J. Alessandri

发表

RAB23 mutation in a large family from Comoros Islands with Carpenter syndrome

N. Dagoneau, V. Cormier-Daire, J. Laville, 2010, American journal of medical genetics. Part A.

Recessive loss of function PIGN alleles, including an intragenic deletion with founder effect in La Réunion Island, in patients with Fryns syndrome

C. Bole-Feysot, P. Nitschké, J. Thevenon, 2018, European Journal of Human Genetics.

Novel NEK8 Mutations Cause Severe Syndromic Renal Cystic Dysplasia through YAP Dysregulation

R. Salomon, F. Silbermann, C. Antignac, 2016, PLoS genetics.

Congenital heart defects in La Réunion Island: a 6-year survey within a EUROCAT-affiliated congenital anomalies registry

P. Robillard, P. Gérardin, J. Alessandri, 2012, Cardiology in the Young.

Xq28 duplication including MECP2 in six unreported affected females: what can we learn for diagnosis and genetic counselling?

W. Reardon, R. Touraine, A. Afenjar, 2017, Clinical genetics.

Chikungunya fever: CNS infection and pathologies of a re-emerging arbovirus

P. Gasque, M. Jaffar-Bandjee, P. Guiraud, 2010, Progress in Neurobiology.

The expanding spectrum of COL2A1 gene variants IN 136 patients with a skeletal dysplasia phenotype

J. Melki, S. Julia, R. Touraine, 2015, European Journal of Human Genetics.

Crouzon syndrome and Bent bone dysplasia associated with mutations at the same Tyr‐381 residue in FGFR2 gene

F. Di Rocco, É. Arnaud, J. Alessandri, 2014, Clinical genetics.

The diagnostic rate of inherited metabolic disorders by exome sequencing in a cohort of 547 individuals with developmental disorders

J. Thevenon, L. Faivre, C. Philippe, 2021, Molecular genetics and metabolism reports.

Mutation update for the GPC3 gene involved in Simpson‐Golabi‐Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

EFTUD2 haploinsufficiency leads to syndromic oesophageal atresia

A. Munnich, I. Simonic, S. Mehta, 2012, Journal of Medical Genetics.

Tibial developmental field defect in valproic acid embryopathy: Report on three cases

C. Le Caignec, B. Isidor, J. Laville, 2010, American journal of medical genetics. Part A.

T-cell lymphoma and pigtail catheter drainage of a massive paraneoplastic pleuro-pericardial effusion in a child.

J. Alessandri, A. Baruteau, Samuel Vernaz, 2010, European heart journal.

Mother-to-Child Transmission of Chikungunya Virus Infection

J. Alessandri, D. Ramful, A. Fourmaintraux, 2007, The Pediatric infectious disease journal.

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.

Prothrombin Saint‐Denis: a natural variant with a point mutation resulting in Asp to Glu substitution at position 552 in prothrombin

D. Vidaud, M. Dautzenberg, J. Alessandri, 2006, British journal of haematology.

Neurologic Manifestations of Pediatric Chikungunya Infection

M. Jaffar-Bandjee, J. Alessandri, D. Ramful, 2008, Journal of child neurology.

Large deletion of the 5' end of the ROMK1 gene causes antenatal Bartter syndrome.

G. Deschênes, J. Alessandri, D. Feldmann, 1998, Journal of the American Society of Nephrology : JASN.

Large Deletion of the 5 ' End of the ROMK 1 Gene Causes

J. Alessandri, D. Feldmann, 1998 .

[Severe forms of chikungunya virus infection in a pediatric intensive care unit on Reunion Island].

M. Jaffar-Bandjee, J. Alessandri, D. Ramful, 2012, Medecine tropicale : revue du Corps de sante colonial.

Severe bullous skin lesions associated with Chikungunya virus infection in small infants

M. Jaffar-Bandjee, K. Ezzedine, J. Alessandri, 2009, European Journal of Pediatrics.

Spectrum of mutations in the renin–angiotensin system genes in autosomal recessive renal tubular dysgenesis

R. Deberardinis, H. Firth, J. Tolmie, 2012, Human mutation.

First Case of Acute Myocarditis Caused by Metapneumovirus in an Immunocompromised 14-year-old Girl

J. Alessandri, D. Ramful, Y. Levy, 2022, Indian journal of critical care medicine : peer-reviewed, official publication of Indian Society of Critical Care Medicine.

Clinical and neuroimaging findings in 33 patients with MCAP syndrome: A survey to evaluate relevant endpoints for future clinical trials

R. Touraine, A. Toutain, N. Chassaing, 2021, Clinical genetics.

[Chikungunya in paediatrics: epidemic of 2005-2006 in Saint-Denis, Reunion Island].

J. Alessandri, M. Jaffar, S. Robin, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Delineation of EFTUD2 Haploinsufficiency‐Related Phenotypes Through a Series of 36 Patients

A. Munnich, N. Baena, A. Verloes, 2014, Human mutation.

STROBE Statement—Checklist of items that should be included in reports of cohort studies

M. Kaminski, M. Jaffar-Bandjee, A. Michault, 2016 .

Molecular findings and clinical data in a cohort of 150 patients with anophthalmia/microphthalmia

A. Toutain, P. Calvas, N. Chassaing, 2014, Clinical genetics.

Perlman syndrome: Report, prenatal findings and review

S. Rossignol, J. Alessandri, D. Ramful, 2008, American journal of medical genetics. Part A.

J. Alessandri, B. Doray, P. Gueguen, 2022, European journal of medical genetics.

Infections graves à virus chikungunya en réanimation pédiatrique à l’Ile de la Réunion

M. Jaffar-Bandjee, J. Alessandri, S. Robin, 2012 .

Maternal vitamin K deficient embryopathy: Association with hyperemesis gravidarum and Crohn disease

N. Brunetti‐Pierri, J. Mulliken, R. Pauli, 2013, American journal of medical genetics. Part A.

W. Dobyns, K. Aldinger, B. Isidor, 2019, American journal of medical genetics. Part C, Seminars in medical genetics.

Mutations in RIT1 cause Noonan syndrome with possible juvenile myelomonocytic leukemia but are not involved in acute lymphoblastic leukemia

H. Cavé, A. Toutain, V. Drouin‐Garraud, 2016, European Journal of Human Genetics.

Specific variants in WDR35 cause a distinctive form of Ellis-van Creveld syndrome by disrupting the recruitment of the EvC complex and SMO into the cilium.

M. Digilio, J. Goodship, P. Lapunzina, 2015, Human molecular genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human mutation.

Fryns syndrome without diaphragmatic hernia, DOOR syndrome or Fryns‐like syndrome? Report on patients from Indian Ocean islands

J. Alessandri, D. Ramful, V. Malan, 2014, American journal of medical genetics. Part A.

Evaluation of the management of pregnancies and infants at risk for congenital syphilis: La Réunion, 2008 to 2014

J. Alessandri, F. Cuillier, S. Robin, 2017, Journal of Perinatology.

Congenital Syphilis, Réunion Island, 2010

E. D’Ortenzio, A. Gallay, P. Robillard, 2011, Emerging infectious diseases.

[Severe forms of eosinophilic meningitis in infants of Mayotte. Apropos of 3 cases].

M. Jaffar-Bandjee, J. Alessandri, J. Hébert, 1999, Bulletin de la Societe de pathologie exotique.

Further delineation of the MECP2 duplication syndrome phenotype in 59 French male patients, with a particular focus on morphological and neurological features

S. Julia, R. Touraine, A. Afenjar, 2018, Journal of Medical Genetics.

High prevalence of Bardet‐Biedl syndrome in La Réunion Island is due to a founder variant in ARL6/BBS3

H. Dollfus, M. Jacquemont, J. Alessandri, 2020, Clinical genetics.

Antenatal presentation of hereditary lymphedema type I.

M. Vikkula, J. Alessandri, Y. Levy, 2015, European journal of medical genetics.

Bruck Syndrome: Second Antenatal Diagnosis

X. Fritel, J. Alessandri, F. Cuillier, 2006, Fetal Diagnosis and Therapy.

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity. International Collaborative Study Group for Bartter-like Syndromes.

A. Ziegler, K. Grzeschik, G. Rizzoni, 1997, Human molecular genetics.

Mutations in the gene encoding the inwardly-rectifying renal potassium channel, ROMK, cause the antenatal variant of Bartter syndrome: evidence for genetic heterogeneity

A. Ziegler, G. Rizzoni, C. Antignac, 2019 .

Management of neonatal spontaneous intestinal perforation by peritoneal needle aspiration

J. Alessandri, D. Ramful, S. Sampériz, 2018, Journal of Perinatology.

[Neonatal accidental burn by isopropyl alcohol].

C. Bony, L. Tauzin, J. Alessandri, 2004, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Renal cystic dysplasia, paucity of bile ducts, situs inversus, bowing of the femora in two siblings in the Reunion Island: a ciliopathy?

M. Gubler, J. Alessandri, D. Ramful, 2009, Clinical dysmorphology.

Expanding the clinical and neuroradiologic phenotype of primary microcephaly due to ASPM mutations

I Scala, Alain Verloes, M. Elmaleh, 2009, Neurology.

Maxillo-Nasal Dysplasia (Binder Syndrome): Antenatal Discovery and Implications

J. Alessandri, F. Cuillier, F. Cartault, 2005, Fetal Diagnosis and Therapy.

[Prevalence, severity, and predictors of bronchopulmonary dysplasia in a cohort of very preterm infants].

M. Ogier, P. Robillard, P. Gérardin, 2013, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

A new mutational hotspot in the SKI gene in the context of MFS/TAA molecular diagnosis

J. Clayton-Smith, G. Jondeau, D. Bonneau, 2020, Human Genetics.

Description of Copy Number Variations in a Series of Children and Adolescents with FASD in Reunion Island

J. Alessandri, M. Tallot, P. Gueguen, 2023, Children.

Syndrome de Feingold

J. Alessandri, S. Sampériz, A. Montbrun, 2000 .

[Malignant pertussis in the young infant].

C. Bony, J. Alessandri, S. Sampériz, 2003, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

[Warfarin fetopathy].

C. Bony, J. Alessandri, S. De Napoli, 2002, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Epidemiology of achondroplasia: A population‐based study in Europe

F. Bianchi, E. Garne, M. Haeusler, 2019, American journal of medical genetics. Part A.

Mutation update for the GPC3 gene involved in Simpson–Golabi–Behmel syndrome and review of the literature

A. Toutain, E. Colin, S. Nampoothiri, 2018, Human mutation.

Weill-Marchesani syndrome: natural history and genotype-phenotype correlations from 18 news cases and review of literature

V. Cormier-Daire, C. Francannet, C. Huber, 2023, Journal of medical genetics.

Mutations of the Imprinted CDKN1C Gene as a Cause of the Overgrowth Beckwith–Wiedemann Syndrome: Clinical Spectrum and Functional Characterization

M. Polak, A. Verloes, D. Lacombe, 2015, Human Mutation.

Perlman syndrome: Report, prenatal findings and review

S. Rossignol, J. Alessandri, D. Ramful, 2008, American journal of medical genetics. Part A.

[In utero diagnosis of situs abnormalities. A case of prenatal diagnosis of visceral situs inversus with corrected transposition of great vessels].

J. Alessandri, J. Sommer, T. Abossolo, 1996, Journal de gynecologie, obstetrique et biologie de la reproduction.

Binder phenotype and brachytelephalangic chondrodysplasia punctata secondary to maternal vitamin K deficiency.

J. Alessandri, D. Ramful, F. Cuillier, 2010, Clinical dysmorphology.