Published in Prenat Diagn on June 27, 2011
Mucopolysaccharidosis type II: European recommendations for the diagnosis and multidisciplinary management of a rare disease. Orphanet J Rare Dis (2011) 1.67
Diagnosing Hunter syndrome in pediatric practice: practical considerations and common pitfalls. Eur J Pediatr (2012) 1.26
Mucopolysaccharidosis type III (Sanfilippo syndrome) and misdiagnosis of idiopathic developmental delay, attention deficit/hyperactivity disorder or autism spectrum disorder. Acta Paediatr (2013) 1.22
Prevention of lysosomal storage diseases and derivation of mutant stem cell lines by preimplantation genetic diagnosis. Mol Biol Int (2012) 0.78
Differentiation of Human Pluripotent Stem Cells into Mesodermal and Ectodermal Derivatives Is Independent of the Type of Isogenic Reprogrammed Somatic Cells. Acta Naturae (2017) 0.75
Mutant adenosine deaminase 2 in a polyarteritis nodosa vasculopathy. N Engl J Med (2014) 4.70
Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault Syndrome. Am J Hum Genet (2010) 2.76
Targeted genomic capture and massively parallel sequencing to identify genes for hereditary hearing loss in Middle Eastern families. Genome Biol (2011) 2.62
New ISSCR guidelines underscore major principles for responsible translational stem cell research. Cell Stem Cell (2008) 2.61
Pregnancy after transplantation of cryopreserved ovarian tissue in a patient with ovarian failure after chemotherapy. N Engl J Med (2005) 2.60
Carrier screening for Gaucher disease: lessons for low-penetrance, treatable diseases. JAMA (2007) 2.51
Genome-wide survey reveals predisposing diabetes type 2-related DNA methylation variations in human peripheral blood. Hum Mol Genet (2011) 2.48
Familial clustering of site-specific cancer risks associated with BRCA1 and BRCA2 mutations in the Ashkenazi Jewish population. Proc Natl Acad Sci U S A (2006) 1.99
A dual role for interleukin-1 in hippocampal-dependent memory processes. Psychoneuroendocrinology (2007) 1.77
Pivotal trial with plant cell-expressed recombinant glucocerebrosidase, taliglucerase alfa, a novel enzyme replacement therapy for Gaucher disease. Blood (2011) 1.68
Pilot study using ambroxol as a pharmacological chaperone in type 1 Gaucher disease. Blood Cells Mol Dis (2012) 1.58
Spinal muscular atrophy with pontocerebellar hypoplasia is caused by a mutation in the VRK1 gene. Am J Hum Genet (2009) 1.56
Mutations in LARS2, encoding mitochondrial leucyl-tRNA synthetase, lead to premature ovarian failure and hearing loss in Perrault syndrome. Am J Hum Genet (2013) 1.50
Hemolysis and bilirubin conjugation in association with UDP-glucuronosyltransferase 1A1 promoter polymorphism. Hepatology (2002) 1.49
Temporal gene expression during differentiation of human embryonic stem cells and embryoid bodies. Hum Reprod (2004) 1.49
Low-dose therapy trumps high-dose therapy again in the treatment of Gaucher disease. Blood (2006) 1.47
Mosaic compound heterozygosity of SHOX resulting in Leri-Weill dyschondrosteosis with marked short stature: implications for disease mechanisms and recurrence risks. Am J Med Genet A (2010) 1.43
Dynamic assays of inhibin B, anti-Mullerian hormone and estradiol following FSH stimulation and ovarian ultrasonography as predictors of IVF outcome. Hum Reprod (2005) 1.42
Osteonecrosis in a patient with Gaucher's disease treated with enzyme replacement. Isr Med Assoc J (2003) 1.41
Uveitis in Gaucher disease. Am J Ophthalmol (2005) 1.39
How Many Embryos should be Transferred? The Relevance of Parity and Obstetric History. Isr Med Assoc J (2016) 1.39
Increased incidence of Parkinson disease among relatives of patients with Gaucher disease. Blood Cells Mol Dis (2006) 1.34
Phase 1/2 and extension study of velaglucerase alfa replacement therapy in adults with type 1 Gaucher disease: 48-month experience. Blood (2010) 1.30
Effect of miglustat on bone disease in adults with type 1 Gaucher disease: a pooled analysis of three multinational, open-label studies. Clin Ther (2007) 1.18
Functional and genomic approaches reveal an ancient CHEK2 allele associated with breast cancer in the Ashkenazi Jewish population. Hum Mol Genet (2005) 1.15
Low-dose N-butyldeoxynojirimycin (OGT 918) for type I Gaucher disease. Blood Cells Mol Dis (2002) 1.13
Serum inhibin A, VEGF and TNFalpha levels after triggering oocyte maturation with GnRH agonist compared with HCG in women with polycystic ovaries undergoing IVF treatment: a prospective randomized trial. Hum Reprod (2006) 1.13
Age-related normograms of serum antimüllerian hormone levels in a population of infertile women: a multicenter study. Fertil Steril (2011) 1.12
Serum anti-Mullerian hormone levels during controlled ovarian hyperstimulation in women with polycystic ovaries with and without hyperandrogenism. Hum Reprod (2005) 1.09
Incidence of malignancies among patients with type I Gaucher disease from a single referral clinic. Blood Cells Mol Dis (2005) 1.09
Molecular study of WISP3 in nine families originating from the Middle-East and presenting with progressive pseudorheumatoid dysplasia: identification of two novel mutations, and description of a founder effect. Am J Med Genet A (2005) 1.07
Pediatric Outcome after Maternal Cancer Diagnosed during Pregnancy. N Engl J Med (2016) 1.07
An association study of inflammatory cytokine gene polymorphisms in Fabry disease. Eur Cytokine Netw (2006) 1.07
Nonprecipitous changes upon withdrawal from imiglucerase for Gaucher disease because of a shortage in supply. Blood Cells Mol Dis (2010) 1.05
A pharmacokinetic analysis of a novel enzyme replacement therapy with Gene-Activated human glucocerebrosidase (GA-GCB) in patients with type 1 Gaucher disease. Blood Cells Mol Dis (2007) 1.03
Gaucher disease and the clinical experience with substrate reduction therapy. Philos Trans R Soc Lond B Biol Sci (2003) 1.00
Female sex bias in human embryonic stem cell lines. Stem Cells Dev (2011) 0.99
Collaborative genomics for human health and cooperation in the Mediterranean region. Nat Genet (2010) 0.99
Effect of enzyme replacement therapy on gammopathies in Gaucher disease. Blood Cells Mol Dis (2004) 0.98
Using the International Gaucher Disease Registry data: can we devise a virtuous circle for treated patients? Am J Hematol (2008) 0.98
Orthopedic considerations in Gaucher disease since the advent of enzyme replacement therapy. Acta Orthop Scand (2004) 0.98
XX ovarian dysgenesis is caused by a PSMC3IP/HOP2 mutation that abolishes coactivation of estrogen-driven transcription. Am J Hum Genet (2011) 0.98
Single nucleotide polymorphisms that increase expression of the guanosine triphosphatase RAC1 are associated with ulcerative colitis. Gastroenterology (2011) 0.97
Safety and efficacy of velaglucerase alfa in Gaucher disease type 1 patients previously treated with imiglucerase. Am J Hematol (2013) 0.97
Monitoring the ovaries after autotransplantation of cryopreserved ovarian tissue: endocrine studies, in vitro fertilization cycles, and live birth. Fertil Steril (2006) 0.97
Survey of hematological aspects of Gaucher disease. Hematology (2005) 0.96
Hypertensive disorders of pregnancy and the small for gestational age neonate: not a simple relationship. Am J Obstet Gynecol (2007) 0.95
Enzyme replacement therapy with velaglucerase alfa in Gaucher disease: Results from a randomized, double-blind, multinational, Phase 3 study. Am J Hematol (2013) 0.93
Successful pregnancy and delivery after calcium ionophore oocyte activation in a normozoospermic patient with previous repeated failed fertilization after intracytoplasmic sperm injection. Fertil Steril (2003) 0.92
Similar outcome for cryopreserved embryo transfer following GnRH-antagonist/GnRH-agonist, GnRH-antagonist/HCG or long protocol ovarian stimulation. Reprod Biomed Online (2007) 0.91
PGD on a recombinant allele: crossover between the TSC2 gene and 'linked' markers impairs accurate diagnosis. Prenat Diagn (2008) 0.91
Increased prevalence of cholelithiasis in Gaucher disease: association with splenectomy but not with gilbert syndrome. J Clin Gastroenterol (2004) 0.90
The glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N Engl J Med (2005) 0.90
Subclinical hypothyroidism in infertile women: the importance of continuous monitoring and the role of the thyrotropin-releasing hormone stimulation test. Gynecol Endocrinol (2007) 0.90
The effects of maternal age and parity on maternal and neonatal outcome. Arch Gynecol Obstet (2014) 0.89
Simultaneous preimplantation genetic diagnosis for Tay-Sachs and Gaucher disease. Reprod Biomed Online (2007) 0.89
Preimplantation genetic diagnosis (PGD) for nonsyndromic deafness by polar body and blastomere biopsy. J Assist Reprod Genet (2009) 0.89
Pyrimethamine increases β-hexosaminidase A activity in patients with Late Onset Tay Sachs. Mol Genet Metab (2010) 0.89
Egr-1 upregulates the Alzheimer's disease presenilin-2 gene in neuronal cells. Gene (2003) 0.89
Spectrum of abdominal sonographic findings in 103 pediatric patients with Gaucher disease. Eur Radiol (2001) 0.88
Type I Gaucher disease in children with and without enzyme therapy. Pediatr Hematol Oncol (2002) 0.87
Gaucher disease in Arab patients at an Israeli referral clinic. Isr Med Assoc J (2008) 0.87
Achievement of therapeutic goals with low-dose imiglucerase in Gaucher disease: a single-center experience. Adv Hematol (2013) 0.87
Ovarian hemorrhage after transvaginal ultrasonographically guided oocyte aspiration: a potentially catastrophic and not so rare complication among lean patients with polycystic ovary syndrome. Fertil Steril (2008) 0.87
Bone density changes with enzyme therapy for Gaucher disease. J Bone Miner Metab (2004) 0.86
Primary testicular dysfunction is a major contributor to abnormal pubertal development in males with Prader-Willi syndrome. J Clin Endocrinol Metab (2009) 0.86
BRCA mutation carriers do not have compromised ovarian reserve. Int J Gynecol Cancer (2014) 0.86
Plasma lipids are altered in Gaucher disease: biochemical markers to evaluate therapeutic intervention. Blood Cells Mol Dis (2007) 0.86
Gaucher disease: spectrum of sonographic findings in the liver. J Ultrasound Med (2010) 0.85
A mutation in the nucleoporin-107 gene causes XX gonadal dysgenesis. J Clin Invest (2015) 0.85
Human embryonic stem cells as a powerful tool for studying human embryogenesis. Pediatr Res (2006) 0.85
Effect of vitamin D receptor (VDR) genotypes on the risk for osteoporosis in type 1 Gaucher disease. Clin Rheumatol (2010) 0.85