotype of Rubinstein‐Taybi syndrome caused by CREBBP mutations

P. Fergelot, J. Toutain, D. Lacombe, 2019, Clinical genetics.

Progesterone Protects Prefrontal Cortex in Rat Model of Permanent Bilateral Common Carotid Occlusion via Progesterone Receptors and Akt/Erk/eNOS

M. Zarić, N. Mitrović, I. Grković, 2019, Cellular and Molecular Neurobiology.

Excluding deep venous thrombosis in symptomatic outpatients: is fibrin monomer aid to D-dimer analysis?

N. Bogavac-Stanojević, J. Martinovic, J. Kotur-Stevuljević, 2009, Blood coagulation & fibrinolysis : an international journal in haemostasis and thrombosis.

Early second‐trimester diagnosis of intracranial teratoma

A. Benachi, J. Martinovic, S. Delahaye, 2009, Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology.

A neuropathological study of novel RTTN gene mutations causing a familial microcephaly with simplified gyral pattern

P. Sonigo, A. Benachi, D. Lacombe, 2018, Birth defects research.

Rare ACTG1 variants in fetal microlissencephaly.

C. Fallet-Bianco, A. Laquérriere, A. Boland, 2015, European journal of medical genetics.

Two separate placental masses on ultrasound do not always indicate a dichorionic pregnancy.

M. Senat, J. Martinovic, Aurore Bonnin, 2020, Journal of gynecology obstetrics and human reproduction.

Association of Socioeconomic Factors and Sedentary Lifestyle in Belgrade’s Suburb, Working Class Community

N. Djonovic, J. Martinovic, Slavica KONEVIC, 2015, Iranian journal of public health.

De novo mutations of SCN1A are responsible for arthrogryposis broadening the SCN1A-related phenotypes

C. Fallet-Bianco, J. Melki, A. Laquérriere, 2020, Journal of Medical Genetics.

Umbilical vein thrombosis: to deliver or not to deliver at the time of diagnosis?

A. Benachi, J. Martinovic, O. Picone, 2014, Clinical case reports.

Clinical, genetic and biochemical signatures of RBP4-related ocular malformations

R. Holt, N. Chassaing, D. Bax, 2023, Journal of Medical Genetics.

The Urinary System

J. Martinovic, 2022, Keeling's Fetal and Neonatal Pathology.

Bi-allelic MYH3 loss-of-function variants cause a lethal form of contractures, pterygia, and spondylocarpotarsal fusion syndrome 1B

Joshua S. Clayton, J. Melki, G. Ravenscroft, 2022, Neuromuscular Disorders.

C5orf42 is the major gene responsible for OFD syndrome type VI

H. Kayserili, J. Rivière, D. Lacombe, 2013, Human Genetics.

Genotype-phenotype correlations in fetuses and neonates with autosomal recessive polycystic kidney disease.

E. Denamur, A. Laquérriere, M. Gonzalès, 2010, Kidney international.

Mosaic parental germline mutations causing recurrent forms of malformations of cortical development

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