Published in Am J Med Genet on December 01, 1992
Hypothalamo-pituitary insufficiency associated with ectrodactyly-ectodermal dysplasia-clefting syndrome. J Clin Res Pediatr Endocrinol (2009) 0.77
Familial clustering of a rare syndrome. Indian J Hum Genet (2011) 0.77
Prostate specific antigen decrease and prostate cancer diagnosis: antibiotic versus placebo prospective randomized clinical trial. J Urol (2010) 2.76
Mutations in the homeodomain of the human SIX3 gene cause holoprosencephaly. Nat Genet (1999) 2.57
Mutations in TGIF cause holoprosencephaly and link NODAL signalling to human neural axis determination. Nat Genet (2000) 2.53
Mutations of PVRL1, encoding a cell-cell adhesion molecule/herpesvirus receptor, in cleft lip/palate-ectodermal dysplasia. Nat Genet (2000) 2.39
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation and CNS structural anomalies: defining the phenotype. Clin Dysmorphol (2001) 1.64
Postaxial acrofacial dysostosis: report on two patients. Am J Med Genet (1992) 1.62
Ectrodactyly, cleft lip/palate syndrome. Am J Med Genet (1991) 1.54
High mutation detection rate in TCOF1 among Treacher Collins syndrome patients reveals clustering of mutations and 16 novel pathogenic changes. Hum Mutat (2000) 1.51
[Does the criterion for prostate biopsy indication impact its accuracy? A prospective population-based outpatient clinical setting study]. Actas Urol Esp (2011) 1.49
Pharmacological characterization of kinin-induced relaxation of human corpus cavernosum. Br J Urol (1998) 1.44
Possible new syndrome: Left ventricular noncompaction, partial agenesis of the corpus callosum, and developmental delay in a Brazilian child. Am J Med Genet A (2009) 1.39
EEC syndrome: report on 20 new patients, clinical and genetic considerations. Am J Med Genet (1990) 1.36
TBX22 mutations are a frequent cause of cleft palate. J Med Genet (2004) 1.30
Craniofrontonasal syndrome: study of 41 patients. Am J Med Genet (1996) 1.10
Marden-Walker-like syndrome without psychomotor retardation: report of a Brazilian girl born to consanguineous parents. Am J Med Genet (1992) 1.09
Erectile dysfunction and hormonal imbalance in morbidly obese male is reversed after gastric bypass surgery: a prospective randomized controlled trial. Int J Androl (2009) 1.09
Brief clinical report: duplication of distal 17q: report of an observation. Am J Med Genet (1984) 1.03
Brief clinical report: syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a Brazilian family. Am J Med Genet (1983) 0.98
Aarskog syndrome in a Brazilian boy born to consanguineous parents. Am J Med Genet (1992) 0.96
Is percutaneous monotherapy for staghorn calculus still indicated in the era of extracorporeal shockwave lithotripsy? J Endourol (1994) 0.96
Cleft lip/palate, abnormal ears, ectrodactyly, congenital heart defect, and growth retardation: definition of the acro-cardio-facial syndrome. Clin Dysmorphol (2000) 0.94
Hypertelorism: interorbital growth, measurements, and pathogenetic considerations. Int J Oral Maxillofac Surg (1995) 0.94
Recurrent 22q11.2 deletion in a sibship suggestive of parental germline mosaicism in velocardiofacial syndrome. Clin Genet (2002) 0.94
Acheiropodia: report on four new Brazilian patients. Am J Med Genet (1990) 0.94
Frontonasal dysplasia: analysis of 21 cases and literature review. Int J Oral Maxillofac Surg (1996) 0.93
Chronic GVHD in minor salivary glands and oral mucosa: histopathological and immunohistochemical evaluation of 25 patients. J Oral Pathol Med (2005) 0.93
Silicone versus nonsilicone gel dressings: a controlled trial. Dermatol Surg (2001) 0.92
Michels syndrome in a Brazilian girl born to consanguineous parents. Am J Med Genet (1995) 0.91
Pfeiffer mutation in an Apert patient: how wide is the spectrum of variability due to mutations in the FGFR2 gene? Am J Med Genet (1997) 0.91
Autosomal recessive ectodermal dysplasia, cleft lip/palate, mental retardation, and syndactyly: the Zlotogora-Ogur syndrome. Am J Med Genet (1990) 0.91
Deletion of the short arm of chromosome 20. Clin Genet (1987) 0.91
Brief clinical report: autosomal recessive anophthalmia with multiple congenital abnormalities--type Waardenburg. Am J Med Genet (1983) 0.89
Autosomal dominant late adult spinal muscular atrophy, type Finkel. Am J Med Genet (1981) 0.86
Diagnostic value of combining immunostaining for CD3 and nuclear morphometry in mycosis fungoides. J Clin Pathol (2007) 0.86
Comparative study of the fertility potential of men with only one testis. Scand J Urol Nephrol (1991) 0.86
Partial monosomy 13 and 21 due to a familial 13/21 translocation. Hum Genet (1978) 0.86
The value of PCNA and AgNOR staining in endoscopic biopsies of gastric mucosa. Pathol Res Pract (1998) 0.85
Variable expressivity of the acheiropodia gene. Am J Med Genet (1983) 0.85
The insulin tolerance test in morbidly obese patients undergoing bariatric surgery. Obes Res (2001) 0.85
Callosal agenesis, iris coloboma, and megacolon in a Brazilian boy with Rubinstein-Taybi syndrome. Am J Med Genet (1992) 0.84
Serum leptin levels after bariatric surgery across a range of glucose tolerance from normal to diabetes. Obes Surg (2001) 0.84
Cognitive deficit, learning difficulties, severe behavioral abnormalities and healed cleft lip in a patient with a 1.2-mb distal microduplication at 22q11.2. Mol Syndromol (2013) 0.83
Congenital diverticulum of male urethra. Urology (1984) 0.83
A study of familial stuttering. Am J Med Genet A (2006) 0.83
Clinical variability in cerebro-oculo-nasal syndrome: report on two additional cases. Clin Dysmorphol (2000) 0.83
Cerebral atrophy related to corticotherapy in systemic lupus erythematosus (SLE). Clin Rheumatol (2001) 0.82
Pai syndrome: report of seven South American patients. Am J Med Genet A (2007) 0.82
Tetrasomy 18p: tentative delineation of a syndrome. J Med Genet (1983) 0.82
Bone mineral density, vitamin D and anticonvulsant therapy. Arq Neuropsiquiatr (2000) 0.82
Acrocallosal syndrome: report of a Brazilian girl. Am J Med Genet (1992) 0.82
Presence of the Apert canonical S252W FGFR2 mutation in a patient without severe syndactyly. J Med Genet (1998) 0.81
Clinical findings in patients with GLI2 mutations--phenotypic variability. Clin Genet (2011) 0.81
Steroid hormone receptors, matrix metalloproteinases, insulin-like growth factor, and dystroglycans interactions in prostatic diseases in the elderly men. Microsc Res Tech (2012) 0.81
Determination of the frequency of the 35delG allele in Brazilian neonates. Clin Genet (2000) 0.80
Oculo-auriculo-vertebral complex and uncommon associated anomalies: report on 8 unrelated Brazilian patients. Am J Med Genet (1992) 0.80
Endourological management of ureteral strictures. J Urol (1990) 0.80
Prostate elastosis: a microscopic feature useful for the diagnosis of postatrophic hyperplasia. Arch Pathol Lab Med (2000) 0.79
Acid suppression with ranitidine plus oral triple therapy improves ulcer healing but not Helicobacter pylori eradication. Hepatogastroenterology (1999) 0.79
Cerebrofaciothoracic syndrome. Am J Med Genet (1996) 0.79
CNS midline anomalies in the Opitz G/BBB syndrome: report on 12 Brazilian patients. Am J Med Genet (1992) 0.79
Relationship between HLA antigens and infectious agents in contributing towards the development of Graves' disease. Immunol Invest (1998) 0.79
Frontonasal dysplasia, macroblepharon, eyelid colobomas, ear anomalies, macrostomia, mental retardation, and CNS structural anomalies. A new syndrome? Clin Dysmorphol (1999) 0.78
N-acetylcysteine in the prevention of cyclophosphamide induced haemorrhagic cystitis. Int Surg (1986) 0.78
Subureteric lipoinjection for vesicoureteral reflux in renal transplant candidates. Urology (1994) 0.78
Is routine dilation of the ureter necessary for ureteroscopy? Eur Urol (1990) 0.77
Description of a new mutation and characterization of FGFR1, FGFR2, and FGFR3 mutations among Brazilian patients with syndromic craniosynostoses. Am J Med Genet (1998) 0.77
Word-finding difficulties, verbal paraphasias, and verbal dyspraxia in ten individuals with fragile X syndrome. Am J Med Genet (1995) 0.77
Amniotic bands and the EEC syndrome. Birth Defects Orig Artic Ser (1996) 0.77
New syndrome of growth and mental retardation, structural anomalies of the central nervous system, and first branchial arch, anophthalmia, heminasal a/hypoplasia, and atypical clefting: report on four Brazilian patients. Am J Med Genet (1999) 0.77
Development of donor-specific microchimerism in liver transplant recipient with HLA-DRB1 and -DQB1 mismatch related to rejection episodes. Transplant Proc (2004) 0.77
Oral or intravesical bacillus Calmette-Guerin immunoprophylaxis in bladder carcinoma. J Urol (1991) 0.77
Hepatitis E virus immunoglobulin G antibodies in different populations in Campinas, Brazil. Clin Diagn Lab Immunol (2000) 0.77
Effects of extracorporeal shockwave lithotripsy on renal growth and function: an animal model. J Endourol (1994) 0.77
Frequency of the 35delG mutation in the GJB2 gene in samples of European, Asian, and African Brazilians. Hum Biol (2004) 0.77
Traumatic rupture of female urethra. Urology (1983) 0.77
Laryngeal microweb and vocal nodules. Clinical study in a Brazilian population. Folia Phoniatr Logop (2006) 0.77
Extracorporeal shock-wave lithotripsy in children. Urology (1995) 0.77
"New" autosomal-dominant infantile sensorineural non-progressive high-frequency hearing loss: report on a Brazilian family. Am J Med Genet (2000) 0.76
Genetic variation and relationships at six VNTR loci in two distinct sample populations in Brazil. Ann Hum Biol (2005) 0.76
Identity by descent and candidate gene mapping of Richieri-Costa and Pereira syndrome. Am J Med Genet A (2003) 0.76
Prospective analysis between the therapy of immunosuppressive medication and allogeneic microchimerism after liver transplantation. Transpl Immunol (2008) 0.76
Absolute ethanol and 5% ethanolamine oleate are comparable for sclerotherapy of esophageal varices. Gastrointest Endosc (2000) 0.76
Theophylline therapy inhibits neutrophil and mononuclear cell chemotaxis from chronic asthmatic children. Br J Clin Pharmacol (1991) 0.76
Acrofrontofacionasal dysostosis: report of the third Brazilian family. Am J Med Genet A (2003) 0.76
Newly recognized blepharofacioskeletal syndrome. Am J Med Genet (1993) 0.76
Urethral pseudolipoma: a complication of periurethral lipo-injection for stress urinary incontinence in a woman. J Urol (1996) 0.76
Late infantile autosomal recessive myotonia, mental retardation, and skeletal abnormalities: a new autosomal recessive syndrome. J Med Genet (1984) 0.75
Blepharo-Cheilo-Dontic (BCD) syndrome: report on four new patients. Am J Med Genet (1998) 0.75
Ectodermal dysplasia, ectrodactyly, clefting, anophthalmia/microphthalmia, and genitourinary anomalies: nosology of Goltz-Gorlin syndrome versus EEC syndrome. Am J Med Genet (1992) 0.75
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome? Am J Med Genet (1985) 0.75
Rapp-Hodgkin syndrome: report of a Brazilian family. Am J Med Genet (1990) 0.75
Atrichia, abnormal EEG, epilepsy and mental retardation in two sisters. Hum Hered (1979) 0.75
Autosomal recessive blepharoptosis, cleft lip/palate, dental anomalies, and ectrodactyly. Am J Med Genet (1992) 0.75
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: another affected Brazilian patient born to consanguineous parents. Am J Med Genet (1997) 0.75
Cleft palate-lateral synechiae syndrome: report on three new patients with additional findings and evidence for variability and heterogeneity. Am J Med Genet (1993) 0.75
Multiple congenital anomalies syndrome: growth and mental retardation, microcephaly, preauricular skin tags, cleft palate, camptodactyly, and distal limb anomalies. Report on two unrelated Brazilian patients. Am J Med Genet (1999) 0.75
New autosomal recessive syndrome of progressive sensorineural hearing loss and cataracts: report on two Brazilian patients. Am J Med Genet (1997) 0.75