F. Huet

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Use of peritoneal dialysis, continuous arteriovenous hemofiltration, and continuous arteriovenous hemodiafiltration for removal of ammonium chloride and glutamine in rabbits.

J. Gouyon, D. Semama, F. Huet, 1995, The Journal of pediatrics.

17q21.31 microdeletion in a patient with pituitary stalk interruption syndrome.

L. Faivre, C. Thauvin-Robinet, P. Callier, 2011, European journal of medical genetics.

Search for the best indicators for the presence of a VPS13B gene mutation and confirmation of diagnostic criteria in a series of 34 patients genotyped for suspected Cohen syndrome

A. Afenjar, N. Philip, A. Verloes, 2010, Journal of Medical Genetics.

Resistance to leptin-replacement therapy in Berardinelli-Seip congenital lipodystrophy: an immunological origin.

G. Sebag, P. Gressens, M. Polak, 2010, European journal of endocrinology.

Genotype-phenotype relationships in Berardinelli-Seip congenital lipodystrophy

S. O’Rahilly, M. Lathrop, A. Mégarbané, 2002, Journal of medical 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.

Newborn screening programmes including genetic analyses: limits and risks of negative consequences?

C. Thauvin-Robinet, E. Girodon, A. Munck, 2010, Journal of Epidemiology & Community Health.

The very low penetrance of cystic fibrosis for the R117H mutation: a reappraisal for genetic counselling and newborn screening

E. Génin, C. Clavel, S. Leroy, 2009, Journal of Medical Genetics.

Severe Respiratory Syncytial Virus Bronchiolitis: Epidemiologic Variations Associated With the Initiation of Palivizumab in Severely Premature Infants With Bronchopulmonary Dysplasia

J. Gouyon, F. Huet, M. Grimaldi, 2004, The Pediatric infectious disease journal.

Clinical and Molecular Study of 320 Children With Marfan Syndrome and Related Type I Fibrillinopathies in a Series of 1009 Probands With Pathogenic FBN1 Mutations

P. Robinson, E. Arbustini, U. Francke, 2009, Pediatrics.

Congenital neutropenia with retinopathy, a new phenotype without intellectual deficiency or obesity secondary to VPS13B mutations

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2014, American journal of medical genetics. Part A.

The power of high-resolution non-targeted array-CGH in identifying intragenic rearrangements responsible for Cohen syndrome

P. Rump, L. Faivre, C. Thauvin-Robinet, 2011, Journal of Medical Genetics.

The DYRK1A gene is a cause of syndromic intellectual disability with severe microcephaly and epilepsy

J. Thevenon, L. Faivre, C. Philippe, 2012, Journal of Medical Genetics.

Measurement of nasal potential difference in young children with an equivocal sweat test following newborn screening for cystic fibrosis

C. Thauvin-Robinet, I. Sermet-Gaudelus, I. Fajac, 2010, Thorax.

Renal insufficiency, a frequent complication with age in oral‐facial‐digital syndrome type I

A. Toutain, P. Jouk, L. Faivre, 2010, Clinical Genetics.

Self-controlled case series and misclassification bias induced by case selection from administrative hospital databases: application to febrile convulsions in pediatric vaccine pharmacoepidemiology.

C. Farrington, P. Tubert-Bitter, E. Benzenine, 2013, American journal of epidemiology.

[Results of early growth hormone treatment in children with hypopituitarism].

M. Polak, J. Carel, F. Huet, 2012, Bulletin de l'Academie nationale de medecine.

The pituitary stalk interruption syndrome: endocrine features and benefits of growth hormone therapy.

F. Huet, S. El Chehadeh, C. Bensignor, 2010, Annales d'endocrinologie.

Diagnostic odyssey in severe neurodevelopmental disorders: toward clinical whole‐exome sequencing as a first‐line diagnostic test

J. Rivière, J. Thevenon, L. Faivre, 2016, Clinical genetics.

Association of Marfan's Syndrome and Turner's Syndrome

C. Thauvin-Robinet, F. Huet, A. Nivelon-Chevallier, 2001, Journal of pediatric endocrinology & metabolism : JPEM.

Intragenic FMR1 disease-causing variants: a significant mutational mechanism leading to Fragile-X syndrome

J. Mandel, B. Gilbert-Dussardier, J. Thevenon, 2017, European Journal of Human Genetics.

Partly Fermented Infant Formulae With Specific Oligosaccharides Support Adequate Infant Growth and Are Well-Tolerated

S. Tims, U. Simeoni, M. Abrahamse-Berkeveld, 2016, Journal of pediatric gastroenterology and nutrition.

Heterozygous deletion of the LRFN2 gene is associated with working memory deficits

R. Petralia, E. Guedj, J. Thevenon, 2015, European Journal of Human Genetics.

AGER -429T/C Is Associated with an Increased Lung Disease Severity in Cystic Fibrosis

P. Böelle, P. Reix, J. Dalphin, 2012, PloS one.

Expanding the Phenotype Associated with NAA10‐Related N‐Terminal Acetylation Deficiency

T. Arnesen, J. Rivière, G. Mancini, 2016, Human mutation.

Lung disease associated with periventricular nodular heterotopia and an FLNA mutation.

E. Haan, S. Robertson, L. Faivre, 2011, European journal of medical genetics.

Growth during puberty in cystic fibrosis: a retrospective evaluation of a French cohort

G. Bellis, F. Huet, M. Bournez, 2012, Archives of Disease in Childhood.

Epidemiological and clinical features of hMPV, RSV and RVs infections in young children.

P. Pothier, S. Aho, F. Huet, 2007, Journal of clinical virology : the official publication of the Pan American Society for Clinical Virology.

Costs of community-acquired pediatric rotavirus gastroenteritis in 7 European countries: the REVEAL Study.

C. Giaquinto, P. van Damme, F. Huet, 2007, The Journal of infectious diseases.

Burden of paediatric rotavirus gastroenteritis and potential benefits of a universal rotavirus vaccination programme with RotaTeq in France.

F. Huet, G. Jasso-Mosqueda, M. Trichard, 2007, Vaccine.

Long-term results of GH therapy in GH-deficient children treated before 1 year of age.

J. Carel, J. Chaussain, F. Huet, 1999, European journal of endocrinology.

Variable expressivity of the clinical and biochemical phenotype associated with the apolipoprotein E p.Leu149del mutation

T. Frebourg, L. Faivre, P. Gambert, 2005, European Journal of Human Genetics.

Toward the Standardization of Mycological Examination of Sputum Samples in Cystic Fibrosis: Results from a French Multicenter Prospective Study

S. Leroy, A. Duhamel, G. Gargala, 2018, Mycopathologia.

Studying Clinical, Biologic and Echocardiography Criteria to Predict a Resistant Kawasaki Disease in Children

G. Thiriez, F. Huet, R. Anxionnat, 2021, The Pediatric infectious disease journal.

Delineation of the 3p14.1p13 microdeletion associated with syndromic distal limb contractures

S. Vokes, P. Jouk, J. Thevenon, 2014, American journal of medical genetics. Part A.

Spondylocostal dysostosis, anal and genitourinary malformations in a fetal case: a new case of Casamassima-Morton-Nance syndrome?

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2007, European journal of medical genetics.

Efficacy and Tolerance of Infliximab in Children and Adolescents with Crohn’s Disease

J. Sarles, D. Turck, O. Goulet, 2004, Inflammatory bowel diseases.

Chest physiotherapy enhances detection of Pseudomonas aeruginosa in nonexpectorating children with cystic fibrosis

P. Reix, I. Pin, C. Marguet, 2021, ERJ Open Research.

Search for a gene responsible for Floating‐Harbor syndrome on chromosome 12q15q21.1

D. Lacombe, L. Faivre, C. Thauvin-Robinet, 2012, American journal of medical genetics. Part A.

Search for genomic imbalances in a cohort of 20 patients with oral–facial–digital syndromes negative for mutations and large rearrangements in the OFD1 gene

L. Faivre, C. Thauvin-Robinet, B. Franco, 2009, American journal of medical genetics. Part A.

Severe neonatal non‐dystrophic myotonia secondary to a novel mutation of the voltage‐gated sodium channel (SCN4A) gene

L. Faivre, C. Thauvin-Robinet, B. Hainque, 2008, American journal of medical genetics. Part A.

Another observation with VATER association and a complex IV respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 2006, European journal of medical genetics.

Should chromosome breakage studies be performed in patients with VACTERL association?

C. Mathew, G. Pals, D. Stoppa-Lyonnet, 2005, American journal of medical genetics. Part A.

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.

CFTR p.Arg117His associated with CBAVD and other CFTR-related disorders

A. Valéri, C. Clavel, G. Karsenty, 2013, Journal of Medical Genetics.

Nasal potential difference in cystic fibrosis diagnosis of very young children.

I. Sermet-Gaudelus, E. Girodon, G. Lenoir, 2007, The Journal of pediatrics.

The CF-CIRC study: a French collaborative study to assess the accuracy of Cystic Fibrosis diagnosis in neonatal screening

P. Reix, G. Bellon, I. Sermet-Gaudelus, 2006, BMC pediatrics.

Array‐CGH in a series of 30 patients with mental retardation, dysmorphic features, and congenital malformations detected an interstitial 1p22.2‐p31.1 deletion in a patient with features overlapping the Goldenhar syndrome

L. Faivre, C. Thauvin-Robinet, P. D'Athis, 2008, American Journal of Medical Genetics. Part A.

Autosomal recessive truncating MAB21L1 mutation associated with a syndromic scrotal agenesis

J. Rivière, J. Deleuze, J. Thevenon, 2017, Clinical genetics.

3q27.3 microdeletional syndrome: a recognisable clinical entity associating dysmorphic features, marfanoid habitus, intellectual disability and psychosis with mood disorder

B. Menten, Z. Tümer, J. Thevenon, 2013, Journal of Medical Genetics.

CHANGES IN REVERSE TRANSCRIPTION POLYMERASE CHAIN REACTION-POSITIVE SEVERE ACUTE RESPIRATORY SYNDROME CORONAVIRUS 2 RATES IN ADULTS AND CHILDREN ACCORDING TO THE EPIDEMIC STAGES.

R. Basmaci, R. Cohen, F. Huet, 2020, The Pediatric infectious disease journal.

Changes in RT-PCR-positive SARS-CoV-2 rates in adults and children according to the epidemic stages

R. Basmaci, R. Cohen, F. Huet, 2020, medRxiv.

[Evaluation of a formula with low protein content and supplemented with probiotic agents after breast milk weaning].

M. Sznajder, F. Huet, L. Van Egroo, 2006, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Treatment of Growth Hormone Deficiency in Very Young Children

J. Carel, J. Chaussain, F. Huet, 2003, Hormone Research in Paediatrics.

Homozygous SMN1 exons 1–6 deletion: Pitfalls in genetic counseling and general recommendations for spinal muscular atrophy molecular diagnosis

M. Cossée, L. Faivre, B. Gérard, 2012, American journal of medical genetics. Part A.

Human metapneumovirus genotypes and severity of disease in young children (n = 100) during a 7‐year study in Dijon hospital, France†

P. Pothier, S. Aho, F. Huet, 2010, Journal of medical virology.

[Genetic testing in asymptomatic minors: a survey among French geneticists].

A. Dürr, L. Faivre, C. Thauvin-Robinet, 2010, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Systematic search for neutropenia should be part of the first screening in patients with poikiloderma.

K. Macdermot, A. Toutain, L. Faivre, 2012, European journal of medical genetics.

Genomic deletions of OFD1 account for 23% of oral‐facial‐digital type 1 syndrome after negative DNA sequencing

T. Frebourg, L. Faivre, C. Thauvin-Robinet, 2009, Human mutation.

Cytogenetic and array‐CGH characterization of a 6q27 deletion in a patient with developmental delay and features of Ehlers–Danlos syndrome

A. De Paepe, L. Faivre, C. Thauvin-Robinet, 2010, American journal of medical genetics. Part A.

Angelman Syndrome: A Case Series Assessing Neurological Issues in Adulthood

Y. Béjot, M. Giroud, L. Faivre, 2014, European Neurology.

Carriage of a single strain of non-toxigenic Corynebacterium diphtheriae biovar Belfanti (Corynebacterium belfantii) in four patients with cystic fibrosis

S. Brisse, A. Criscuolo, K. Astruc, 2019, bioRxiv.

Real-Life Safety and Effectiveness of Lumacaftor-Ivacaftor in Patients with Cystic Fibrosis.

D. Caimmi, A. Didier, S. Leroy, 2020, American journal of respiratory and critical care medicine.

Written information to patients in clinical genetics: what's the impact?

S. Mercier, L. Faivre, C. Thauvin-Robinet, 2011, European journal of medical genetics.

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

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

What do French patients and geneticists think about prenatal and preimplantation diagnoses in Marfan syndrome?

G. Jondeau, J. Thevenon, L. Faivre, 2012, Prenatal diagnosis.

Infantile systemic hyalinosis: a case with atypical prolonged survival

L. Faivre, C. Thauvin-Robinet, F. Huet, 2001, Acta paediatrica.

Factors associated with mucoid transition of Pseudomonas aeruginosa in cystic fibrosis patients.

K. Astruc, F. Huet, A. Fanton, 2010, Clinical Microbiology and Infection.

Clinical severity and molecular characteristics of circulating and emerging rotaviruses in young children attending hospital emergency departments in France.

P. Pothier, J. Stéphan, A. de Rougemont, 2016, Clinical microbiology and infection : the official publication of the European Society of Clinical Microbiology and Infectious Diseases.

Complementary effects of adenosine and angiotensin II in hypoxemia-induced renal dysfunction in the rabbit.

J. Gouyon, D. Semama, F. Huet, 2002, Life sciences.

Protective Effect of Perindoprilat in the Hypoxemia-Induced Renal Dysfunction in the Newborn Rabbit

J. Gouyon, D. Semama, F. Huet, 1999, Pediatric Research.

Prevention of hypoxemia-induced renal dysfunction by perindoprilat in the rabbit.

J. Gouyon, F. Huet, J. Guignard, 1997, Life sciences.

Clinical reappraisal of SHORT syndrome with PIK3R1 mutations: toward recommendation for molecular testing and management

C. Fagour, P. Njølstad, J. Bernstein, 2016, Clinical genetics.

Recurrence of SOX2 anophthalmia syndrome with gonosomal mosaicism in a phenotypically normal mother

C. Hayward, D. Fitzpatrick, L. Faivre, 2006, American journal of medical genetics. Part A.

20 ans après: a second mutation in MAOA identified by targeted high-throughput sequencing in a family with altered behavior and cognition

Claire Redin, Jean Muller, Laurence Faivre, 2013, European Journal of Human Genetics.

Polymicrogyria, cerebellar vermis hypoplasia, severe facial dysmorphism and cleft palate: a new syndrome?

L. Faivre, C. Thauvin-Robinet, J. Gouyon, 2007, European journal of medical genetics.

Tubulopathy and pancytopaenia with normal pancreatic function: a variant of Pearson syndrome.

A. Fischer, A. Munnich, A. Rötig, 2009, European journal of medical genetics.

C5orf42 is the major gene responsible for OFD syndrome type VI

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

Urea removal by hemofiltration and hemodiafiltration.

F. Huet, C. Lallemant, J. Gouyon, 1994, Biology of the neonate.

Pediatric veno-venous hemofiltration.

D. Semama, F. Huet, J. Gouyon, 1995, Critical care medicine.

Prenatal overgrowth and mosaic trisomy 15q25‐qter including the IGF1 receptor gene

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2004, Prenatal diagnosis.

Les consultations post-adoption

F. Huet, J. Monléon, G. Couillault, 2003 .

Chronic Intestinal Pseudoobstruction Syndrome Clinical Analysis, Outcome, and Prognosis in 105 Children

J. Baudon, P. Tounian, O. Goulet, 1999, Digestive Diseases and Sciences.

Low mannose-binding lectin concentration is associated with severe infection in patients with hematological cancer who are undergoing chemotherapy.

M. Paesmans, T. Calandra, M. Vekemans, 2007, Clinical infectious diseases : an official publication of the Infectious Diseases Society of America.

Polymicrogyria in a child with inv dup del(9p) and 22q11.2 microduplication

L. Faivre, C. Thauvin-Robinet, P. Callier, 2009, American journal of medical genetics. Part A.

Loss of Function Mutation in the Palmitoyl-Transferase HHAT Leads to Syndromic 46,XY Disorder of Sex Development by Impeding Hedgehog Protein Palmitoylation and Signaling

S. Antonarakis, M. Resh, B. Conne, 2014, PLoS genetics.

Disruption of a long distance regulatory region upstream of SOX9 in isolated disorders of sex development

A. Munnich, A. Molven, O. Bruland, 2011, Journal of Medical Genetics.

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

Further delineation of eye manifestations in homozygous 15q13.3 microdeletions including TRPM1: A differential diagnosis of ceroid lipofuscinosis

L. Vallée, J. Thevenon, L. Faivre, 2014, American journal of medical genetics. Part A.

Delineation of 15q13.3 microdeletions

M. Holder, L. Vallée, B. Gilbert-Dussardier, 2010, Clinical genetics.

Mutations in SLC 13 A 5 Cause Autosomal-Recessive Epileptic Encephalopathy with Seizure Onset in the First Days of Life

Anne de Saint Martin, A. Toutain, J. Rivière, 2017 .

9q33.3q34.11 microdeletion: new contiguous gene syndrome encompassing STXBP1, LMX1B and ENG genes assessed using reverse phenotyping

V. Dulieu, P. Jouk, C. Rooryck, 2015, European Journal of Human Genetics.

An Improved Method to Extract DNA from 1 ml of Uncultured Amniotic Fluid from Patients at Less than 16 Weeks’ Gestation

J. Thevenon, L. Faivre, C. Thauvin-Robinet, 2013, PloS one.

Application of whole‐exome sequencing to unravel the molecular basis of undiagnosed syndromic congenital neutropenia with intellectual disability

J. Melki, J. Rivière, J. Thevenon, 2017, American journal of medical genetics. Part A.

Systematic molecular and cytogenetic screening of 100 patients with marfanoid syndromes and intellectual disability

C Binquet, A. Mégarbané, A. Toutain, 2013, Clinical genetics.

Management of pancreatic, gastrointestinal and liver complications in adult cystic fibrosis.

A. Munck, F. Huet, M. Abély, 2015, Revue des maladies respiratoires.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

Patrick Callier, Laurence Faivre, Christel Thauvin-Robinet, 2013, American journal of human genetics.

Multiple cysts of the corpus callosum and psychomotor delay in a patient with a 3.1 Mb 15q24.1q24.2 interstitial deletion identified by array‐CGH

M. Giroud, L. Faivre, C. Thauvin-Robinet, 2009, American journal of medical genetics. Part A.

GLI3 is rarely implicated in OFD syndromes with midline abnormalities

L. Pasquier, J. Thevenon, L. Faivre, 2011, Human mutation.

Cerebral dysgenesis does not exclude OFD I syndrome

L. Faivre, C. Thauvin-Robinet, B. Franco, 2011, American journal of medical genetics. Part A.

Syndromic encephalocele in a fetal case with a 1p35‐pter deletion and a 14q32‐qter duplication inherited from a maternal balanced translocation

L. Faivre, C. Thauvin-Robinet, P. Sagot, 2007, Prenatal diagnosis.

Unexpected substitution of dominant rotavirus G genotypes in French hospitalized children over five consecutive seasons

P. Pothier, P. Lebon, F. Huet, 2009, European Journal of Clinical Microbiology & Infectious Diseases.

[Prospective epidemiological study of rotavirus gastroenteritis in Europe (REVEAL study). Results in the French area of the study].

P. Pothier, F. Allaert, F. Huet, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Randomised controlled trial demonstrates that fermented infant formula with short‐chain galacto‐oligosaccharides and long‐chain fructo‐oligosaccharides reduces the incidence of infantile colic

T. Ludwig, Y. Vandenplas, F. Huet, 2017, Acta paediatrica.

Effects of theophylline on renal insufficiency in neonates with respiratory distress syndrome

J. Gouyon, D. Semama, F. Huet, 1995, Intensive Care Medicine.

Detection of an interstitial 3q21.1‐q21.3 deletion in a child with multiple congenital abnormalities, mental retardation, pancytopenia, and myelodysplasia

L. Faivre, C. Thauvin-Robinet, P. D'Athis, 2009, American journal of medical genetics. Part A.

Reducing diagnostic turnaround times of exome sequencing for families requiring timely diagnoses.

J. Rivière, J. Thevenon, L. Faivre, 2017, European journal of medical genetics.

Cloacal exstrophy in an infant with 9q34.1‐qter deletion resulting from a de novo unbalanced translocation between chromosome 9q and Yq

L. Faivre, M. Fellous, C. Thauvin-Robinet, 2004, American journal of medical genetics. Part A.

Detailed clinical, genetic and neuroimaging characterization of OFD VI syndrome.

D. Lacombe, L. Pasquier, M. Gonzalès, 2013, European journal of medical genetics.

Hepatitis-associated Aplastic Anemia

T. Leblanc, F. Huet, F. Lacaille, 2022, Journal of pediatric gastroenterology and nutrition.

A new family with an SLC9A6 mutation expanding the phenotypic spectrum of Christianson syndrome

N. Philip, J. Mandel, J. Thevenon, 2016, American journal of medical genetics. Part A.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.

De novo 15q21.1q21.2 deletion identified through FBN1 MLPA and refined by 244K array-CGH in a female teenager with incomplete Marfan syndrome.

V. Dulieu, G. Jondeau, M. Claustres, 2010, European journal of medical genetics.

[Stroke in neonates and children].

Y. Béjot, M. Giroud, J. Gouyon, 2009, Revue neurologique (Paris).

Gastric outlet obstruction by an antral mucosal diaphragm: a case of a congenital anomaly revealed by an acquired disease.

F. Huet, E. Sapin, J. Borgnon, 2003, European journal of pediatric surgery : official journal of Austrian Association of Pediatric Surgery ... [et al] = Zeitschrift fur Kinderchirurgie.

Clinical, molecular, and genotype–phenotype correlation studies from 25 cases of oral–facial–digital syndrome type 1: a French and Belgian collaborative study

G. Mortier, A. Toutain, M. Cossée, 2005, Journal of Medical Genetics.

Multicenter prospective study of the burden of rotavirus acute gastroenteritis in Europe, 2004-2005: the REVEAL study.

C. Giaquinto, P. van Damme, F. Huet, 2007, The Journal of infectious diseases.

Clinical consequences of rotavirus acute gastroenteritis in Europe, 2004-2005: the REVEAL study.

C. Giaquinto, P. van Damme, F. Huet, 2007, The Journal of infectious diseases.

Diversity of the clinical presentation of the MMR gene biallelic mutations

T. Frebourg, S. Vasseur, E. Bouvignies, 2014, Familial Cancer.

Compassionate use of everolimus for refractory epilepsy in a patient with MTOR mosaic mutation.

J. Rivière, L. Faivre, C. Thauvin-Robinet, 2020, European journal of medical genetics.

Pathology of Rotavirus-driven Multiple Organ Failure in a 16-month-old Boy.

A. de Rougemont, G. Belliot, P. Callier, 2019, The Pediatric infectious disease journal.

Hypochondroplasia and stature within normal limits: Another family with an Asn540Ser mutation in the fibroblast growth factor receptor 3 gene

L. Faivre, J. Bonaventure, C. Thauvin-Robinet, 2003, American journal of medical genetics. Part A.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

A. Toutain, N. Philip, R. Salomon, 2013, The Journal of pediatrics.

Associations between cognitive performance and the rehabilitation, medical care and social support provided to French children with Prader-Willi syndrome.

N. Philip, A. Verloes, C. Lejeune, 2020, European journal of medical genetics.

Additional evidence to support the role of the 20q13.33 region in susceptibility to autism

Nathalie Lagarde, L. Faivre, P. Jonveaux, 2013, American journal of medical genetics. Part A.

Les dilatations œsophagiennes en pédiatrie: étude de 33 patients

F. Huet, T. Saleh, JF Mougenot, 1995 .

In-frame mutations in exon 1 of SKI cause dominant Shprintzen-Goldberg syndrome.

P. Robinson, E. Arbustini, C. Béroud, 2012, American journal of human genetics.

Impact of community-acquired paediatric rotavirus gastroenteritis on family life: data from the REVEAL study

C. Giaquinto, P. van Damme, M. Littmann, 2010, BMC family practice.

[Economic evaluation of acute paediatric rotavirus gastroenteritis in France].

F. Allaert, F. Huet, M. Trichard, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24).

L. Faivre, C. Thauvin-Robinet, G. Malka, 2007, European journal of medical genetics.

Clinical phenotype and genotype of children with borderline sweat test and abnormal nasal epithelial chloride transport.

Milan Macek, Gérard Lenoir, J. Sarles, 2010, American journal of respiratory and critical care medicine.

VEB-1 in Achromobacter xylosoxidans from Cystic Fibrosis Patient, France

A. Péchinot, F. Huet, E. Siebor, 2006, Emerging infectious diseases.

Vaccination, information et manipulation

F. Huet, J. Monléon, G. Couillault, 2000 .

In Vitro Synergistic Activity of Combined Piperacillin and Tobramycin Against Clinical Strains of Achromobacter xylosoxidans

A. Péchinot, K. Astruc, F. Huet, 2010, Journal of chemotherapy.

A new cohort of MECP2 mutation screening in unexplained mental retardation: Careful re‐evaluation is the best indicator for molecular diagnosis

V. Dulieu, L. Faivre, C. Thauvin-Robinet, 2006, American journal of medical genetics. Part A.

Excess of de novo variants in genes involved in chromatin remodelling in patients with marfanoid habitus and intellectual disability

B. O’Roak, A. Munnich, G. Jondeau, 2020, Journal of Medical Genetics.

Changing facial phenotype in Cohen syndrome: towards clues for an earlier diagnosis

P. Rump, E. Blair, L. Faivre, 2012, European Journal of Human Genetics.

Effects of cisapride on QTc interval in neonates

J. Gouyon, D. Semama, F. Huet, 1997, Archives of disease in childhood. Fetal and neonatal edition.

Contribution of three‐dimensional computed tomography in prenatal diagnosis of lethal infantile cortical hyperostosis (Caffey disease)

L. Faivre, C. Thauvin-Robinet, V. Cormier-Daire, 2009, Prenatal diagnosis.

Metabolic Correction Induced by Leptin Replacement Treatment in Young Children With Berardinelli-Seip Congenital Lipoatrophy

G. Sebag, M. Polak, C. Levy-marchal, 2007, Pediatrics.

Severe lactic acidosis and acute thiamin deficiency: A report of 11 neonates with unsupplemented total parenteral nutrition

L. Faivre, C. Thauvin-Robinet, J. Saudubray, 2004, Journal of Inherited Metabolic Disease.

Two cases of terminal deletion of chromosome 13: clinical features, conventional and molecular cytogenetic analysis.

I. Luquet, F. Huet, F. Mugneret, 1999, Annales de genetique.

Expanding the clinical phenotype of patients with a ZDHHC9 mutation

J. Thevenon, V. Kalscheuer, L. Faivre, 2014, American Journal of Medical Genetics. Part A.

[Severe delayed apnea in neonates and Prader-Willi syndrome: 2 case studies].

J. Gouyon, F. Huet, G. Diene, 2009, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Clinical spectrum of eye malformations in four patients with Mowat–Wilson syndrome

C. Creuzot-Garcher, J. Thevenon, S. Lyonnet, 2015, American journal of medical genetics. Part A.

Unexpected diagnosis of a SHH nonsense variant causing a variable phenotype ranging from familial coloboma and Intellectual disability to isolated microcephaly

J. Rivière, J. Thevenon, L. Faivre, 2018, Clinical genetics.

A new osteochondrodysplasia with severe osteopenia, preaxial polydactyly, clefting and dysmorphic features resembling filamin‐related disorders

S. Robertson, L. Faivre, C. Thauvin-Robinet, 2006, Prenatal diagnosis.

Carriage of a Single Strain of Nontoxigenic Corynebacterium diphtheriae bv. Belfanti (Corynebacterium belfantii) in Four Patients with Cystic Fibrosis

S. Brisse, A. Criscuolo, K. Astruc, 2019, Journal of Clinical Microbiology.

Major feeding difficulties in the first reported case of interstitial 20q11.22‐q12 microdeletion and molecular cytogenetic characterization

L. Faivre, C. Thauvin-Robinet, M. Prieur, 2006, American journal of medical genetics. Part A.

Vitamin A deficiency and nocturnal vision in teenagers with cystic fibrosis

D. Semama, F. Huet, J. Nivelon, 1997, European Journal of Pediatrics.

Palivizumab efficacy in preterm infants with gestational age ≤30 weeks without bronchopulmonary dysplasia

P. Sagot, C. Quantin, J. Gouyon, 2007, Pediatric pulmonology.

O-174 The Combination Of Scgos/lcfos With Fermented Infant Formula Reduces The Incidence Of Colic In 4 Week Old Infants

T. Ludwig, Y. Vandenplas, F. Huet, 2014, Archives of Disease in Childhood.

De Novo 21q22.1q22.2 deletion including RUNX1 mimicking a congenital infection

J. Thevenon, L. Faivre, P. Jonveaux, 2011, American journal of medical genetics. Part A.

Subhepatic neonatal appendicitis in premature babies: First case detected by ultrasound.

M. Di Maio, J. Beregi, F. Huet, 2015, Diagnostic and interventional imaging.

[Newborn screening for cystic fibrosis in France].

M. Audrézet, A. Munck, D. Cheillan, 2021, Medecine sciences : M/S.

Long‐term follow‐up of 64 children with classical infantile‐onset Pompe disease since 2004: A French real‐life observational study

F. Rivier, J. Lefranc, G. Touati, 2023, European journal of neurology.

A new water-soluble oral vitamin E formulation in cystic fibrosis (CF) children

D. Turck, A. Munck, F. Huet, 2010 .

Clinical and molecular study of 320 children with Marfan syndrome and related type I fibrillinopathies in a series of 1009 probands with pathogenic FBN 1 mutations

P. Robinson, D. Halliday, C. Béroud, 2019 .

Adoption internationale et culture

F. Huet, C. Cremillieux, J. Monléon, 2005 .

C5orf42 is the major gene responsible for OFD syndrome type VI

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

Mutations in SLC13A5 cause autosomal-recessive epileptic encephalopathy with seizure onset in the first days of life.

A. Toutain, J. Rivière, J. Thevenon, 2014, American journal of human genetics.

The oral-facial-digital syndrome gene C2CD3 encodes a positive regulator of centriole elongation

A. Munnich, J. García-Verdugo, A. Mégarbané, 2014, Nature Genetics.