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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1958 1
1963 1
1964 1
1967 1
1972 1
1973 3
1975 5
1976 2
1977 7
1978 5
1979 10
1980 5
1981 8
1982 7
1983 2
1984 6
1985 10
1986 8
1987 10
1988 14
1989 11
1990 8
1991 13
1992 12
1993 13
1994 17
1995 13
1996 14
1997 23
1998 21
1999 27
2000 36
2001 27
2002 17
2003 29
2004 28
2005 26
2006 28
2007 35
2008 43
2009 53
2010 55
2011 60
2012 49
2013 53
2014 79
2015 87
2016 149
2017 141
2018 122
2019 168
2020 170
2021 151
2022 159
2023 119
2024 61

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1,983 results

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Page 1
The mutational and phenotypic spectrum of TUBA1A-associated tubulinopathy.
Hebebrand M, Hüffmeier U, Trollmann R, Hehr U, Uebe S, Ekici AB, Kraus C, Krumbiegel M, Reis A, Thiel CT, Popp B. Hebebrand M, et al. Orphanet J Rare Dis. 2019 Feb 11;14(1):38. doi: 10.1186/s13023-019-1020-x. Orphanet J Rare Dis. 2019. PMID: 30744660 Free PMC article. Review.
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental delay and epilepsy being the main clinical features. ...In a three-dimensional protein model, 38.6% of all disease-causing variants including t …
BACKGROUND: The TUBA1A-associated tubulinopathy is clinically heterogeneous with brain malformations, microcephaly, developmental del …
Infectious causes of microcephaly: epidemiology, pathogenesis, diagnosis, and management.
Devakumar D, Bamford A, Ferreira MU, Broad J, Rosch RE, Groce N, Breuer J, Cardoso MA, Copp AJ, Alexandre P, Rodrigues LC, Abubakar I. Devakumar D, et al. Lancet Infect Dis. 2018 Jan;18(1):e1-e13. doi: 10.1016/S1473-3099(17)30398-5. Epub 2017 Aug 30. Lancet Infect Dis. 2018. PMID: 28844634 Review.
Microcephaly is an important sign of neurological malformation and a predictor of future disability. ...Although Zika virus has brought the attention of the world to the problem of microcephaly, prevention of all infectious causes of microcephaly and a …
Microcephaly is an important sign of neurological malformation and a predictor of future disability. ...Although Zika virus ha …
Isolated sulfite oxidase deficiency.
Claerhout H, Witters P, Régal L, Jansen K, Van Hoestenberghe MR, Breckpot J, Vermeersch P. Claerhout H, et al. J Inherit Metab Dis. 2018 Jan;41(1):101-108. doi: 10.1007/s10545-017-0089-4. Epub 2017 Oct 4. J Inherit Metab Dis. 2018. PMID: 28980090 Review.
Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, feeding difficulties, ectopia lentis, microcephaly), laboratory findings [urinary sulfite, S-sulfocysteine (in plasma and urine), pl …
Cases were reviewed for consanguinity, sex, age at onset, death, clinical findings (including spasticity, seizures, psychomotor retardation, …
Diagnostic approach to fetal microcephaly.
Leibovitz Z, Lerman-Sagie T. Leibovitz Z, et al. Eur J Paediatr Neurol. 2018 Nov;22(6):935-943. doi: 10.1016/j.ejpn.2018.06.002. Epub 2018 Jun 30. Eur J Paediatr Neurol. 2018. PMID: 29970280 Review.
The conventional and new reference ranges for fetal HC, all result in considerable over-diagnosis of fetal microcephaly (ranging from 43% to 33%). The use of the new references does not significantly improve micB prediction compared with the conventional one, whilst …
The conventional and new reference ranges for fetal HC, all result in considerable over-diagnosis of fetal microcephaly (ranging from …
Zika virus: lessons learned in Brazil.
Proenca-Modena JL, Milanez GP, Costa ML, Judice CC, Maranhão Costa FT. Proenca-Modena JL, et al. Microbes Infect. 2018 Dec;20(11-12):661-669. doi: 10.1016/j.micinf.2018.02.008. Epub 2018 Mar 6. Microbes Infect. 2018. PMID: 29501560 Free article. Review.
Zika virus (ZIKV) greatly impacted the international scientific and public health communities in the last two years due to its association with microcephaly and other neonatal alterations. This review will discuss lessons learned from viral pathogenesis, epidemiology and c …
Zika virus (ZIKV) greatly impacted the international scientific and public health communities in the last two years due to its association w …
Adenylosuccinate lyase deficiency.
Jurecka A, Zikanova M, Kmoch S, Tylki-Szymańska A. Jurecka A, et al. J Inherit Metab Dis. 2015 Mar;38(2):231-42. doi: 10.1007/s10545-014-9755-y. Epub 2014 Aug 12. J Inherit Metab Dis. 2015. PMID: 25112391 Free PMC article. Review.
Patients with type I (severe form) present with a purely neurologic clinical picture characterized by severe psychomotor retardation, microcephaly, early onset of seizures, and autistic features. A more slowly progressing form has also been described (type II, moderate or …
Patients with type I (severe form) present with a purely neurologic clinical picture characterized by severe psychomotor retardation, mic …
Neurological manifestations of congenital Zika virus infection.
Saad T, PennaeCosta AA, de Góes FV, de Freitas M, de Almeida JV, de Santa Ignêz LJ, Amancio AP, Alvim RJ, Antunes Kramberger LA. Saad T, et al. Childs Nerv Syst. 2018 Jan;34(1):73-78. doi: 10.1007/s00381-017-3634-4. Epub 2017 Nov 10. Childs Nerv Syst. 2018. PMID: 29127595 Review.
INTRODUCTION: In 2015, it was observed a rise in the number of microcephalic newborns associated with a history of non-specific febrile sickness and rash during pregnancy in Brazil. Since then, microcephaly has emerged as a public health concern. A few months after, …
INTRODUCTION: In 2015, it was observed a rise in the number of microcephalic newborns associated with a history of non-specific febri …
The journey of Zika to the developing brain.
Rombi F, Bayliss R, Tuplin A, Yeoh S. Rombi F, et al. Mol Biol Rep. 2020 Apr;47(4):3097-3115. doi: 10.1007/s11033-020-05349-y. Epub 2020 Mar 3. Mol Biol Rep. 2020. PMID: 32128708 Free article. Review.
Following its re-emergence in Brazil in 2015, an increase in the number of babies born with microcephaly to infected mothers was observed. Microcephaly is a neurodevelopmental disorder, characterised phenotypically by a smaller than average head size, and is …
Following its re-emergence in Brazil in 2015, an increase in the number of babies born with microcephaly to infected mothers was o …
Microcephaly in Australian infants: A retrospective audit.
Nunez C, Morris A, Hansen M, Elliott EJ. Nunez C, et al. J Paediatr Child Health. 2022 Mar;58(3):448-458. doi: 10.1111/jpc.15739. Epub 2021 Sep 23. J Paediatr Child Health. 2022. PMID: 34553803
Of the children, 886 were ineligible and 197 were confirmed cases of microcephaly. Of cases, 73 (37%) had primary microcephaly (at birth) and 72 (37%) had severe microcephaly (OFC > -3 SD). ...Microcephaly was idiopathic in 51% and 24% had diagnosed …
Of the children, 886 were ineligible and 197 were confirmed cases of microcephaly. Of cases, 73 (37%) had primary microcephaly …
Neurodevelopmental profile of HIVEP2-related disorder.
Mo A, Snyder LG, Babington O, Chung WK, Sahin M, Srivastava S. Mo A, et al. Dev Med Child Neurol. 2022 May;64(5):654-661. doi: 10.1111/dmcn.15100. Epub 2021 Oct 26. Dev Med Child Neurol. 2022. PMID: 34704275 Free PMC article.
RESULTS: Common features included neonatal complications, hypotonia, developmental delay, intellectual disability, language impairment, gastroesophageal reflux, and strabismus. A minority of individuals had epilepsy, microcephaly, or a movement disorder. Based on the Vinel …
RESULTS: Common features included neonatal complications, hypotonia, developmental delay, intellectual disability, language impairment, gast …
1,983 results