Results 231 to 240 of about 87,727 (384)

Mapping the risk of Zika virus infections in pregnant persons and microcephaly in newborns in relation to socioeconomic indicators in Recife, Pernambuco, Brazil: A spatial analysis (2015 to 2021). [PDF]

PLoS Negl Trop Dis
Lucena Sá ACC, Oliveira ALS, Miranda-Filho DB, Martelli CMT, Araújo TVB, Brickley EB, Ximenes RAA, Montarroyos UR.   +7 more
europepmc   +1 more source

ASPM mutations identified in patients with primary microcephaly and seizures [PDF]

, 2005
Jun Shen
openalex   +1 more source

An International ASXL3 Natural History Study: Deep Phenotypic Analyses Including Detailed Reports of a Milder Phenotype, Novel Associations, and Clinical Recommendations

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Natural History Studies can help inform clinician and caregiver expectations, form the basis of management guidelines, and provide a comparator for therapeutic intervention. In rare conditions, where collection of prospective longitudinal data is untimely and impractical, quasi‐natural history data—from multiple individuals of different ages ...
E. Woods, N. Holmes, A. S. Denommé‐Pichon, M. Vincent, N. Belova, C. Gooch, B. Isidor, C. W. Ockeloen, E. Pavlidou, H. Stewart, V. J. M. Verhoeven, A. Ververi, A. Dixit, A. Sarkar, R. Legg, E. Reid, M. Balasubramanian   +16 more
wiley   +1 more source

Hermansky-Pudlak syndrome-rare type 10 with AP3D1 mutation. [PDF]

Oxf Med Case Reports
Balaraddi V, Nawlakhe K, K S, Bandiya P.
europepmc   +1 more source

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly [PDF]

, 2006
Asma Gul, Muhammad Jawad Hassan, Sabir Hussain, Syed Irfan Raza, Muhammad Salman Chishti, Wasim Ahmad   +5 more
openalex   +1 more source

A Novel Pathogenic Variant in CRB1 as the Cause of Non‐Syndromic Retinitis Pigmentosa in a Geographical Isolate in Northern Italy

American Journal of Medical Genetics Part A, Volume 197, Issue 11, November 2025.
ABSTRACT Non‐syndromic Retinitis Pigmentosa (NsRP) was well known as one of the causes of visual impairment already in the 19th century. Giuseppe Albertotti, Professor of Ophthalmology at the University of Modena (Italy) in 1893, described a high prevalence of NsRP in a geographic isolate, the small village of Colloro, in northwestern Italy.
Andrea Guala, Fabio Sirchia, Claudia Scotti, Elena Rossi, Roberta Falcioni, Silvano Ragozza, Antonella Casella, Enza Maria Valente, Cesare Danesino   +8 more
wiley   +1 more source

Relative and attributable risks of neurological and perinatal adverse outcomes among children with and without prenatal Zika virus exposure in Northeast Brazil: A prospective cohort study (2015-2018). [PDF]

PLoS Negl Trop Dis
Fontes JMSSA, Miranda-Filho DB, Montarroyos UR, de Araújo TVB, Turchi Martelli CM, Rodrigues LC, Brickley E, de Albuquerque MFPM, Souza WV, Ventura LMVO, Ventura CVO, Gois AL, Gouveia MCL, Oliveira DMDS, Eickmann SH, Carvalho MDCG, da Silva PFS, Rocha MÂW, Ramos RCF, Brandão-Filho SP, Cordeiro MT, Bezerra LCA, Dimech GS, Alves SV, Ferreira Neto PP, Castanha PMDS, Dhalia R, Marques ETA, Fulco GRN, Silva MVM, Ximenes RAA, Microcephaly Epidemic Research Group (MERG).   +31 more
europepmc   +1 more source

Aortic morphometry and microcephaly in the hypoplastic left heart syndrome Lazaros Kochilas, Jennifer C. Shores, Rita T. Novello, Gil Wernovsky, Robert R. Clancy, J. William Gaynor, Thomas L. Spray, Jack Rychik. Children's Hospital of Philadelphia, Philadelphia, PA

, 2001

openalex   +1 more source

Aortic morphometry and microcephaly in hypoplastic left heart syndrome [PDF]

, 2007
Amanda J. Shillingford, Richard F. Ittenbach, Bradley S. Marino, Jack Rychik, Robert R. Clancy, Thomas L. Spray, J. William Gaynor, Gil Wernovsky   +7 more
openalex   +1 more source

Congenital Zika Virus Infection: Beyond Neonatal Microcephaly.

JAMA Neurology, 2017
A. Melo, R. S. Aguiar, M. Amorim, M. Arruda, F. O. Melo, Suelem Taís Clementino Ribeiro, A. G. M. Batista, Thales A. Ferreira, Mayra Pereira Dos Santos, Virgínia Vilar Sampaio, Sarah Rogéria Martins Moura, L. P. Rabello, Clarissa Emanuelle Gonzaga, G. Malinger, R. Ximenes, Patrícia Soares de Oliveira-Szejnfeld, F. Tovar-Moll, L. Chimelli, P. Silveira, Rodrigo Delvechio, L. Higa, L. Campanati, R. Nogueira, A. M. Filippis, J. Szejnfeld, C. Voloch, O. Ferreira, R. Brindeiro, A. Tanuri   +28 more
semanticscholar   +1 more source