Updated international tuberous sclerosis complex diagnostic criteria and surveillance and management recommendations H Northrup, ME Aronow, EM Bebin, J Bissler, TN Darling, PJ de Vries, ... Pediatric Neurology 123, 50-66, 2021 | 320 | 2021 |
A PCR-based test suitable for screening for fragile X syndrome among mentally retarded males LA Haddad, RC Mingroni-Netto, AM Vianna-Morgante, SDJ Pena Human genetics 97, 808-812, 1996 | 93 | 1996 |
Pam and its ortholog highwire interact with and may negatively regulate the TSC1· TSC2 complex V Murthy, S Han, RL Beauchamp, N Smith, LA Haddad, N Ito, V Ramesh Journal of Biological Chemistry 279 (2), 1351-1358, 2004 | 90 | 2004 |
The TSC1 tumor suppressor hamartin interacts with neurofilament-L and possibly functions as a novel integrator of the neuronal cytoskeleton LA Haddad, N Smith, M Bowser, Y Niida, V Murthy, C Gonzalez-Agosti, ... Journal of Biological Chemistry 277 (46), 44180-44186, 2002 | 88 | 2002 |
Mesenchymal bone marrow stem cells within polyglycolic acid tube observed in vivo after six weeks enhance facial nerve regeneration HJZR Costa, RF Bento, R Salomone, D Azzi-Nogueira, DB Zanatta, ... Brain research 1510, 10-21, 2013 | 69 | 2013 |
Bone marrow stem cells in facial nerve regeneration from isolated stumps R Salomone, RF Bento, HJZR Costa, D Azzi‐Nogueira, PC Ovando, ... Muscle & Nerve 48 (3), 423-429, 2013 | 50 | 2013 |
Similarities and differences in the subcellular localization of hamartin and tuberin in the kidney V Murthy, LA Haddad, N Smith, D Pinney, R Tyszkowski, D Brown, ... American Journal of Physiology-Renal Physiology 278 (5), F737-F746, 2000 | 48 | 2000 |
Stem Cells from Human Exfoliated Deciduous Teeth (SHED) Differentiate in vivo and Promote Facial Nerve Regeneration LV Pereira, RF Bento, DB Cruz, C Marchi, R Salomone, J Oiticicca, ... Cell Transplantation 28 (1), 55-64, 2019 | 45 | 2019 |
Microsatellite instability in tumors as a model to study the process of microsatellite mutations R Sturzeneker, RAU Bevilacqua, LA Haddad, AJG Simpson, SDJ Pena Human molecular genetics 9 (3), 347-352, 2000 | 44 | 2000 |
Fully mutated and gray‐zone FRAXA alleles in Brazilian mentally retarded boys LA Haddad, MJB Aguiar, SS Costa, RC Mingroni‐Netto, ... American journal of medical genetics 84 (3), 198-201, 1999 | 41 | 1999 |
Developmental expression of the tuberous sclerosis proteins tuberin and hamartin V Murthy, AO Stemmer-Rachamimov, LA Haddad, JE Roy, AN Cutone, ... Acta neuropathologica 101, 202-210, 2001 | 35 | 2001 |
Understanding human DNA variants affecting pre-mRNA splicing in the NGS era LG Dufner-Almeida, RT do Carmo, C Masotti, LA Haddad Advances in genetics 103, 39-90, 2019 | 31 | 2019 |
Polarity of mutations in tumor-associated microsatellite instability R Sturzeneker, LA Haddad, RAU Bevilacqua, AJG Simpson, SDJ Pena Human genetics 102, 231-235, 1998 | 23 | 1998 |
The number of CGG repeats of the FMR1 locus in premutated and fully mutated heterozygotes and their offspring: implications for the origin of mosaicism RC Mingroni‐Netto, LA Haddad, AM Vianna‐Morgante American journal of medical genetics 64 (2), 270-273, 1996 | 22 | 1996 |
A cell junctional protein network associated with connexin-26 AC Batissoco, R Salazar-Silva, J Oiticica, RF Bento, RC Mingroni-Netto, ... International journal of molecular sciences 19 (9), 2535, 2018 | 20 | 2018 |
Retention of progenitor cell phenotype in otospheres from guinea pig and mouse cochlea J Oiticica, LCM Barboza-Junior, AC Batissoco, K Lezirovitz, ... Journal of Translational Medicine 8, 1-10, 2010 | 20 | 2010 |
Simultaneous detection of size and sequence polymorphisms in the transcribed trinucleotide repeat D2S196E (EST00493) LA Haddad, AK Fuzikawa, SDJ Pena Human genetics 99, 796-800, 1997 | 16 | 1997 |
FMRP ribonucleoprotein complexes and RNA homeostasis GAM Suardi, LA Haddad Advances in Genetics 105, 95-136, 2020 | 12 | 2020 |
Transplantation and survival of mouse inner ear progenitor/stem cells in the organ of Corti after cochleostomy of hearing-impaired guinea pigs: preliminary results LCM Barboza Jr, K Lezirovitz, DB Zanatta, BE Strauss, RC Mingroni-Netto, ... Brazilian Journal of Medical and Biological Research 49, e5064, 2016 | 12 | 2016 |
CAT repeat polymorphism in a human expressed sequence tag (EST00444)(D1 3S308) LA Haddad, SDJ Pena Human molecular genetics 2 (10), 1748-1748, 1993 | 12 | 1993 |