Published in Am J Med Genet C Semin Med Genet on February 15, 2010
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet (2011) 1.04
Holoprosencephaly: recommendations for diagnosis and management. Curr Opin Pediatr (2010) 1.02
NOTCH, a new signaling pathway implicated in holoprosencephaly. Hum Mol Genet (2010) 0.98
Holoprosencephaly: signaling interactions between the brain and the face, the environment and the genes, and the phenotypic variability in animal models and humans. Wiley Interdiscip Rev Dev Biol (2014) 0.88
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Clinical utility gene card for: Holoprosencephaly. Eur J Hum Genet (2010) 0.79
Imaging the fetal central nervous system. Facts Views Vis Obgyn (2011) 0.75
Molecular prenatal diagnosis of a sporadic alobar holoprosencephalic fetus: genotype-phenotype correlations. J Prenat Med (2012) 0.75
Molecular analysis of holoprosencephaly in South America. Genet Mol Biol (2014) 0.75
Gli2 gene-environment interactions contribute to the etiological complexity of holoprosencephaly: evidence from a mouse model. Dis Model Mech (2016) 0.75
Infection of a human hepatoma cell line by hepatitis B virus. Proc Natl Acad Sci U S A (2002) 4.52
Mutations in the beta-tubulin gene TUBB2B result in asymmetrical polymicrogyria. Nat Genet (2009) 3.01
Recurrent rearrangements in synaptic and neurodevelopmental genes and shared biologic pathways in schizophrenia, autism, and mental retardation. Arch Gen Psychiatry (2009) 2.82
BBS10 encodes a vertebrate-specific chaperonin-like protein and is a major BBS locus. Nat Genet (2006) 2.68
Holoprosencephaly. Orphanet J Rare Dis (2007) 2.63
Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. Nature (2011) 2.59
Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24
Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations. Hum Mutat (2009) 1.67
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases. Acta Neuropathol (2008) 1.64
The Mayer-Rokitansky-Küster-Hauser syndrome (congenital absence of uterus and vagina)--phenotypic manifestations and genetic approaches. J Negat Results Biomed (2006) 1.64
Prediction of liver fibrosis in patients with features of the metabolic syndrome regardless of alcohol consumption. Hepatology (2004) 1.58
Mutations in the TGFβ binding-protein-like domain 5 of FBN1 are responsible for acromicric and geleophysic dysplasias. Am J Hum Genet (2011) 1.55
Analysis of genotype-phenotype correlations in human holoprosencephaly. Am J Med Genet C Semin Med Genet (2010) 1.51
CC2D2A mutations in Meckel and Joubert syndromes indicate a genotype-phenotype correlation. Hum Mutat (2009) 1.48
Phenotypic spectrum of fetal Smith-Lemli-Opitz syndrome. Eur J Med Genet (2011) 1.48
NF1 microdeletions in neurofibromatosis type 1: from genotype to phenotype. Hum Mutat (2010) 1.47
Identification of mutations in TMEM5 and ISPD as a cause of severe cobblestone lissencephaly. Am J Hum Genet (2012) 1.44
Antenatal presentation of Bardet-Biedl syndrome may mimic Meckel syndrome. Am J Hum Genet (2005) 1.43
Molecular screening of SHH, ZIC2, SIX3, and TGIF genes in patients with features of holoprosencephaly spectrum: Mutation review and genotype-phenotype correlations. Hum Mutat (2004) 1.41
PIK3R1 mutations cause syndromic insulin resistance with lipoatrophy. Am J Hum Genet (2013) 1.33
Hereditary optic neuropathies share a common mitochondrial coupling defect. Ann Neurol (2008) 1.33
Novel TMEM67 mutations and genotype-phenotype correlates in meckelin-related ciliopathies. Hum Mutat (2010) 1.32
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. Hum Mutat (2009) 1.28
Neuropathological phenotype of a distinct form of lissencephaly associated with mutations in TUBA1A. Brain (2008) 1.26
The full spectrum of holoprosencephaly-associated mutations within the ZIC2 gene in humans predicts loss-of-function as the predominant disease mechanism. Hum Mutat (2009) 1.23
Current recommendations for the molecular evaluation of newly diagnosed holoprosencephaly patients. Am J Med Genet C Semin Med Genet (2010) 1.23
Cryptic genomic imbalances in de novo and inherited apparently balanced chromosomal rearrangements: array CGH study of 47 unrelated cases. Eur J Med Genet (2009) 1.22
Comparison of clinical presentations and outcomes between patients with TGFBR2 and FBN1 mutations in Marfan syndrome and related disorders. Circulation (2009) 1.21
Clinical and molecular characterization of 17q21.31 microdeletion syndrome in 14 French patients with mental retardation. Eur J Med Genet (2010) 1.21
Molecular characterization of 1q44 microdeletion in 11 patients reveals three candidate genes for intellectual disability and seizures. Am J Med Genet A (2012) 1.21
Molecular screening of ALK1/ACVRL1 and ENG genes in hereditary hemorrhagic telangiectasia in France. Hum Mutat (2004) 1.21
Phenotypic spectrum of STRA6 mutations: from Matthew-Wood syndrome to non-lethal anophthalmia. Hum Mutat (2009) 1.20
Twelve new patients with 13q deletion syndrome: genotype-phenotype analyses in progress. Eur J Med Genet (2008) 1.19
GJB2 and GJB6 mutations: genotypic and phenotypic correlations in a large cohort of hearing-impaired patients. Arch Otolaryngol Head Neck Surg (2005) 1.19
X-linked Opitz syndrome: novel mutations in the MID1 gene and redefinition of the clinical spectrum. Am J Med Genet A (2003) 1.18
OPA1 R445H mutation in optic atrophy associated with sensorineural deafness. Ann Neurol (2005) 1.18
Cobblestone lissencephaly: neuropathological subtypes and correlations with genes of dystroglycanopathies. Brain (2012) 1.17
Non-USH2A mutations in USH2 patients. Hum Mutat (2012) 1.17
Functional characterization of sonic hedgehog mutations associated with holoprosencephaly. J Biol Chem (2004) 1.16
Mutations in the nebulin gene can cause severe congenital nemaline myopathy. Neuromuscul Disord (2002) 1.15
Molecular evaluation of foetuses with holoprosencephaly shows high incidence of microdeletions in the HPE genes. Hum Genet (2005) 1.14
Molecular and clinical characterization of 25 individuals with exonic deletions of NRXN1 and comprehensive review of the literature. Am J Med Genet B Neuropsychiatr Genet (2013) 1.13
New insights into the pathogenesis of Beckwith-Wiedemann and Silver-Russell syndromes: contribution of small copy number variations to 11p15 imprinting defects. Hum Mutat (2011) 1.11
Genotype-phenotype correlation in four 15q24 deleted patients identified by array-CGH. Am J Med Genet A (2009) 1.10
Mutations in ZIC2 in human holoprosencephaly: description of a novel ZIC2 specific phenotype and comprehensive analysis of 157 individuals. J Med Genet (2009) 1.10
Whole-body post-mortem computed tomography compared with autopsy in the investigation of unexpected death in infants and children. Eur Radiol (2012) 1.09
Phenotypic and molecular variability of the holoprosencephalic spectrum. Am J Med Genet A (2004) 1.09
The incidence of Rett syndrome in France. Pediatr Neurol (2006) 1.09
Novel TBX3 mutation data in families with ulnar-mammary syndrome indicate a genotype-phenotype relationship: mutations that do not disrupt the T-domain are associated with less severe limb defects. Eur J Med Genet (2005) 1.08
Rationale and design of a randomized clinical trial (Marfan Sartan) of angiotensin II receptor blocker therapy versus placebo in individuals with Marfan syndrome. Arch Cardiovasc Dis (2010) 1.08
Midline defects in deletion 18p syndrome: clinical and molecular characterization of three patients. Clin Dysmorphol (2007) 1.07
Mutations in CNTNAP1 and ADCY6 are responsible for severe arthrogryposis multiplex congenita with axoglial defects. Hum Mol Genet (2013) 1.06
Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations. Am J Med Genet A (2005) 1.04
New findings for phenotype-genotype correlations in a large European series of holoprosencephaly cases. J Med Genet (2011) 1.04
Molecular screening of the TGIF gene in holoprosencephaly: identification of two novel mutations. Hum Genet (2002) 1.02