Published in Mol Genet Metab on January 04, 2010
Cerebral magnetic resonance findings during enzyme replacement therapy in mucopolysaccharidosis. Pediatr Radiol (2017) 0.75
Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. J Med Genet (2006) 4.64
Aconitase and mitochondrial iron-sulphur protein deficiency in Friedreich ataxia. Nat Genet (1997) 4.26
Mutations in the gene encoding fibroblast growth factor receptor-3 in achondroplasia. Nature (1994) 4.04
Mutations of the TWIST gene in the Saethre-Chotzen syndrome. Nat Genet (1997) 3.37
Neuroimaging features of neurodegeneration with brain iron accumulation. AJNR Am J Neuroradiol (2011) 2.30
SHOX mutations in dyschondrosteosis (Leri-Weill syndrome). Nat Genet (1998) 2.30
In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. J Med Genet (2003) 2.26
Mutations in the CCN gene family member WISP3 cause progressive pseudorheumatoid dysplasia. Nat Genet (1999) 2.23
Juvenile and adult-onset acid maltase deficiency in France: genotype-phenotype correlation. Neurology (2000) 2.16
Primary aneurysmal bone cysts in children: percutaneous sclerotherapy with absolute alcohol and proposal of a vascular classification. Pediatr Radiol (2012) 2.15
Congenital lumbosacral lipomas. Childs Nerv Syst (1997) 2.11
Respiratory insufficiency and limb muscle weakness in adults with Pompe's disease. Eur Respir J (2005) 2.04
Making diagnosis of Pompe disease at a presymptomatic stage: to treat or not to treat? Neurology (2011) 2.04
X-linked spastic paraplegia and Pelizaeus-Merzbacher disease are allelic disorders at the proteolipid protein locus. Nat Genet (1994) 1.97
Transfer of a foreign gene into the brain using adenovirus vectors. Nat Genet (1993) 1.95
Genetic study of nonsyndromic coronal craniosynostosis. Am J Med Genet (1995) 1.88
FGFR2 mutations in Pfeiffer syndrome. Nat Genet (1995) 1.82
CpG dinucleotides are mutation hot spots in phenylketonuria. Genomics (1989) 1.70
Clinical and molecular heterogeneity of phenylalanine hydroxylase deficiencies in France. Am J Hum Genet (1988) 1.66
Recognition and management of fatty acid oxidation defects: a series of 107 patients. J Inherit Metab Dis (1999) 1.63
Genitopatellar syndrome: a new condition comprising absent patellae, scrotal hypoplasia, renal anomalies, facial dysmorphism, and mental retardation. J Med Genet (2000) 1.62
Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. Hum Mol Genet (1997) 1.59
Paternal mutation of the sulfonylurea receptor (SUR1) gene and maternal loss of 11p15 imprinted genes lead to persistent hyperinsulinism in focal adenomatous hyperplasia. J Clin Invest (1998) 1.58
Molecular genetics of phenylketonuria in Mediterranean countries: a mutation associated with partial phenylalanine hydroxylase deficiency. Am J Hum Genet (1989) 1.58
Neurologic outcomes of 90 neonates and infants with persistent hyperinsulinemic hypoglycemia. Pediatrics (2001) 1.53
Absence of functional receptors for parathyroid hormone and parathyroid hormone-related peptide in Blomstrand chondrodysplasia. J Clin Invest (1998) 1.52
Missense FGFR3 mutations create cysteine residues in thanatophoric dwarfism type I (TD1). Hum Mol Genet (1996) 1.50
A primal sketch of the cortex mean curvature: a morphogenesis based approach to study the variability of the folding patterns. IEEE Trans Med Imaging (2003) 1.49
Incomplete penetrance and expressivity skewing in hereditary multiple exostoses. Clin Genet (1997) 1.49
Sulphate transporter gene mutations in apparently isolated club foot. J Med Genet (2001) 1.47
Efficiency of metabolic screening in childhood cardiomyopathies. Eur Heart J (1998) 1.46
Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients. Eur J Endocrinol (2014) 1.46
Facial anomalies in D-2-hydroxyglutaric aciduria. Am J Med Genet (1999) 1.42
A gene for Meckel syndrome maps to chromosome 11q13. Am J Hum Genet (1998) 1.42
Hematopoietic stem cell mobilizing agents G-CSF, cyclophosphamide or AMD3100 have distinct mechanisms of action on bone marrow HSC niches and bone formation. Leukemia (2012) 1.41
Genotype-phenotype correlation in hereditary multiple exostoses. J Med Genet (2001) 1.40
A new lethal syndrome of exomphalos, short limbs, and macrogonadism. J Med Genet (1999) 1.39
Molecular analysis of pericentrin gene (PCNT) in a series of 24 Seckel/microcephalic osteodysplastic primordial dwarfism type II (MOPD II) families. J Med Genet (2009) 1.38
Genetic study of scaphocephaly. Am J Med Genet (1996) 1.34
A broad spectrum of clinical presentations in congenital disorders of glycosylation I: a series of 26 cases. J Med Genet (2001) 1.34
Refinement of cortical dysgeneses spectrum associated with TUBA1A mutations. J Med Genet (2008) 1.31
Recurrent de novo mitochondrial DNA mutations in respiratory chain deficiency. J Med Genet (2003) 1.30
Methods for a prompt and reliable laboratory diagnosis of Pompe disease: report from an international consensus meeting. Mol Genet Metab (2007) 1.29
A gene on chromosome 11q23 coding for a putative glucose- 6-phosphate translocase is mutated in glycogen-storage disease types Ib and Ic. Am J Hum Genet (1998) 1.28
ABCC8 and KCNJ11 molecular spectrum of 109 patients with diazoxide-unresponsive congenital hyperinsulinism. J Med Genet (2010) 1.27
Stop codon FGFR3 mutations in thanatophoric dwarfism type 1. Nat Genet (1995) 1.27
Spectrum of NSD1 mutations in Sotos and Weaver syndromes. J Med Genet (2003) 1.26
Spatio-temporal expression of FGFR 1, 2 and 3 genes during human embryo-fetal ossification. Mech Dev (1998) 1.25
Dilative arteriopathy and basilar artery dolichoectasia complicating late-onset Pompe disease. Neurology (2008) 1.22
Molar tooth sign and superior vermian dysplasia: a radiological, clinical, and genetic study. Neuropediatrics (2006) 1.21
Phosphomannose isomerase deficiency: a carbohydrate-deficient glycoprotein syndrome with hepatic-intestinal presentation. Am J Hum Genet (1998) 1.20
COL9A3: A third locus for multiple epiphyseal dysplasia. Am J Hum Genet (1999) 1.17
Temporal lobe dysfunction in childhood autism: a PET study. Positron emission tomography. Am J Psychiatry (2000) 1.17
Methylmalonic and propionic acidurias: management without or with a few supplements of specific amino acid mixture. J Inherit Metab Dis (2006) 1.17
The mitochondrial DNA G13513A MELAS mutation in the NADH dehydrogenase 5 gene is a frequent cause of Leigh-like syndrome with isolated complex I deficiency. J Med Genet (2003) 1.16
Clinical, radiological, and chondro-osseous findings in opsismodysplasia: survey of a series of 12 unreported cases. J Med Genet (2003) 1.16
Dandy-Walker malformation: prenatal diagnosis and prognosis. Childs Nerv Syst (2003) 1.16
Clinical variability in patients with Apert's syndrome. J Neurosurg (1999) 1.15
Chromosome 11p15 paternal isodisomy in focal forms of neonatal hyperinsulinism. J Clin Endocrinol Metab (2008) 1.14
Common mutations in the fibroblast growth factor receptor 3 (FGFR 3) gene account for achondroplasia, hypochondroplasia, and thanatophoric dwarfism. Am J Med Genet (1996) 1.14
Carbohydrate-deficient glycoprotein syndromes become congenital disorders of glycosylation: an updated nomenclature for CDG. First International Workshop on CDGS. Glycoconj J (1999) 1.14
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. Am J Hum Genet (2001) 1.12
Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. Am J Hum Genet (2001) 1.11
Molecular characterization of 82 patients with pyruvate dehydrogenase complex deficiency. Structural implications of novel amino acid substitutions in E1 protein. Mol Genet Metab (2011) 1.10
Morphological mosaicism of the pancreatic islets: a novel anatomopathological form of persistent hyperinsulinemic hypoglycemia of infancy. J Clin Endocrinol Metab (2011) 1.09
Posterior fossa imaging in 158 children with ataxia. J Neuroradiol (2010) 1.09
Gaucher disease: the origins of the Ashkenazi Jewish N370S and 84GG acid beta-glucosidase mutations. Am J Hum Genet (2000) 1.09
Atypical findings in Kabuki syndrome: report of 8 patients in a series of 20 and review of the literature. Am J Med Genet A (2004) 1.08
Syndromal and nonsyndromal primary trigonocephaly: analysis of a series of 237 patients. Am J Med Genet (1998) 1.08
Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. J Med Genet (2004) 1.07
A high rate (20%-30%) of parental consanguinity in cytochrome-oxidase deficiency. Am J Hum Genet (1998) 1.07
Neural tube defects in France: segregation analysis. Am J Med Genet (1982) 1.06
Mutations in the mitochondrial glutamate carrier SLC25A22 in neonatal epileptic encephalopathy with suppression bursts. Clin Genet (2009) 1.05
Clinical homogeneity of the Stüve-Wiedemann syndrome and overlap with the Schwartz-Jampel syndrome type 2. Am J Med Genet (1998) 1.05
IMAGe, a new clinical association of intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies. J Clin Endocrinol Metab (1999) 1.05
Intracranial venous anomalies associated with atretic cephalocoeles. Pediatr Radiol (2000) 1.05
A novel microsatellite DNA marker at locus D7S1870 detects hemizygosity in 75% of patients with Williams syndrome. Am J Hum Genet (1995) 1.04
Guthrie cards for detection of point mutations in phenylketonuria. Lancet (1988) 1.04
Phenotypic variability at the TGF-beta1 locus in Camurati-Engelmann disease. Hum Genet (2001) 1.03
Wolcott-Rallison syndrome: a case with endocrine and exocrine pancreatic deficiency and pancreatic hypotrophy. Eur J Pediatr (2000) 1.02
Arnold tongues in a microfluidic drop emitter. Phys Rev Lett (2006) 1.02
Mutations within or upstream of the basic helix-loop-helix domain of the TWIST gene are specific to Saethre-Chotzen syndrome. Eur J Hum Genet (1999) 1.01
Revisiting metatropic dysplasia: presentation of a series of 19 novel patients and review of the literature. Am J Med Genet A (2008) 1.00
SHOX point mutations in dyschondrosteosis. J Med Genet (2001) 1.00
Fibroblast growth factor receptor 3 mutation in nonsyndromic coronal synostosis: clinical spectrum, prevalence, and surgical outcome. J Neurosurg (2000) 1.00
Spectrum of phenylketonuria mutations in western Europe and north Africa, and their relation to polymorphic DNA haplotypes at the phenylalanine hydroxylase locus. Hum Genet (1991) 0.99
Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. Clin Genet (2010) 0.99
The surgical management of congenital hyperinsulinemic hypoglycemia in infancy. J Pediatr Surg (2004) 0.99
Adenoviral gene therapy of the Tay-Sachs disease in hexosaminidase A-deficient knock-out mice. Hum Mol Genet (1999) 0.99
Homozygosity mapping of a Desbuquois dysplasia locus to chromosome 17q25.3. J Med Genet (2003) 0.98
Long-term outcome in methylmalonic aciduria: a series of 30 French patients. Mol Genet Metab (2009) 0.97
The gene for spondyloepiphyseal dysplasia (SEDL) maps to Xp22 between DXS16 and DXS92. Genomics (1993) 0.97
Homozygosity mapping of a Dyggve-Melchior-Clausen syndrome gene to chromosome 18q21.1. J Med Genet (2002) 0.97
Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. J Med Genet (2001) 0.96
Unbalanced expression of 11p15 imprinted genes in focal forms of congenital hyperinsulinism: association with a reduction to homozygosity of a mutation in ABCC8 or KCNJ11. Am J Pathol (2001) 0.96