S. Sigaudy

发表

Mutations in WNT10A are frequently involved in oligodontia associated with minor signs of ectodermal dysplasia

P. Calvas, N. Chassaing, M. Holder-Espinasse, 2013, American journal of medical genetics. Part A.

Testing for triallelism: analysis of six BBS genes in a Bardet–Biedl syndrome family cohort

M. Cossée, J. Mandel, A. Verloes, 2005, 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.

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.

Outcomes of 4 years of molecular genetic diagnosis on a panel of genes involved in premature aging syndromes, including laminopathies and related disorders

N. Philip, P. Calvas, N. Lévy, 2019, Orphanet Journal of Rare Diseases.

Neuropathological Hallmarks of Brain Malformations in Extreme Phenotypes Related to DYNC1H1 Mutations

F. Chapon, A. Laquérriere, J. Chelly, 2017, Journal of neuropathology and experimental neurology.

Value of fetal skeletal radiographs in the diagnosis of fetal death

N. Philip, M. Panuel, P. Petit, 2003, European Radiology.

Accuracy of prenatal screening for congenital heart disease in population: A retrospective study in Southern France

P. Moceri, A. Loundou, F. Michel, 2020, PloS one.

Phenotypic Spectrum of Simpson–Golabi–Behmel Syndrome in a Series of 42 Cases With a Mutation in GPC3 and Review of the Literature

A. Toutain, N. Philip, A. Verloes, 2013, American journal of medical genetics. Part C, Seminars in medical genetics.

Novel IQCE variations confirm its role in postaxial polydactyly and cause ciliary defect phenotype in zebrafish

K. Chennen, O. Poch, H. Dollfus, 2020, Human mutation.

Prenatal and postnatal diagnosis of 22q11.2 deletion syndrome.

M. Gamerre, N. Philip, S. Sigaudy, 2010, European journal of medical genetics.

Disentangling molecular and clinical stratification patterns in beta-galactosidase deficiency

B. Drénou, S. Coutant, N. Elçioglu, 2021, Journal of Medical Genetics.

Fetal megacystis‐microcolon: Genetic mutational spectrum and identification of PDCL3 as a novel candidate gene

Y. Ville, C. Bole-Feysot, J. Rendu, 2020, Clinical genetics.

Intragenic rearrangements in X‐linked intellectual deficiency: Results of a‐CGH in a series of 54 patients and identification of TRPC5 and KLHL15 as potential XLID genes

A. Mégarbané, S. Julia, N. Philip, 2014, American journal of medical genetics. Part A.

Molecular diagnosis reveals genetic heterogeneity for the overlapping MKKS and BBS phenotypes.

J. Mandel, A. Verloes, D. Bonneau, 2011, European journal of medical genetics.

BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

BBS 10 mutations are frequent in “ Meckel ” type cystic kidneys

Marie-Pierre, Sophie, R. Bouvier, 2018 .

BBS10 mutations are common in ‘Meckel’-type cystic kidneys

R. Salomon, M. Gubler, R. Bouvier, 2010, Journal of Medical Genetics.

Chromosome 12 Open Reading Frame 58

Laurier, J. Mandel, E. Davis, 2006 .

Behavioral and temperamental features of children with Costello syndrome

M. Bouvard, N. Philip, D. Lacombe, 2006, American journal of medical genetics. Part A.

Diagnosis of congenital abnormalities with post-mortem ultrasound in perinatal death.

G. Gorincour, C. Bartoli, C. Delteil, 2017, Diagnostic and interventional imaging.

Whole body perinatal postmortem CT angiography.

G. Gorincour, C. Bartoli, S. Sigaudy, 2016, Diagnostic and interventional imaging.

Angio-scanner post-mortem périnatal corps entier

G. Gorincour, C. Bartoli, S. Sigaudy, 2015 .

Genotype-phenotype correlation in Costello syndrome: HRAS mutation analysis in 43 cases

W. Reardon, R. Hennekam, H. Cavé, 2005, Journal of Medical Genetics.

Corrigendum: BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus

R. Lewis, N. Katsanis, E. Chouery, 2006, Nature Genetics.

Clinical presentation of PTEN mutations in childhood in the absence of family history of Cowden syndrome.

N. Philip, N. Girard, H. Sobol, 2015, European journal of paediatric neurology.

Tetra‐amelia and lung aplasia syndrome: report of a new family and exclusion of candidate genes

N. Philip, N. Lévy, J. Bonaventure, 2005, Clinical genetics.

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.

Phenotype and genotype analysis of a French cohort of 119 patients with CHARGE syndrome

S. Julia, R. Touraine, A. Toutain, 2017, American journal of medical genetics. Part C, Seminars in medical genetics.

Prenatal findings in children with early postnatal diagnosis of CHARGE syndrome

N. Philip, B. Gilbert-Dussardier, F. Bilan, 2016, Prenatal diagnosis.

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

L. Hoch, Céline Bruge, X. Nissan, 2018, Scientific Reports.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

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

Correspondence on "De novo variants in MED12 cause X-linked syndromic neurodevelopmental disorders in 18 females" by Polla et al.

L. Faivre, S. Gorokhova, J. Amiel, 2021, Genetics in medicine : official journal of the American College of Medical Genetics.

Loss-of-Function Mutations in UNC45A Cause a Syndrome Associating Cholestasis, Diarrhea, Impaired Hearing, and Bone Fragility.

J. Sarles, J. Hugot, N. Katsanis, 2018, American journal of human genetics.

[Segmental approach to congenital heart diseases: Principles and applications to prenatal imaging].

G. Gorincour, P. Gach, M. Bourachot, 2016, Gynecologie, obstetrique & fertilite.

Fetal skeletal computed tomography: when? How? Why?

N. Philip, G. Gorincour, M. Panuel, 2014, Diagnostic and interventional imaging.

Schimke immunoosseous dysplasia: suggestions of genetic diversity

C. Cancrini, C. Boerkoel, J. Ehrich, 2007, Human mutation.

MCA/MR syndrome with hypocholesterolemia related to familial dominant hypobetalipoproteinemia

N. Philip, S. Sigaudy, K. Nguyen, 2003, American journal of medical genetics. Part A.

Complete exon sequencing of all known Usher syndrome genes greatly improves molecular diagnosis

Albert David, Jean Weissenbach, José-Alain Sahel, 2011, Orphanet journal of rare diseases.

[Neonatal presentation of Prader-Willi syndrome: A report of five cases].

S. Sigaudy, C. Leymarie, P. Collignon, 2017, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Hippocampal dysgenesis and variable neuropsychiatric phenotypes in patients with Bardet–Biedl syndrome underline complex CNS impact of primary cilia

J. Dietemann, A. Verloes, S. Kremer, 2011, Clinical genetics.

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

A. Toutain, N. Philip, S. Aymé, 1998, American journal of medical genetics.

Stüve-Wiedemann syndrome and defects of the mitochondrial respiratory chain.

N. Philip, B. Chabrol, S. Sigaudy, 1997, American journal of medical genetics.

Dissection of the MYCN locus in Feingold syndrome and isolated oesophageal atresia

A. Munnich, N. Philip, A. Verloes, 2011, European Journal of Human Genetics.

Osteo-Oto-Hepato-Enteric Syndrome (O2HE) is caused by loss of function mutations in UNC45A

J. Sarles, J. Hugot, N. Katsanis, 2017, bioRxiv.

Dermatological manifestations in Noonan syndrome: a prospective multicentric study of 129 patients positive for mutation

H. Cavé, N. Philip, C. Chiaverini, 2019, The British journal of dermatology.

Novel Exon-Skipping Therapeutic Approach for the DMD Gene Based on Asymptomatic Deletions of Exon 49

N. Philip, N. Lévy, F. Leturcq, 2022, Genes.

Multiple lateral meningoceles, distinctive facies and skeletal anomalies: a new case of Lehman syndrome

N. Philip, M. Choux, A. Moncla, 1995, Clinical dysmorphology.

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

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

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

Jean Muller, O. Poch, N. Katsanis, 2010, Human Genetics.

ALG6-CDG: a recognizable phenotype with epilepsy, proximal muscle weakness, ataxia and behavioral and limb anomalies

G. Matthijs, R. Wevers, C. Thiel, 2016, Journal of Inherited Metabolic Disease.

Schimke immunoosseous dysplasia: defining skeletal features

C. Boerkoel, D. Bonneau, S. Smithson, 2009, European Journal of Pediatrics.

Neuroimaging of Fetal Infection

M. L. Rossi, L. Tychsen, M. Recio, 2017, Journal of Pediatric Neurology.

Dermatological manifestations in cardiofaciocutaneous syndrome: a prospective multicentric study of 45 mutation‐positive patients

H. Cavé, N. Philip, C. Chiaverini, 2018, The British journal of dermatology.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

Nuclear matrix, nuclear envelope and premature aging syndromes in a translational research perspective.

Pierre Cau, Nicolas Lévy, N. Lévy, 2014, Seminars in cell & developmental biology.

Prenatal diagnosis of micrognathia in 41 fetuses: Retrospective analysis of outcome and genetic etiologies

N. Philip, S. Sigaudy, F. Bretelle, 2019, American journal of medical genetics. Part A.

Autosomal recessive primary microcephaly due to ASPM mutations: An update

K. Devriendt, C. Woods, P. Gressens, 2018, Human mutation.

Phenotypic spectrum and genomics of undiagnosed arthrogryposis multiplex congenita

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

MYT1L-associated neurodevelopmental disorder: description of 40 new cases and literature review of clinical and molecular aspects

W. Chung, A. Munnich, B. Menten, 2021, Human Genetics.

SETD2 and DNMT3A screen in the Sotos-like syndrome French cohort

A. Afenjar, E. Pasmant, M. Vidaud, 2016, Journal of Medical Genetics.

Pathological modelling of pigmentation disorders associated with Hutchinson-Gilford Progeria Syndrome (HGPS) revealed an impaired melanogenesis pathway in iPS-derived melanocytes

L. Hoch, X. Nissan, N. Lévy, 2018, Scientific Reports.

Neurodevelopmental phenotype in 36 new patients with 8p inverted duplication–deletion: Genotype–phenotype correlation for anomalies of the corpus callosum

C. Garel, J. Andrieux, B. Delobel, 2021, Clinical genetics.

Cardio-facio-cutaneous and Noonan syndromes due to mutations in the RAS/MAPK signalling pathway: genotype–phenotype relationships and overlap with Costello syndrome

Yoichi Matsubara, Alain Verloes, Alice Goldenberg, 2007, Journal of Medical Genetics.

Severe Phenotype in Patients with Large Deletions of NF1

S. Julia, E. Pasmant, A. Sabbagh, 2021, Cancers.

Natural history of NF1 c.2970_2972del p.(Met992del): confirmation of a low risk of complications in a longitudinal study

E. Haan, S. Mansour, D. Vidaud, 2021, European Journal of Human Genetics.

Incidental findings on array comparative genomic hybridization: detection of carrier females of dystrophinopathy without any family history

S. Julia, N. Philip, M. Till, 2015, Clinical genetics.

Accelerated genome sequencing with controlled costs for infants in intensive care units: a feasibility study in a French hospital network

C. Flamant, A. Toutain, A. Boland, 2021, European Journal of Human Genetics.

CHARGE syndrome: report of 47 cases and review.

J L Michel, A. Munnich, N. Philip, 1998, American 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.

Acrocallosal syndrome in fetus: focus on additional brain abnormalities

C. Fallet-Bianco, D. Figarella-Branger, F. Giuliano, 2007, Acta Neuropathologica.

Coffin-Siris syndrome with multiple congenital malformations and intrauterine death: towards a better delineation of the severe end of the spectrum.

N. Girard, A. Tasei, B. Coulibaly, 2010, European journal of medical genetics.

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.

Whole ARX gene duplication is compatible with normal intellectual development

N. Philip, J. Andrieux, A. Moncla, 2014, American journal of medical genetics. Part A.

Is the locus for Costello syndrome on 11p?

N. Philip, B. Kerr, R. Elles, 2003, Journal of medical genetics.

WDR34 mutations that cause short-rib polydactyly syndrome type III/severe asphyxiating thoracic dysplasia reveal a role for the NF-κB pathway in cilia.

A. Munnich, D. Rimoin, Sulin Wu, 2013, American journal of human genetics.

Prenatal diagnosis of bowel malposition using T2-weighted fetal MRI sequences.

N. Philip, G. Gorincour, B. Guidicelli, 2016, Diagnostic and interventional imaging.

[Isolated late-onset plexiform neurofibroma in the absence of neurofibromatosis].

J. Grob, S. Mallet, M. Richard, 2010, Annales de dermatologie et de venereologie.

Wolf-Hirschhorn (4P-) syndrome in adults.

N. Philip, J. Fryns, F. Beemer, 2001, Genetic counseling.

Prenatal diagnosis of complete nonrotation of fetal bowel with ultrasound and magnetic resonance imaging.

G. Gorincour, P. de Lagausie, S. Sigaudy, 2016, Diagnostic and interventional imaging.

L. Villard, F. Molinari, S. Gorokhova, 2023, Journal of Medical Genetics.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

SATB2-associated syndrome: first report of a gonadal and somatic mosaicism for an intragenic copy number variation.

N. Philip, S. Sigaudy, C. Missirian, 2019, Clinical dysmorphology.

Prenatal diagnosis of Pierre–Robin sequence as part of Stickler syndrome

N. Philip, S. Sigaudy, M. Soulier, 2002, Prenatal diagnosis.

Costello syndrome: report of six patients including one with an embryonal rhabdomyosarcoma

N. Philip, D. Lacombe, A. Moncla, 2000, European Journal of Pediatrics.

Antenatal prognostic factor of fetal echogenic bowel.

N. Philip, A. Loundou, P. de Lagausie, 2017, European journal of obstetrics, gynecology, and reproductive biology.

Oral-facial-digital syndrome with retinal abnormalities: report of a new case.

N. Philip, B. Chabrol, S. Sigaudy, 1996, American journal of medical genetics.

New insights into CC2D2A-related Joubert syndrome

F. Rivier, C. Garel, A. Afenjar, 2022, Journal of Medical Genetics.

[How to deal with a fetal head circumference lower than the third percentile?]

N. Girard, M. Milh, S. Sigaudy, 2017, Gynecologie, obstetrique, fertilite & senologie.

De novo mutations in SMCHD1 cause Bosma arhinia microphthalmia syndrome and abrogate nasal development

Asif Javed, Shifeng Xue, H. Kayserili, 2017, Nature Genetics.

Unusual phenotype with progressive vertebral fusion in a girl with an apparently balanced t(10;20)(p11;p13) translocation

G. Bollini, N. Philip, M. Mattei, 2005, American journal of medical genetics. Part A.

Truncated prelamin A expression in HGPS-like patients: a transcriptional study

R. Wevers, N. Lévy, E. Morava, 2015, European Journal of Human Genetics.

The Renpenning syndrome spectrum: new clinical insights supported by 13 new PQBP1‐mutated males

L. Hertz-Pannier, R. Touraine, F. Giuliano, 2011, Clinical genetics.

Macrocephaly‐cutis marmorata telangiectatica congenita: Seven cases including two with unusual cerebral manifestations

N. Philip, D. Bonneau, F. Giuliano, 2004, American journal of medical genetics. Part A.

Renal and retinal involvement in the Sensenbrenner syndrome.

J. Sarles, N. Philip, M. Tsimaratos, 1998, American journal of medical genetics.

Value of fetal autopsy after medical termination of pregnancy.

D. Figarella-Branger, P. Adalian, S. Sigaudy, 2004, Forensic science international.

The complementary role of imaging modalities in Binder phenotype. Can prognostic factors of neonatal respiratory distress be found?

G. Gorincour, M. Panuel, K. Chaumoitre, 2019, Prenatal diagnosis.

Added value of MRI for the prenatal diagnosis of isolated orofacial clefts and comparison with ultrasound.

G. Gorincour, H. Heckenroth, S. Sigaudy, 2016, Diagnostic and interventional imaging.

10 years of CEMARA database in the AnDDI-Rares network: a unique resource facilitating research and epidemiology in developmental disorders in France

J. Melki, A. Toutain, A. Verloes, 2021, Orphanet Journal of Rare Diseases.

Prenatal diagnosis by trio exome sequencing in fetuses with ultrasound anomalies: A powerful diagnostic tool

C. Rooryck, L. Pasquier, E. Colin, 2023, Frontiers in Genetics.

Relevance of Fetal Brain Magnetic Resonance Imaging Compared to Ultrasound for Detecting Cerebral Anomalies in Fetuses with Cleft Lip and/or Palate: A Cohort Study

N. Girard, K. Chaumoitre, S. Sigaudy, 2023, Fetal Diagnosis and Therapy.

Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects.

I. Gut, M. Bayés, J. Melki, 2014, Human molecular genetics.

Bi-allelic variants in the ESAM tight-junction gene cause a neurodevelopmental disorder associated with fetal intracranial hemorrhage.

J. Lupski, A. Balduini, H. Lochmüller, 2023, American journal of human genetics.

Clinical and Molecular Spectrum of Nonsyndromic Early‐Onset Osteoarthritis

A. Fabre, M. Barat‐Houari, I. Touitou, 2020, Arthritis & rheumatology.

Exome sequencing identifies a novel mutation in PIK3R1 as the cause of SHORT syndrome

V. Quesada, Diana A. Puente, C. López-Otín, 2014, BMC Medical Genetics.

MR imaging of acquired fetal brain disorders

Sylviane Confort-Gouny, Nadine Girard, Charles Raybaud, 2003, Child's Nervous System.

Confirmation of FZD5 implication in a cohort of 50 patients with ocular coloboma

P. Calvas, N. Chassaing, A. Verloes, 2020, European Journal of Human Genetics.

[Post-mortem perinatal imaging: State of the art and perspectives, with an emphasis on ultrasound].

G. Gorincour, P. Petit, B. Bourlière-Najean, 2015, Gynecologie, obstetrique & fertilite.

Bardet-Biedl syndrome: a study of the renal and cardiovascular phenotypes in a French cohort.

H. Dollfus, C. Hamel, M. Holder, 2011, Clinical journal of the American Society of Nephrology : CJASN.

Real-world evidence in achondroplasia: considerations for a standardized data set

M. Maghnie, M. Sessa, M. Irving, 2023, Orphanet Journal of Rare Diseases.

The role of pediatric oncologist in prenatal diagnosis: A 10-year retrospective study at Assistance Publique Hôpitaux de Marseille (AP-HM).

S. Sigaudy, C. D’ercole, F. Bretelle, 2023, Pediatric hematology and oncology.

Microcephalic osteodysplastic primordial dwarfism Taybi-Linder type: report of four cases and review of the literature.

A. Toutain, N. Philip, A. Moncla, 1998, American journal of medical genetics.

GPATCH11 variants cause mis-splicing and early-onset retinal dystrophy with neurological impairment

Karolina, Carlo, N. Boddaert, 2023, medRxiv.

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.

Genetic counselling difficulties and ethical implications of incidental findings from array‐CGH: a 7‐year national survey

S. Julia, A. Afenjar, A. Toutain, 2016, Clinical genetics.

Identification of 28 novel mutations in the Bardet–Biedl syndrome genes: the burden of private mutations in an extensively heterogeneous disease

N. Katsanis, A. Mégarbané, N. Philip, 2010, Human Genetics.

Episignatures in practice: independent evaluation of published episignatures for the molecular diagnostics of ten neurodevelopmental disorders

C. Depienne, O. Guillin, A. Afenjar, 2023, European journal of human genetics : EJHG.

Prenatal findings in cardio‐facio‐cutaneous syndrome

H. Cavé, A. Toutain, N. Philip, 2016, American journal of medical genetics. Part A.

Costello syndrome.

N. Philip, S. Sigaudy, 1998, Journal of medical genetics.