Prenatal diagnosis of trisomy 17 mosaicism.

Mosaic trisomy 17: variable clinical and cytogenetic presentation. Am J Med Genet A (2011) 0.87

Follow-up of a child with trisomy 17 mosaicism. Prenat Diagn (2008) 0.78

Deletion of chromosome 17 as a novel cytogenetic finding in chronic neutrophilic leukemia: A case report. Oncol Lett (2013) 0.77

Rare case of live born with confirmed mosaic trisomy 17 and review of the literature. Clin Case Rep (2016) 0.75

X-linked mental retardation and autism are associated with a mutation in the NLGN4 gene, a member of the neuroligin family. Am J Hum Genet (2004) 5.15

Duplication of the MECP2 region is a frequent cause of severe mental retardation and progressive neurological symptoms in males. Am J Hum Genet (2005) 3.87

Chromosome instability is common in human cleavage-stage embryos. Nat Med (2009) 3.85

Mutations in the JARID1C gene, which is involved in transcriptional regulation and chromatin remodeling, cause X-linked mental retardation. Am J Hum Genet (2004) 2.99

Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nat Genet (2002) 2.86

Germline loss-of-function mutations in SPRED1 cause a neurofibromatosis 1-like phenotype. Nat Genet (2007) 2.55

Submicroscopic chromosomal imbalances detected by array-CGH are a frequent cause of congenital heart defects in selected patients. Eur Heart J (2007) 2.39

Zinc metalloproteinase, ZMPSTE24, is mutated in mandibuloacral dysplasia. Hum Mol Genet (2003) 2.36

Loss-of-function mutations in euchromatin histone methyl transferase 1 (EHMT1) cause the 9q34 subtelomeric deletion syndrome. Am J Hum Genet (2006) 2.31

ARX, a novel Prd-class-homeobox gene highly expressed in the telencephalon, is mutated in X-linked mental retardation. Hum Mol Genet (2002) 2.30

Large spectrum of lissencephaly and pachygyria phenotypes resulting from de novo missense mutations in tubulin alpha 1A (TUBA1A). Hum Mutat (2007) 2.24

Mutations in the transcription factor gene SOX18 underlie recessive and dominant forms of hypotrichosis-lymphedema-telangiectasia. Am J Hum Genet (2003) 2.10

Molecular karyotyping: array CGH quality criteria for constitutional genetic diagnosis. J Histochem Cytochem (2005) 2.05

Protein-truncating mutations in ASPM cause variable reduction in brain size. Am J Hum Genet (2003) 1.89

Cohen syndrome is caused by mutations in a novel gene, COH1, encoding a transmembrane protein with a presumed role in vesicle-mediated sorting and intracellular protein transport. Am J Hum Genet (2003) 1.83

Nonrecurrent MECP2 duplications mediated by genomic architecture-driven DNA breaks and break-induced replication repair. Genome Res (2008) 1.81

Submicroscopic duplications of the hydroxysteroid dehydrogenase HSD17B10 and the E3 ubiquitin ligase HUWE1 are associated with mental retardation. Am J Hum Genet (2008) 1.80

Detection of genomic copy number changes in patients with idiopathic mental retardation by high-resolution X-array-CGH: important role for increased gene dosage of XLMR genes. Hum Mutat (2007) 1.79

Mutations in the X-linked cyclin-dependent kinase-like 5 (CDKL5/STK9) gene are associated with severe neurodevelopmental retardation. Am J Hum Genet (2004) 1.78

Single-cell chromosomal imbalances detection by array CGH. Nucleic Acids Res (2006) 1.78

Heterozygous missense mutations in SMARCA2 cause Nicolaides-Baraitser syndrome. Nat Genet (2012) 1.70

FOXL2 and BPES: mutational hotspots, phenotypic variability, and revision of the genotype-phenotype correlation. Am J Hum Genet (2003) 1.70

De novo mutations in the actin genes ACTB and ACTG1 cause Baraitser-Winter syndrome. Nat Genet (2012) 1.70

Prader-Willi syndrome: causes of death in an international series of 27 cases. Am J Med Genet A (2004) 1.69

Mutation frequencies of X-linked mental retardation genes in families from the EuroMRX consortium. Hum Mutat (2007) 1.68

Mutations in the polyglutamine binding protein 1 gene cause X-linked mental retardation. Nat Genet (2003) 1.61

Current consequences of prenatal diagnosis of congenital diaphragmatic hernia. J Pediatr Surg (2006) 1.60

High prevalence of SLC6A8 deficiency in X-linked mental retardation. Am J Hum Genet (2004) 1.55

Fetal body volume: use at MR imaging to quantify relative lung volume in fetuses suspected of having pulmonary hypoplasia. Radiology (2006) 1.53

Definition of a critical region on chromosome 18 for congenital aural atresia by arrayCGH. Am J Hum Genet (2003) 1.52

Mutations in the ZNF41 gene are associated with cognitive deficits: identification of a new candidate for X-linked mental retardation. Am J Hum Genet (2003) 1.52

Screening for FMR-1 premutations in 122 older Flemish males presenting with ataxia. Eur J Hum Genet (2005) 1.49

Transcription factor SOX3 is involved in X-linked mental retardation with growth hormone deficiency. Am J Hum Genet (2002) 1.45

CALL interrupted in a patient with non-specific mental retardation: gene dosage-dependent alteration of murine brain development and behavior. Hum Mol Genet (2003) 1.43

Novel MYH11 and ACTA2 mutations reveal a role for enhanced TGFβ signaling in FTAAD. Int J Cardiol (2011) 1.41

MLL2 mutation spectrum in 45 patients with Kabuki syndrome. Hum Mutat (2010) 1.41

The genetic basis of the Pierre Robin Sequence. Cleft Palate Craniofac J (2006) 1.40

Evidence for increased SOX3 dosage as a risk factor for X-linked hypopituitarism and neural tube defects. Am J Med Genet A (2014) 1.39

Chromosome bands and ends revisited. Am J Med Genet A (2003) 1.39

Large deletions of the APC gene in 15% of mutation-negative patients with classical polyposis (FAP): a Belgian study. Hum Mutat (2005) 1.39

ZNF674: a new kruppel-associated box-containing zinc-finger gene involved in nonsyndromic X-linked mental retardation. Am J Hum Genet (2005) 1.38

Pericardial effusion in the first trimester of pregnancy. Prenat Diagn (2011) 1.38

Deletion of VCX-A due to NAHR plays a major role in the occurrence of mental retardation in patients with X-linked ichthyosis. Hum Mol Genet (2005) 1.37

Angelman syndrome (AS, MIM 105830). Eur J Hum Genet (2009) 1.35

A molecular and clinical study of Larsen syndrome caused by mutations in FLNB. J Med Genet (2006) 1.34

Genetic and phenotypic heterogeneity in patients with mandibuloacral dysplasia-associated lipodystrophy. J Clin Endocrinol Metab (2003) 1.33

Carrier testing in minors: a systematic review of guidelines and position papers. Eur J Hum Genet (2006) 1.31

Delineation of Cohen syndrome following a large-scale genotype-phenotype screen. Am J Hum Genet (2004) 1.31

Nonsyndromic X-linked mental retardation: where are the missing mutations? Trends Genet (2003) 1.30

Pfeiffer syndrome. Orphanet J Rare Dis (2006) 1.30

Mutations in the FTSJ1 gene coding for a novel S-adenosylmethionine-binding protein cause nonsyndromic X-linked mental retardation. Am J Hum Genet (2004) 1.29

The C20orf133 gene is disrupted in a patient with Kabuki syndrome. J Med Genet (2007) 1.28

Novel JARID1C/SMCX mutations in patients with X-linked mental retardation. Hum Mutat (2006) 1.26

Mutations in NOTCH2 in families with Hajdu-Cheney syndrome. Hum Mutat (2011) 1.25

Contiguous gene deletion within chromosome arm 10q is associated with juvenile polyposis of infancy, reflecting cooperation between the BMPR1A and PTEN tumor-suppressor genes. Am J Hum Genet (2006) 1.24

FACL4, encoding fatty acid-CoA ligase 4, is mutated in nonspecific X-linked mental retardation. Nat Genet (2002) 1.23

Dominant renin gene mutations associated with early-onset hyperuricemia, anemia, and chronic kidney failure. Am J Hum Genet (2009) 1.21

Early motor development in young children with 22q.11 deletion syndrome and a conotruncal heart defect. Dev Med Child Neurol (2005) 1.17

Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome. Eur J Med Genet (2009) 1.13

Breakage-fusion-bridge cycles leading to inv dup del occur in human cleavage stage embryos. Hum Mutat (2011) 1.12

Phenotype and 244k array-CGH characterization of chromosome 13q deletions: an update of the phenotypic map of 13q21.1-qter. Am J Med Genet A (2009) 1.12

Dosage-dependent severity of the phenotype in patients with mental retardation due to a recurrent copy-number gain at Xq28 mediated by an unusual recombination. Am J Hum Genet (2009) 1.11

Cobalamin disorder Cbl-C presenting with late-onset thrombotic microangiopathy. Am J Med Genet (2002) 1.11

Parental insertional balanced translocations are an important cause of apparently de novo CNVs in patients with developmental anomalies. Eur J Hum Genet (2011) 1.11

Manitoba-oculo-tricho-anal (MOTA) syndrome is caused by mutations in FREM1. J Med Genet (2011) 1.11

The causality of de novo copy number variants is overestimated. Eur J Hum Genet (2011) 1.10

Disruptions of the novel KIAA1202 gene are associated with X-linked mental retardation. Hum Genet (2005) 1.10

The complexity of reproductive decision-making in asymptomatic carriers of the Huntington mutation. Eur J Hum Genet (2007) 1.10

What next for preimplantation genetic screening? High mitotic chromosome instability rate provides the biological basis for the low success rate. Hum Reprod (2009) 1.08

Subtelomeric imbalances in phenotypically normal individuals. Hum Mutat (2007) 1.07

Phenotypic and molecular characterisation of the Aarskog-Scott syndrome: a survey of the clinical variability in light of FGD1 mutation analysis in 46 patients. Eur J Hum Genet (2004) 1.07

Narrowing the critical deletion region for autism spectrum disorders on 16p11.2. Am J Med Genet B Neuropsychiatr Genet (2011) 1.06

Diagnosis of miscarriages by molecular karyotyping: benefits and pitfalls. Genet Med (2009) 1.06

Identification and characterization of the TRIP8 and REEP3 genes on chromosome 10q21.3 as novel candidate genes for autism. Eur J Hum Genet (2007) 1.06

A novel mutation in the DLG3 gene encoding the synapse-associated protein 102 (SAP102) causes non-syndromic mental retardation. Neurogenetics (2009) 1.04

Lujan-Fryns syndrome (mental retardation, X-linked, marfanoid habitus). Orphanet J Rare Dis (2006) 1.03

The East Flanders Prospective Twin Survey (EFPTS). Twin Res Hum Genet (2006) 1.02

Townes-Brocks syndrome: twenty novel SALL1 mutations in sporadic and familial cases and refinement of the SALL1 hot spot region. Hum Mutat (2007) 1.01

Focal segmental glomerulosclerosis in patients with mandibuloacral dysplasia owing to ZMPSTE24 deficiency. J Investig Med (2006) 1.00

In-frame deletion in MECP2 causes mild nonspecific mental retardation. Am J Med Genet (2002) 1.00

MCT8 mutation analysis and identification of the first female with Allan-Herndon-Dudley syndrome due to loss of MCT8 expression. Eur J Hum Genet (2008) 1.00

Encephalopathy and bilateral cataract in a boy with an interstitial deletion of Xp22 comprising the CDKL5 and NHS genes. Am J Med Genet A (2007) 0.97

Recent developments in the genetic factors underlying congenital diaphragmatic hernia. Fetal Diagn Ther (2010) 0.97

Adult monozygotic twins discordant for intra-uterine growth have indistinguishable genome-wide DNA methylation profiles. Genome Biol (2013) 0.97

Interstitial 6q deletion: clinical and array CGH characterisation of a new patient. Eur J Med Genet (2005) 0.97

Trisomy of chromosome 16p13.3 due to an unbalanced insertional translocation into chromosome 22p13. Eur J Med Genet (2005) 0.96

Pervasive developmental disorders in Prader-Willi syndrome: the Leuven experience in 59 subjects and controls. Am J Med Genet A (2006) 0.96

Intertwin anastomoses in monochorionic placentas after fetoscopic laser coagulation for twin-to-twin transfusion syndrome: is there more than meets the eye? Am J Obstet Gynecol (2006) 0.95

Tetrasomy 12pter-12p13.31 in a girl with partial Pallister-Killian syndrome phenotype. Eur J Med Genet (2005) 0.95

CHRNG genotype-phenotype correlations in the multiple pterygium syndromes. J Med Genet (2012) 0.95

Mapping of a new candidate locus for uromodulin-associated kidney disease (UAKD) to chromosome 1q41. Kidney Int (2005) 0.94

Rapid prenatal diagnosis of trisomy 21 in 5049 consecutive uncultured amniotic fluid samples by fluorescence in situ hybridisation (FISH). Prenat Diagn (2002) 0.93

Genomic rearrangements of the GREM1-FMN1 locus cause oligosyndactyly, radio-ulnar synostosis, hearing loss, renal defects syndrome and Cenani--Lenz-like non-syndromic oligosyndactyly. J Med Genet (2010) 0.93

Loss of SLC38A5 and FTSJ1 at Xp11.23 in three brothers with non-syndromic mental retardation due to a microdeletion in an unstable genomic region. Hum Genet (2007) 0.93

Meiotic errors followed by two parallel postzygotic trisomy rescue events are a frequent cause of constitutional segmental mosaicism. Mol Cytogenet (2012) 0.93

Lung volumes in fetuses with congenital diaphragmatic hernia: comparison of 3D US and MR imaging assessments. Radiology (2007) 0.93

High frequency of submicroscopic chromosomal deletions in patients with idiopathic congenital eye malformations. Am J Ophthalmol (2011) 0.92

No evidence for a parental inversion polymorphism predisposing to rearrangements at 22q11.2 in the DiGeorge/Velocardiofacial syndrome. Eur J Hum Genet (2003) 0.92