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Lílian Maria José Albano

Observed names: Albano Lilian M J, Albano, Lilian Maria Jose, Albano,Lilian M. J., Albano,Lilian Maria José, L. Albano, L. M. J. Albano, LMJ Albano, Lilian Albano, Lilian M. J. Albano, Lilian M.J. Albano, Lilian Maria Albano Albano, Lilian Maria José Albano, Lílian Albano, Lílian Maria Albano, Maria José Albano
Observed institutions: Children’s Institute, Universidade de São Paulo, Hospital de Clínicas de Porto Alegre, Hospital Universitário da Universidade de São Paulo, Hospital das Clínicas da Faculdade de Medicina da Universidade de São Paulo, University of Otago
OpenAlex ID: A5109239692
Prenatal exposure to misoprostol and vascular disruption defects: A case-control study
2000 · F.R. Vargas, L. Schuler-Faccini, et al. · American Journal of Medical Genetics · 135
Molecular evidence that AEC syndrome and Rapp–Hodgkin syndrome are variable expression of a single genetic disorder
2004 · DR Bertola, CA Kim, et al. · Clinical Genetics · 59
PTPN11 Gene Analysis in 74 Brazilian Patients with Noonan Syndrome or Noonan-like Phenotype
2006 · Débora R. Bertola, Alexandre C. Pereira, et al. · Genetic Testing · 58
Microduplication of the ICR2 domain at chromosome 11p15 and familial Silver–Russell syndrome
2011 · Adriano Bonaldi, Juliana F. Mazzeu, et al. · American Journal of Medical Genetics Part A · 44
Cockayne syndrome type A: novel mutations in eight typical patients
2006 · Debora R. Bertola, Henian Cao, et al. · Journal of Human Genetics · 40
Hematological findings in Noonan syndrome
2003 · Débora R. Bertola, Jorge David A. Carneiro, et al. · Revista do Hospital das Clínicas · 39
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Further evidence of genetic heterogeneity in Costello syndrome: involvement of the KRAS gene
2007 · Débora Romeo Bertola, Alexandre Costa Pereira, et al. · Journal of Human Genetics · 38
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Cardiac findings in 31 patients with Noonan's syndrome
2000 · Débora Romeo Bertola, Ae Kim Chong, et al. · Arquivos Brasileiros de Cardiologia · 36
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A Known SOST Gene Mutation Causes Sclerosteosis in a Familial and an Isolated Case from Brazilian Origin
2008 · Chong Ae Kim, Rachel Honjo, et al. · Genetic Testing · 32
Craniosynostosis in pycnodysostosis: Broadening the spectrum of the cranial flat bone abnormalities
2010 · Débora Bertola, Cassio Amaral, et al. · American Journal of Medical Genetics Part A · 28
Clinical and laboratorial study of 19 cases of mucopolysaccharidoses
2000 · Lilian M. J. Albano, Sofia S. M. M. Sugayama, et al. · Revista do Hospital das Clínicas · 27
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AEC Syndrome and CHAND Syndrome: Further Evidence of Clinical Overlapping in the Ectodermal Dysplasias
2000 · D. R. Bertola, C. A. Kim, et al. · Pediatric Dermatology · 26
Noonan syndrome: a clinical and genetic study of 31 patients
1999 · Débora Romeo Bertola, Sofia M. M. Sugayama, et al. · Revista do Hospital das Clínicas · 26
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Dental Evaluation of Kabuki Syndrome Patients
2009 · Camila Teixeira, Claudia Silva, et al. · The Cleft Palate-Craniofacial Journal · 23
Phenotypic overlap in Melnick–Needles, serpentine fibula–polycystic kidney and Hajdu–Cheney syndromes: a clinical and molecular study in three patients
2006 · Lilian M.J. Albano, Débora R. Bertola, et al. · Clinical Dysmorphology · 21
Angiokeratoma: a cutaneous marker of Fabry’s disease
2009 · L. M. J. Albano, C. Rivitti, et al. · Clinical and Experimental Dermatology · 20
Friedreich's Ataxia: Cardiac Evaluation of 25 Patients with Clinical Diagnosis and Literature Review
2002 · Lilian Maria José Albano, Silvana Angelina Dório Nishioka, et al. · Arquivos Brasileiros de Cardiologia · 20
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MLPA analysis in 30 Sotos syndrome patients revealed one total NSD1 deletion and two partial deletions not previously reported
2009 · Claudia Fagali, Fernando Kok, et al. · European Journal of Medical Genetics · 16
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Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis
2004 · Lilian Maria José Albano, Paula Priscila Ohara Sakae, et al. · Revista do Hospital das Clínicas · 13
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Mucopolysaccharidosis type I, II and VI and response to enzyme replacement therapy: Results from a single-center case series study
2017 · José Francisco da Silva Franco, Regina El Dib, et al. · Intractable & Rare Diseases Research · 12
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Assessment of Intellectual and Visuo-Spatial Abilities in Children and Adults with Williams Syndrome
2013 · Michele Moreira Mika, M. Nunes, et al. · Universitas Psychologica · 8
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A clinical follow-up of 35 Brazilian patients with Prader-Willi Syndrome
2012 · Caio Robledo D'Angioli Costa Quaio, Tatiana Ferreira de Almeida, et al. · Clinics · 8
Clinical and radiological aspects in Melnick-Needles syndrome
1999 · Lilian M. J. Albano, A. Kim Chong, et al. · Revista do Hospital das Clínicas · 8
Friedreich's ataxia: clinical and molecular study of 25 Brazilian cases
2001 · Lilian M. J. Albano, Mayana Zatz, et al. · Revista do Hospital das Clínicas · 7
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Omodysplasia: the First Reported Brazilian Case
2007 · Lílian Maria Albano, Luiz A.N. Oliveira, et al. · Clinics · 6
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Works count: 53
Citation count: 778
H-index: 17
I10-index: 20
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