M. le Merrer

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Mainzer-Saldino syndrome is a ciliopathy caused by IFT140 mutations.

A. Munnich, C. Orssaud, S. Hanein, 2012, American journal of human genetics.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

A. Smahi, C. Bodemer, A. Munnich, 2011, Human mutation.

Lamin A Truncation in Hutchinson-Gilford Progeria

Pierre Cau, Arnold Munnich, Colin L. Stewart, 2003, Science.

Three novel mutations in the ANK membrane protein cause craniometaphyseal dysplasia with variable conductive hearing loss

F. Garaci, F. Brancati, B. Dallapiccola, 2010, American journal of medical genetics. Part A.

Phenotype–genotype correlations in 17 new patients with an Xp11.23p11.22 microduplication and review of the literature

E. Bourel-ponchel, C. Rooryck, D. Lacombe, 2015, American journal of medical genetics. Part A.

Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome.

A. Munnich, M. Gonzalès, M. Gubler, 2005, American journal of human genetics.

Progressive polyepiphyseal dysplasia with arthropathy: A distinct disorder from idiopathic juvenile arthritis and pseudorheumatoid dysplasia?

C. Le Caignec, B. Isidor, B. Bader-Meunier, 2012, American Journal of Medical Genetics. Part A.

Mutation‐based growth charts for SEDC and other COL2A1 related dysplasias

R. Hennekam, E. Tobias, G. Mortier, 2012, American journal of medical genetics. Part C, Seminars in medical genetics.

A new osteogenesis imperfecta with improvement over time maps to 11q

A. Munnich, S. Pannier, V. Cormier-Daire, 2008, American journal of medical genetics. Part A.

Three new cases of the Schinzel-Giedion syndrome and review of the literature.

S. Lyonnet, M. le Merrer, V. Zupan, 1994, American journal of medical genetics.

Specific osseous spurs in a lethal form of hypophosphatasia correlated with 3D prenatal ultrasonographic images

M. Gerard-Blanluet, F. Encha-Razavi, M. le Merrer, 2007, Prenatal diagnosis.

Exome sequencing identifies PDE4D mutations as another cause of acrodysostosis.

Arnold Munnich, Patrick Nitschke, Alice Goldenberg, 2012, American journal of human genetics.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Ellis-Van Creveld syndrome

M. le Merrer, G. Baujat, 2007, Orphanet journal of rare diseases.

Mutations in a novel gene Dymeclin (FLJ20071) are responsible for Dyggve-Melchior-Clausen syndrome.

A. Munnich, R. Trembath, A. Verloes, 2003, Human molecular genetics.

Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients.

D. Rénier, M. le Merrer, M. Merrer, 1998, American journal of medical genetics.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients.

M. Polak, V. Cormier-Daire, M. le Merrer, 2014, European journal of endocrinology.

Efficacy and Safety of Growth Hormone Treatment in Children with Hypochondroplasia: Comparison with an Historical Cohort

M. Polak, G. Pinto, J. Souberbielle, 2014, Hormone Research in Paediatrics.

Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature.

M. Polak, J. Souberbielle, V. Cormier-Daire, 2014, European journal of endocrinology.

In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome

A. Munnich, R. Gorlin, G. Collod-Béroud, 2003, Journal of medical genetics.

Paradoxical NSD1 mutations in Beckwith-Wiedemann syndrome and 11p15 anomalies in Sotos syndrome.

A. Munnich, S. Lyonnet, C. Gicquel, 2004, American journal of human genetics.

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

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

Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures.

A. Munnich, R. Touraine, A. Toutain, 2001, American journal of human genetics.

A novel parathyroid hormone (PTH)/PTH-related peptide receptor mutation in Jansen's metaphyseal chondrodysplasia.

H. Jüppner, C. Langman, E. Schipani, 1999, The Journal of clinical endocrinology and metabolism.

Molecular cytogenetic analysis of five 2q37 deletions: refining the brachydactyly candidate region.

S. Romana, M. Vekemans, M. Prieur, 2006, European journal of medical genetics.

Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation

A. Munnich, S. Lyonnet, M. Vekemans, 2002, Journal of medical genetics.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.

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.

Animal models of osteogenesis imperfecta and related syndromes

M. le Merrer, Agnès S Kamoun-Goldrat, 2007, Journal of Bone and Mineral Metabolism.

Identification of CANT1 mutations in Desbuquois dysplasia.

A. Munnich, S. Robertson, G. Mortier, 2009, American journal of human genetics.

Further Delineation of CANT1 Phenotypic Spectrum and Demonstration of Its Role in Proteoglycan Synthesis

D. Sillence, A. Munnich, J. Clayton-Smith, 2012, Human mutation.

Generalized arterial calcification of infancy and pseudoxanthoma elasticum can be caused by mutations in either ENPP1 or ABCC6.

M. McCulloch, R. Terkeltaub, N. Chassaing, 2012, American journal of human genetics.

Osteopathia striata cranial sclerosis: non-random X-inactivation suggestive of X-linked dominant inheritance.

A. Munnich, D. Lacombe, S. Lyonnet, 2002, American journal of medical genetics.

Acro‐osteolysis, keloid like‐lesions, distinctive facial features, and overgrowth: Two newly recognized patients with premature aging syndrome, penttinen type

C. Bodemer, S. Hadj-Rabia, V. Cormier-Daire, 2013, American journal of medical genetics. Part A.

Mutations in STAT3 and IL12RB1 impair the development of human IL-17–producing T cells

A. Fischer, J. Casanova, C. Picard, 2008, The Journal of experimental medicine.

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.

Novel recurrent nonsense mutation causing neurofibromatosis type 1 (NF1) in a family segregating both NF1 and Noonan syndrome.

M. Vidaud, C. Houdayer, D. Vidaud, 1998, American journal of medical genetics.

Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families

A. Munnich, C. Farra, A. Verloes, 2009, Journal of Medical Genetics.

IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies.

M. Kay, E. McCabe, E. Vilain, 1999, The Journal of clinical endocrinology and metabolism.

Sulphate transporter gene mutations in apparently isolated club foot

A. Munnich, V. Cormier-Daire, S. Odent, 2001, Journal of Medical Genetics.

Clinical and genetic heterogeneity in Desbuquois dysplasia

A. Munnich, K. Zerres, L. Faivre, 2004, American journal of medical genetics. Part A.

A study of the clinical and radiological features in a cohort of 93 patients with a COL2A1 mutation causing spondyloepiphyseal dysplasia congenita or a related phenotype

A. Green, E. Bongers, R. Hennekam, 2015, American journal of medical genetics. Part A.

Pseudoachondroplasia and Multiple Epiphyseal Dysplasia: A 7-Year Comprehensive Analysis of the Known Disease Genes Identify Novel and Recurrent Mutations and Provides an Accurate Assessment of Their Relative Contribution

G. Mortier, A. Offiah, Jacqueline A Taylor, 2011, Human mutation.

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.

Retrospective French nationwide survey of childhood aggressive vascular anomalies of bone, 1988-2009

Y. Révillon, I. Pin, L. Boccon-Gibod, 2010, Orphanet journal of rare diseases.

Metaphyseal chondrodysplasia with cone‐shaped epiphyses: A specific form involving the lower limbs

M. Holder, M. le Merrer, O. Boute, 2004, American journal of medical genetics. Part A.

Clinical variability of familial tumoral calcinosis caused by novel GALNT3 mutations

Leah R. Padgett, M. Econs, P. Quartier, 2010, American journal of medical genetics. Part A.

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.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

A cluster of translocation breakpoints in 2q37 is associated with overexpression of NPPC in patients with a similar overgrowth phenotype

N. Philip, L. Villard, A. Moncla, 2007, Human mutation.

Asphyxiating thoracic dysplasia: clinical and molecular review of 39 families

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

Axial spondylometaphyseal dysplasia: Confirmation and further delineation of a new SMD with retinal dystrophy

B. Isidor, A. David, M. le Merrer, 2010, American journal of medical genetics. Part A.

Exome sequencing identifies INPPL1 mutations as a cause of opsismodysplasia.

A. Munnich, C. Bole-Feysot, P. Nitschké, 2013, American journal of human 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.

Revisiting metatropic dysplasia: Presentation of a series of 19 novel patients and review of the literature

A. Munnich, V. Cormier-Daire, M. le Merrer, 2008, American Journal of Medical Genetics. Part A.

Underdiagnosis of mild congenital disorders of glycosylation type Ia.

P. de Lonlay, M. le Merrer, I. Giurgea, 2005, Pediatric neurology.

Stüve–Wiedemann syndrome: long‐term follow‐up and genetic heterogeneity

A. Munnich, A. Mégarbané, B. Hamel, 2010, Clinical genetics.

A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome.

N. Philip, A. Verloes, B. Gilbert-Dussardier, 1995, American journal of human genetics.

Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia.

J. Roume, J. Bonaventure, A. Jobert, 1998, The Journal of clinical investigation.

COL9A3: A third locus for multiple epiphyseal dysplasia.

L. Ala‐Kokko, M. le Merrer, M. Merrer, 1999, American journal of human genetics.

A gene for hereditary multiple exostoses maps to chromosome 19p.

A. Munnich, A. Toutain, A. Schinzel, 1994, Human molecular genetics.

Novel comprehensive diagnostic strategy in Pitt–Hopkins syndrome: Clinical score and further delineation of the TCF4 mutational spectrum

A. Afenjar, N. Philip, S. Aftimos, 2012, Human mutation.

Spectrum of NSD1 mutations in Sotos and Weaver syndromes

A. Munnich, D. Lacombe, S. Lyonnet, 2003, Journal of medical genetics.

[Epidemiological and genetic study of 3 congenital cardiopathies with neonatal disclosure].

J. Frézal, M. le Merrer, M. Briard, 1984, Archives francaises de pediatrie.

New insights in congenital bowing of the femora

A. Munnich, V. Cormier-Daire, M. le Merrer, 2004, Clinical genetics.

Segregation analysis in nonsyndromic holoprosencephaly.

A. Munnich, C. Bonaïti‐pellié, S. Odent, 1998, American journal of medical genetics.

Severe brain and limb defects with possible autosomal recessive inheritance: a series of six cases and review of the literature.

C. Fallet-Bianco, J. Roume, M. le Merrer, 1997, American journal of medical genetics.

The identification of MAFB mutations in eight patients with multicentric carpo–tarsal osteolysis supports genetic homogeneity but clinical variability

L. Faivre, P. Quartier, V. Cormier-Daire, 2013, American journal of medical genetics. Part A.

Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases

A. Munnich, N. Philip, D. Rimoin, 2003, Journal of medical genetics.

Genetic homogeneity of the Camurati–Engelmann disease

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2000, Clinical genetics.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1999, Journal of medical genetics.

Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2.

A. Munnich, P. Rustin, S. Lyonnet, 1998, American journal of medical genetics.

Phenotypic variability at the TGF-β1 locus in Camurati-Engelmann disease

A. Munnich, A. Verloes, L. Faivre, 2001, Human Genetics.

Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines.

A. Feydy, J. Laredo, N. Martin-Duverneuil, 2014, European journal of radiology.

When Mucolipidosis III meets Mucolipidosis II: GNPTA gene mutations in 24 patients.

H. Mandel, N. Elçioglu, F. Stewart, 2006, Molecular genetics and metabolism.

Mutations of the fibroblast growth factor receptor-3 gene in achondroplasia.

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, Hormone research.

Infantile cortical hyperostosis (Caffey disease): a review.

M. le Merrer, Agnès S Kamoun-Goldrat, 2008, Journal of oral and maxillofacial surgery.

Presentation of six cases of Stüve-Wiedemann syndrome

A. Munnich, P. Rustin, S. Lyonnet, 1998, Pediatric Radiology.

Effects of bisphosphonates on tooth eruption in children with osteogenesis imperfecta.

M. le Merrer, Agnès S Kamoun-Goldrat, D. Ginisty, 2008, European journal of oral sciences.

Progressive osseous heteroplasia: REPORT OF A FAMILY

F. Kaplan, M. le Merrer, J. Urtizberea, 1998 .

Genotype-phenotype correlation in hereditary multiple exostoses

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 2001, Journal of medical genetics.

Facial anomalies in D-2-hydroxyglutaric aciduria.

A. Munnich, S. Lyonnet, D. Rabier, 1999, American journal of medical genetics.

Cone‐rod dystrophy, growth hormone deficiency and spondyloepiphyseal dysplasia: Report of a new case without nephronophtisis

B. Isidor, A. David, M. le Merrer, 2009, American journal of medical genetics. Part A.

Long‐term follow‐up in a patient with metatropic dysplasia

A. Munnich, V. Cormier-Daire, M. le Merrer, 2005, American journal of medical genetics. Part A.

Hypophosphatasia: molecular testing of 19 prenatal cases and discussion about genetic counseling

S. Mehta, D. Chitayat, A. Zankl, 2008, Prenatal diagnosis.

SHOX point mutations in dyschondrosteosis

A. Munnich, N. Dagoneau, V. Cormier-Daire, 2001, Journal of medical genetics.

Lumping of CFC and Baraitser-Patton Noonan-like syndromes.

A. Verloes, M. le Merrer, 1992, American journal of medical genetics.

No evidence for linkage to the type 1 or type 2 neurofibromatosis loci in Noonan syndrome families.

A. Munnich, D. Lacombe, S. Lyonnet, 1993, American journal of medical genetics.

Exclusion of allelism of Noonan syndrome and neurofibromatosis-type 1 in a large family with Noonan syndrome-neurofibromatosis association.

A. Munnich, M. Vidaud, D. Vidaud, 1996, American journal of medical genetics.

[Association of VACTERL and hydrocephalus: a new familial entity].

C. Moraine, M. le Merrer, C. Lambotte, 1984, Annales de genetique.

A new lethal syndrome of exomphalos, short limbs, and macrogonadism

A. Munnich, S. Lyonnet, L. Faivre, 1999, Journal of medical genetics.

Embryonic testicular regression syndrome and severe mental retardation in sibs.

A. Gompel, C. Turleau, M. le Merrer, 1985, Annales de genetique.

The molecular basis of X-linked spondyloepiphyseal dysplasia tarda.

J. Gécz, A. Munnich, S. Robertson, 2001, American journal of human genetics.

Serpentine fibula‐polycystic kidney syndrome caused by truncating mutations in NOTCH2

C. Le Caignec, B. Isidor, V. Cormier-Daire, 2011, Human mutation.

Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1).

A. Munnich, J. Bonaventure, V. El Ghouzzi, 1996, Human molecular genetics.

Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders

R Redon, D Sanlaville, L Colleaux, 2006, Journal of Medical Genetics.

Congenital dyserythropoietic anemia type I is caused by mutations in codanin-1.

J. Beckmann, D. Lancet, H. Tamary, 2002, American journal of human genetics.

Clinical variability and genetic homogeneity of the camptodactyly-arthropathy-coxa vara-pericarditis syndrome.

A. Munnich, A. Prieur, P. Woo, 2000, American journal of medical genetics.

Growth charts in Kabuki syndrome 1

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2019, American Journal of Medical Genetics. Part A.

Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1.

J. Weissenbach, R. Heilig, D. Samson, 1997, Human molecular genetics.

Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome

A. Munnich, G. Meroni, D. Lacombe, 2004, Journal of Medical Genetics.

Ischiovertebral Dysplasia: A Retrospective Analysis of 30 Consecutive Cases Pointing Out the Specifics and Risks of the Spine Management

L. Miladi, P. Wicart, J. Dubousset, 2014, Spine.

BBBG syndrome or Opitz syndrome: new family.

A. Verloes, M. le Merrer, M. Briard, 1989, American journal of medical genetics.

Cerebro-osseous-digital syndrome: four new cases of a lethal skeletal dysplasia--distinct from Neu-Laxova Syndrome.

D. Rimoin, A. Nerlich, M. Gonzalès, 2002, American journal of medical genetics.

Osteocraniostenosis.

A. Verloes, M. le Merrer, P. Maroteaux, 1994, Journal of medical genetics.

Autosomal dominant spondylocarpotarsal synostosis syndrome: Phenotypic homogeneity and genetic heterogeneity

S. Jacquemont, C. Le Caignec, B. Isidor, 2008, American journal of medical genetics. Part A.

Mutations in two regions of FLNB result in atelosteogenesis I and III

S. Robertson, D. Rimoin, J. Roume, 2006, Human mutation.

X-Linked Spondyloepiphyseal Dysplasia Tarda: Molecular Cause of a Heritable Platyspondyly

R. Brenner, M. le Merrer, J. Fiedler, 2003, Spine.

The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92.

M. Nelen, B. V. van Oost, A. Wilkie, 1993, Genomics.

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.

A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases

A. Munnich, E. Schaftingen, G. Matthijs, 2001, Journal of medical genetics.

Holoprosencephaly-polydactyly ('pseudotrisomy 13') syndrome: a syndrome with features of hydrolethalus and Smith-Lemli-Opitz syndromes. A collaborative multicentre study.

N. Philip, A. Verloes, M. Gonzalès, 1991, Journal of medical genetics.

Mutations in KCTD1 cause scalp-ear-nipple syndrome.

J. Shendure, D. Nickerson, Joshua D. Smith, 2013, American journal of human genetics.

Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism.

A. Munnich, J. Bonaventure, L. Legeai-Mallet, 1996, American journal of medical genetics.

Prenatal diagnostic indicators of paternal uniparental disomy 14

A. Bottani, Y. Vial, M. le Merrer, 2006, Prenatal diagnosis.

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.

The gene for hereditary multiple exostoses does not map to the Langer-Giedion region (8q23-q24).

A. Munnich, S. Lyonnet, M. le Merrer, 1992, Journal of medical genetics.

PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy.

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

Dwarfism with gloomy face: a new syndrome with features of 3-M syndrome.

M. le Merrer, M. Merrer, P. Maroteaux, 1991, Journal of medical genetics.

Atypical findings in Kabuki syndrome: Report of 8 patients in a series of 20 and review of the literature

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2004, American journal of medical genetics. Part A.

Exclusion of chromosome 9 helps to identify mild variants of acromesomelic dysplasia Maroteaux type

A. Munnich, G. Mortier, A. Mégarbané, 2000, Journal of medical genetics.

Clinical and genetic heterogeneity of hypochondroplasia.

J. Weissenbach, A. Munnich, J. Bonaventure, 1996, Journal of medical genetics.

[Trigonocephaly: isolated, associated and syndromic forms. Genetic study in a series of 278 patients].

É. Arnaud, D. Rénier, M. le Merrer, 1998, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Genetic study of nonsyndromic coronal craniosynostosis.

C. Bonaïti‐pellié, D. Rénier, M. le Merrer, 1995, American journal of medical genetics.

Genetic study of scaphocephaly.

C. Bonaïti‐pellié, D. Rénier, M. le Merrer, 1996, American journal of medical genetics.

Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome.

J. Bonaventure, D. Rénier, M. le Merrer, 2000, Journal of neurosurgery.

Clinical variability in patients with Apert's syndrome.

M. Gonzalès, J. Bonaventure, V. El Ghouzzi, 1999, Journal of neurosurgery.

Erratum to: Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Comparison of Clinical Presentations and Outcomes Between Patients With TGFBR2 and FBN1 Mutations in Marfan Syndrome and Related Disorders

P. Ravaud, C. Béroud, G. Jondeau, 2009, Circulation.

Paracentric inversion of the X chromosome [inv(X)(q12q28)] in familial FG syndrome.

A. Munnich, S. Odent, C. Turleau, 1999, American journal of medical genetics.

Lamin A and ZMPSTE24 (FACE-1) defects cause nuclear disorganization and identify restrictive dermopathy as a lethal neonatal laminopathy.

R. Hennekam, A. Verloes, N. Lévy, 2004, Human molecular genetics.

Cantú syndrome is caused by mutations in ABCC9.

B. V. van Bon, A. Hoischen, B. D. de Vries, 2012, American journal of human genetics.

Clinical homogeneity and genetic heterogeneity in Weill–Marchesani syndrome

A. Munnich, A. Mégarbané, R. Gorlin, 2003, American journal of medical genetics. Part A.

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

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

Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP)

J. Connor, M. Fardeau, M. le Merrer, 2000, Clinical genetics.

Scalp nodules as a presenting sign of fibrodysplasia ossificans progressiva: a register-based study.

C. Bodemer, Y. de Prost, M. le Merrer, 2011, Journal of the American Academy of Dermatology.

Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): report of two unrelated cases.

A. Munnich, S. Lyonnet, L. Faivre, 2001, Clinical dysmorphology.

[Autosomal recessive metaphyseal chondrodysplasia and Hirschsprung's disease].

M. le Merrer, P. Maroteaux, M. Briard, 1991, Annales de pediatrie.

Recessive metaphyseal dysplasia without hypotrichosis. A syndrome clinically distinct from McKusick cartilage-hair hypoplasia.

A. Verloes, G. Piérard, M. le Merrer, 1990, Journal of medical genetics.

Mutations in DDR2 gene cause SMED with short limbs and abnormal calcifications.

J. Melki, J. Sosna, R. Belostotsky, 2009, American journal of human genetics.

Crouzon syndrome with acanthosis nigricans: a case-based update

S. Hadj-Rabia, F. Di Rocco, É. Arnaud, 2011, Child's Nervous System.

X linked spastic paraplegia (SPG2): clinical heterogeneity at a single gene locus.

A. Munnich, D. Bonneau, C. Bulteau, 1993, Journal of medical genetics.

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

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

A gene for Meckel syndrome maps to chromosome 11q13.

A. Munnich, E. Génin, C. Fallet-Bianco, 1998, American journal of human genetics.

Collaborative study of mosaic tetrasomy 12p or Pallister-Killian syndrome (nineteen fetuses or children).

M. Pelissier, C. Turc‐Carel, D. Lacombe, 1997, Annales de genetique.

Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation

A. Munnich, S. Lyonnet, V. Cormier-Daire, 2000, Journal of medical genetics.

Molecular screening of ADAMTSL2 gene in 33 patients reveals the genetic heterogeneity of geleophysic dysplasia

A. Munnich, K. Devriendt, R. Hennekam, 2011, Journal of Medical Genetics.

Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance

E. Zackai, A. Munnich, M. Polak, 2001, Journal of medical genetics.

Neural tube defects in France: segregation analysis.

R. Elston, F. Demenais, M. le Merrer, 1982, American journal of medical genetics.

Identification of a novel causative mutation in the ROR2 gene in a Lebanese family with a mild form of recessive Robinow syndrome.

E. Chouery, A. Mégarbané, V. Cormier-Daire, 2012, European journal of medical genetics.

Genochondromatosis.

M. le Merrer, P. Maroteaux, P. Fressinger, 1991, Journal of Medical Genetics.

Cognitive and neuroradiological improvement in three patients with attenuated MPS I treated by laronidase.

N. Boddaert, P. de Lonlay, M. le Merrer, 2010, Molecular genetics and metabolism.

Heterogeneity versus variability in megalocornea-mental retardation (MMR) syndromes: report of new cases and delineation of 4 probable types.

A. Verloes, F. Meire, H. Journel, 1993, American journal of medical genetics.

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.

Congenital microvillus atrophy in a girl with autosomal dominant hypochondroplasia.

W. Kiess, M. le Merrer, A. Phillips, 1999, Journal of pediatric gastroenterology and nutrition.

Recent advances in Dyggve-Melchior-Clausen syndrome.

A. Munnich, V. El Ghouzzi, V. Cormier-Daire, 2004, Molecular genetics and metabolism.

Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1

A. Munnich, A. Mégarbané, V. El Ghouzzi, 2002, Journal of Medical Genetics.

Genetic heterogeneity of Meckel syndrome.

A. Munnich, E. Génin, J. Roume, 1997, Journal of medical genetics.

Clinical and molecular spectrum of renal malformations in Kabuki syndrome.

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

Clinical and molecular overlap in overgrowth syndromes

A. Munnich, S. Lyonnet, C. Gicquel, 2022 .

Bilateral Poland anomaly versus thoracic dysplasia.

M. le Merrer, P. Maroteaux, 1998, American journal of medical genetics.

Finger creases lend a hand in Kabuki syndrome.

A. Toutain, N. Philip, B. Gilbert-Dussardier, 2013, European journal of medical genetics.

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.

Expanding the phenotypic spectrum of variants in PDE4D/PRKAR1A: from acrodysostosis to acroscyphodysplasia

A. Munnich, H. Kayserili, A. Verloes, 2018, European Journal of Human Genetics.

Craniofacial anomalies, deafness, brachydactyly, short stature, and moderate mental retardation due to a cryptic 6p;11q translocation.

L. Shaffer, C. Kashork, B. Bejjani, 2002, American journal of medical genetics.

Pachydysostosis of the fibula.

M. le Merrer, P. Freisinger, P. Maroteaux, 1991, The Journal of bone and joint surgery. British volume.

Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays

A. Munnich, P. Rustin, L. Pasquier, 2005, Archives of Disease in Childhood.

Clinical and genetic heterogeneity of Seckel syndrome.

A. Munnich, A. Verloes, S. Lyonnet, 2002, American journal of medical genetics.

Craniofacial anomalies and malformations in respiratory chain deficiency.

A. Munnich, P. Rustin, A. Rötig, 1996, American journal of medical genetics.

Scalp‐ear‐nipple (Finlay–Marks) syndrome: a familial case with renal involvement

A. Munnich, R. Salomon, S. Lyonnet, 1999, Clinical genetics.

Scalp defect, nipples absence and ears abnormalities: an other case of Finlay syndrome.

D. Rénier, M. le Merrer, M. Briard, 1991, Genetic counseling.

Apparent genetic homogeneity of the Treacher Collins-Franceschetti syndrome.

A. Munnich, A. Vignal, S. Lyonnet, 1994, American journal of medical genetics.

Dyssegmental dysplasia with glaucoma.

J. Bonaventure, M. le Merrer, P. Maroteaux, 1996, American journal of medical genetics.

Prenatal cortical hyperostosis with COL1A1 gene mutation

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

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.

New dysplasia or achondrogenesis type 1B? The importance of histology and molecular biology in delineating skeletal dysplasias

D. Chitayat, A. Superti-Furga, M. le Merrer, 2001, Pediatric Radiology.

Homozygosity for a novel DTDST mutation in a child with a ‘broad bone‐platyspondylic’ variant of diastrophic dysplasia

A. Mégarbané, A. Superti-Furga, M. le Merrer, 1999, Clinical genetics.

Pamidronate Treatment of Children with Moderate-to-Severe Osteogenesis Imperfecta: A Note of Caution

M. Polak, J. Souberbielle, M. le Merrer, 2008, Hormone Research in Paediatrics.

Expanding the skeletal phenotype of Loeys‐Dietz syndrome

A. Munnich, F. Brunelle, C. Boileau, 2011, American journal of medical genetics. Part A.

Fourth case of cerebral, ocular, dental, auricular, skeletal syndrome (CODAS), description of new features and molecular analysis

F. Denoyelle, H. Ducou le Pointe, J. Siffroi, 2010, American journal of medical genetics. Part A.

Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3

A. Munnich, D. Bacq, L. Faivre, 2003, Journal of medical genetics.

Acrofacial dysostoses.

M. le Merrer, J. Ribier, M. Cikuli, 1989, American journal of medical genetics.

[Mutations of FGFR3 gene cause 3 types of nanisms with variably severity: achondroplasia, thanatophoric nanism and hypochondroplasia].

A. Munnich, J. Bonaventure, M. le Merrer, 1996, Annales d'endocrinologie.

[Association of achondroplasia to a mutation in the transmembrane domain of fibroblastic growth factor receptor 3 (FGFR3)].

A. Munnich, J. Bonaventure, M. le Merrer, 1996, Annales d'Endocrinologie.

Blepharophimosis, eczema, and growth and developmental delay in a young adult: late features of Dubowitz syndrome?

A. Munnich, S. Lyonnet, Y. de Prost, 1992, Journal of medical 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.

Prezygotic origin of the isochromosome 12p in Pallister-Killian syndrome.

A. Munnich, S. Lyonnet, M. Vekemans, 1997, American journal of medical genetics.

Prenatal diagnosis of brachytelephalangic chondrodysplasia punctata: case report

C. Garel, H. Ducou le Pointe, A. Jacquette, 2009, Ultrasound in Obstetrics and Gynecology.

Lethal progeroid syndrome with osteolysis. Case report.

M. le Merrer, P. Maroteaux, M. Briard, 1991, Annales de Genetique.

Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy

J. Robert, M. le Merrer, P. Castelnau, 2000, European Journal of Pediatrics.

[Osteogenesis imperfecta, diagnosis information (clinical and genetic classification)].

V. Cormier-Daire, A. Lèbre, M. le Merrer, 2008, Archives de pediatrie : organe officiel de la Societe francaise de pediatrie.

Spondyloepimetaphyseal dysplasia of Maroteaux (pseudo‐Morquio type II syndrome): Report of a new patient and review of the literature

A. Mégarbané, C. Caillaud, M. le Merrer, 2004, American journal of medical genetics. Part A.

Dominant carpotarsal osteochondromatosis.

H. Bensahel, M. le Merrer, P. Freisinger, 1993, Journal of medical genetics.

Fetal fibrochondrogenesis at 26 weeks' gestation

A. Toutain, M. le Merrer, H. Randrianaivo, 2002, Prenatal diagnosis.

The phenotype of fibrodysplasia ossificans progressiva

J. Connor, F. Kaplan, D. Glaser, 2005 .

Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia

R. Pauli, M. Warman, W. Hul, 1999, Nature Genetics.

Ptosis, down-slanting palpebral fissures, hypertelorism, seizures and mental retardation: a possible new MCA/MR syndrome.

A. Mégarbané, M. le Merrer, K. el Kallab, 1997, Clinical dysmorphology.

Spondyloepimetaphyseal dysplasia (Hall type) with laryngeal stenosis: a new diagnostic feature?

C. Hall, M. le Merrer, C. Fourier, 2004, Clinical dysmorphology.

A genome wide scan for familial high myopia suggests a novel locus on chromosome 7q36

O. Rascol, R. Winter, P. Calvas, 2002, Journal of medical genetics.

Mainzer-Saldino syndrome is a ciliopathy caused by mutations in the IFT140 gene

A. Munnich, S. Hanein, C. Antignac, 2012, Cilia.

Fibrous dysplasia and McCune-Albright syndrome: imaging for positive and differential diagnoses, prognosis, and follow-up guidelines.

A. Feydy, J. Laredo, N. Martin-Duverneuil, 2014, European journal of radiology.

Ophthalmo-acromelic syndrome.

M. le Merrer, P. Maroteaux, M. Briard, 1988, Annales de Genetique.

Acrodysgenital dwarfism or Smith-Lemli-Opitz type II syndrome.

M. le Merrer, 1991, Clinical genetics.

Arthrogryposis multiplex congenita and Cerebellopontine Ischemic Lesions in Sibs: Recurrence of Prenatal Disruptive Brain Lesions with Different Patterns of Expression?

P. Sonigo, F. Encha-Razavi, L. Salomon, 2002, Fetal Diagnosis and Therapy.

Effectiveness of Anastrozole and Cyproterone Acetate in Two Brothers with Familial Male Precocious Puberty

G. Pinto, C. Sultan, M. le Merrer, 2008, Journal of pediatric endocrinology & metabolism : JPEM.

Spondyloenchondrodysplasia Due to Mutations in ACP5: A Comprehensive Survey

C. Wouters, Y. Crow, L. Adès, 2016, Journal of Clinical Immunology.

Only four genes (EDA1, EDAR, EDARADD, and WNT10A) account for 90% of hypohidrotic/anhidrotic ectodermal dysplasia cases

A. Smahi, C. Bodemer, A. Munnich, 2011, Human mutation.

OBSL1 mutations in 3‐M syndrome are associated with a modulation of IGFBP2 and IGFBP5 expression levels

A. Munnich, H. Stewart, J. Michaud, 2010, Human mutation.

Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias.

D. Sillence, A. Munnich, J. Casanova, 2011, American journal of human genetics.