| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Jucille do Amaral Meneses, Ana Catarina Ishigami, Luisa Medeiros de Mello, Luciano Lira de Albuquerque, Carlos Alexandre Antunes de Brito, Marli Tenório Cordeiro, Lindomar José Pen. Lessons Learned at the Epicenter of Brazil's Congenital Zika Epidemic: Evidence From 87 Confirmed Cases. Clinical infectious diseases : an official publication of the Infectious Diseases Society of America. vol 64. issue 10. 2018-01-23. PMID:28329257. |
severe microcephaly, defined as head circumference 3 sd below the mean for sex and gestational age, was found in 72 (82%) infants. |
2018-01-23 |
2023-08-13 |
Not clear |
| Shari E Gelber, Amos Grünebaum, Frank A Chervena. Prenatal screening for microcephaly: an update after three decades. Journal of perinatal medicine. vol 45. issue 2. 2017-07-10. PMID:27662643. |
proposed criteria for the prenatal ultrasound diagnosis of microcephaly as ≤3 standard deviations (sd) from the mean. |
2017-07-10 |
2023-08-13 |
Not clear |
| Rieko Sato, Jun-Ichi Takanashi, Yu Tsuyusaki, Mitsuhiro Kato, Hirotomo Saitsu, Naomichi Matsumoto, Takao Takahash. Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. Pediatrics. vol 138. issue 3. 2017-06-06. PMID:27540107. |
at birth, microcephaly was absent; her head circumference was 32.0 cm (-0.6 sd). |
2017-06-06 |
2023-08-13 |
Not clear |
| Rieko Sato, Jun-Ichi Takanashi, Yu Tsuyusaki, Mitsuhiro Kato, Hirotomo Saitsu, Naomichi Matsumoto, Takao Takahash. Association Between Invisible Basal Ganglia and ZNF335 Mutations: A Case Report. Pediatrics. vol 138. issue 3. 2017-06-06. PMID:27540107. |
at 3 months, microcephaly was noted, (head circumference, 34.0 cm [-4.6 sd]). |
2017-06-06 |
2023-08-13 |
Not clear |
| Abdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, Christine Bole-Feysot, Patrick Nitschke, Arnold Munnich, Myriam Abada-Dendib, Malika Chaouch, Marc Abramowicz, Laurence Colleau. Refining the phenotype associated with CASC5 mutation. Neurogenetics. vol 17. issue 1. 2016-10-19. PMID:26626498. |
autosomal recessive primary microcephaly is a neurodevelopmental disorder characterized by congenitally reduced head circumference by at least two standard deviations (sd) below the mean for age and gender. |
2016-10-19 |
2023-08-13 |
Not clear |
| Abdelkrim Saadi, Florine Verny, Karine Siquier-Pernet, Christine Bole-Feysot, Patrick Nitschke, Arnold Munnich, Myriam Abada-Dendib, Malika Chaouch, Marc Abramowicz, Laurence Colleau. Refining the phenotype associated with CASC5 mutation. Neurogenetics. vol 17. issue 1. 2016-10-19. PMID:26626498. |
all patients exhibited a similar clinical phenotype, including congenital microcephaly with head circumferences ranging from -3 to -4 standard deviations (sd) after age 5 years, moderate to severe cognitive impairment, short stature (adult height -3 sd), dysmorphic features included a sloping forehead, thick eyebrows, synophris and a low columella. |
2016-10-19 |
2023-08-13 |
Not clear |
| Lavinia Schuler-Faccini, Erlane M Ribeiro, Ian M L Feitosa, Dafne D G Horovitz, Denise P Cavalcanti, André Pessoa, Maria Juliana R Doriqui, Joao Ivanildo Neri, Joao Monteiro de Pina Neto, Hector Y C Wanderley, Mirlene Cernach, Antonette S El-Husny, Marcos V S Pone, Cassio L C Serao, Maria Teresa V Sanseverin. Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015. MMWR. Morbidity and mortality weekly report. vol 65. issue 3. 2016-05-31. PMID:26820244. |
the brazil ministry of health (moh) established a task force to investigate the possible association of microcephaly with zika virus infection during pregnancy and a registry for incident microcephaly cases (head circumference ≥2 standard deviations [sd] below the mean for sex and gestational age at birth) and pregnancy outcomes among women suspected to have had zika virus infection during pregnancy. |
2016-05-31 |
2023-08-13 |
Not clear |
| Lavinia Schuler-Faccini, Erlane M Ribeiro, Ian M L Feitosa, Dafne D G Horovitz, Denise P Cavalcanti, André Pessoa, Maria Juliana R Doriqui, Joao Ivanildo Neri, Joao Monteiro de Pina Neto, Hector Y C Wanderley, Mirlene Cernach, Antonette S El-Husny, Marcos V S Pone, Cassio L C Serao, Maria Teresa V Sanseverin. Possible Association Between Zika Virus Infection and Microcephaly - Brazil, 2015. MMWR. Morbidity and mortality weekly report. vol 65. issue 3. 2016-05-31. PMID:26820244. |
among a cohort of 35 infants with microcephaly born during august-october 2015 in eight of brazil's 26 states and reported to the registry, the mothers of all 35 had lived in or visited zika virus-affected areas during pregnancy, 25 (71%) infants had severe microcephaly (head circumference >3 sd below the mean for sex and gestational age), 17 (49%) had at least one neurologic abnormality, and among 27 infants who had neuroimaging studies, all had abnormalities. |
2016-05-31 |
2023-08-13 |
Not clear |
| Jianling Ji, Hane Lee, Bob Argiropoulos, Naghmeh Dorrani, John Mann, Julian A Martinez-Agosto, Natalia Gomez-Ospina, Natalie Gallant, Jonathan A Bernstein, Louanne Hudgins, Leah Slattery, Bertrand Isidor, Cédric Le Caignec, Albert David, Ewa Obersztyn, Barbara Wiśniowiecka-Kowalnik, Michelle Fox, Joshua L Deignan, Eric Vilain, Emily Hendricks, Margaret Horton Harr, Sarah E Noon, Jessi R Jackson, Alisha Wilkens, Ghayda Mirzaa, Noriko Salamon, Jeff Abramson, Elaine H Zackai, Ian Krantz, A Micheil Innes, Stanley F Nelson, Wayne W Grody, Fabiola Quintero-River. DYRK1A haploinsufficiency causes a new recognizable syndrome with microcephaly, intellectual disability, speech impairment, and distinct facies. European journal of human genetics : EJHG. vol 23. issue 11. 2016-05-06. PMID:25944381. |
the severity of the microcephaly varied from -2 sd to -5 sd. |
2016-05-06 |
2023-08-13 |
human |
| Soudeh Ghafouri-Fard, Majid Fardaei, Milad Gholami, Mohammad Miryounes. A case report: Autosomal recessive microcephaly caused by a novel mutation in MCPH1 gene. Gene. vol 571. issue 1. 2015-11-23. PMID:26192461. |
autosomal recessive primary microcephaly (mcph-mim 251200) is distinguished by congenital decrease in occipito-frontal head circumference (ofc) of at least 2 standard deviations (sd) below population average in addition to non-progressive mental retardation, without any prominent neurological disorder. |
2015-11-23 |
2023-08-13 |
Not clear |
| Alma Kuechler, Marjolein H Willemsen, Beate Albrecht, Carlos A Bacino, Dennis W Bartholomew, Hans van Bokhoven, Marie Jose H van den Boogaard, Nuria Bramswig, Christian Büttner, Kirsten Cremer, Johanna Christina Czeschik, Hartmut Engels, Koen van Gassen, Elisabeth Graf, Mieke van Haelst, Weimin He, Jacob S Hogue, Marlies Kempers, David Koolen, Glen Monroe, Sonja de Munnik, Matthew Pastore, André Reis, Miriam S Reuter, David H Tegay, Joris Veltman, Gepke Visser, Peter van Hasselt, Eric E J Smeets, Lisenka Vissers, Thomas Wieland, Willemijn Wissink, Helger Yntema, Alexander Michael Zink, Tim M Strom, Hermann-Josef Lüdecke, Tjitske Kleefstra, Dagmar Wieczore. De novo mutations in beta-catenin (CTNNB1) appear to be a frequent cause of intellectual disability: expanding the mutational and clinical spectrum. Human genetics. vol 134. issue 1. 2015-03-05. PMID:25326669. |
the craniofacial phenotype comprised microcephaly (typically -2 to -4 sd) in 12 of 16 and some overlapping facial features in all individuals (broad nasal tip, small alae nasi, long and/or flat philtrum, thin upper lip vermillion). |
2015-03-05 |
2023-08-13 |
mouse |
| A Mockova, E Dortova, J Dort, J Nahlovsky, V Korecko, Z Ulcova-Gallov. Extremely hypotrophic newborn of mother with systemic lupus erythematosus and antiphospholipid syndrome. Lupus. vol 23. issue 3. 2014-10-23. PMID:24356613. |
during the three-year follow-up, significantly delayed neuropsychological development with microcephaly (-4 sd) and short stature of the child was observed. |
2014-10-23 |
2023-08-12 |
Not clear |
| J S Whittake. Microcephaly and vulnerability of the brain in the etiology of cerebral palsy. Canadian family physician Medecin de famille canadien. vol 22. 2013-07-04. PMID:21308072. |
a review of data showed that of 100 children referred with a diagnosis or suspected diagnosis of cerebral palsy (cp), 37 children had microcephaly, defined as a head with a circumference of two standard deviations (sd) or more below the mean for age and sex. |
2013-07-04 |
2023-08-12 |
Not clear |
| Lila Allou, Laetitia Lambert, Daniel Amsallem, Eric Bieth, Patrick Edery, Anne Destrée, François Rivier, David Amor, Elizabeth Thompson, Julian Nicholl, Michael Harbord, Christophe Nemos, Aline Saunier, Aissa Moustaïne, Adeline Vigouroux, Philippe Jonveaux, Christophe Philipp. 14q12 and severe Rett-like phenotypes: new clinical insights and physical mapping of FOXG1-regulatory elements. European journal of human genetics : EJHG. vol 20. issue 12. 2013-04-29. PMID:22739344. |
we believe that the foxg1 gene should be considered in severely mentally retarded patients (no speech-language) with severe acquired microcephaly (-4 to-6 sd) and few clinical features suggestive of rett syndrome. |
2013-04-29 |
2023-08-12 |
Not clear |
| Yoshiyuki Matsumoto, Tatsuo Miyamoto, Hiromi Sakamoto, Hideki Izumi, Yuka Nakazawa, Tomoo Ogi, Hidetoshi Tahara, Shozo Oku, Azuma Hiramoto, Toshihide Shiiki, Yoshiki Fujisawa, Hirofumi Ohashi, Yoshihiro Sakemi, Shinya Matsuur. Two unrelated patients with MRE11A mutations and Nijmegen breakage syndrome-like severe microcephaly. DNA repair. vol 10. issue 3. 2011-06-20. PMID:21227757. |
here we describe two unrelated patients with nbs-like severe microcephaly (head circumference -10.2 sd and -12.8 sd) and mutations in the mre11a gene. |
2011-06-20 |
2023-08-12 |
Not clear |
| S Stoler-Poria, D Lev, A Schweiger, T Lerman-Sagie, G Malinge. Developmental outcome of isolated fetal microcephaly. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. vol 36. issue 2. 2011-01-05. PMID:20069548. |
to assess the neurodevelopmental outcome of children with prenatally diagnosed isolated microcephaly defined as head circumference more than 2 sd below the gestational mean. |
2011-01-05 |
2023-08-12 |
Not clear |
| Shiri Stoler-Poria, Avraham Schweiger, Tally Lerman-Sagie, Gadi Malinger, Dorit Le. [Microcephaly diagnosed during pregnancy]. Harefuah. vol 149. issue 1. 2010-06-07. PMID:20422839. |
microcephaly is defined postnatally as small head circumference (below the norm by more than two standard deviations (sd)). |
2010-06-07 |
2023-08-12 |
Not clear |
| Piero Pavone, Martino Ruggieri, Ilaria Lombardo, Jyotsna Sudi, Roberta Biancheri, Danilo Castellano-Chiodo, Andrea Rossi, Gemma Incorpora, Norma J Nowak, Susan L Christian, Lorenzo Pavone, William B Dobyn. Microcephaly, sensorineural deafness and Currarino triad with duplication-deletion of distal 7q. European journal of pediatrics. vol 169. issue 4. 2010-05-20. PMID:19838731. |
she had, in addition, pre- and post-natal growth impairment (<3rd percentile), severe microcephaly (<-3 sd) with normal gyration pattern and lack of cortical thickening associated with a hypoplastic inferior vermis, facial dysmorphism, sensorineural deafness and decreased serum levels of igf-1. |
2010-05-20 |
2023-08-12 |
Not clear |
| Farooq Muhammad, Shahid Mahmood Baig, Lars Hansen, Muhammad Sajid Hussain, Iram Anjum Inayat, Muhammad Aslam, Javed Anver Qureshi, Muhammad Toilat, Elisabeth Kirst, Muhammad Wajid, Peter Nürnberg, Hans Eiberg, Niels Tommerup, Klaus W Kjae. Compound heterozygous ASPM mutations in Pakistani MCPH families. American journal of medical genetics. Part A. vol 149A. issue 5. 2009-06-18. PMID:19353628. |
autosomal recessive primary microcephaly (mcph) is characterized by reduced head circumference (sd) and mental retardation without any other neurological manifestation. |
2009-06-18 |
2023-08-12 |
Not clear |
| Marc Trimborn, Reyk Richter, Nadine Sternberg, Ioannis Gavvovidis, Detlev Schindler, Andrew P Jackson, Eva-Christina Prott, Karl Sperling, Gabriele Gillessen-Kaesbach, Heidemarie Neitze. The first missense alteration in the MCPH1 gene causes autosomal recessive microcephaly with an extremely mild cellular and clinical phenotype. Human mutation. vol 26. issue 5. 2006-06-13. PMID:16211557. |
autosomal recessive primary microcephaly (mcph) is a rare neurodevelopmental disorder characterized by mental retardation and congenital microcephaly with a head circumference at least 4 sd below age and sex means, in the absence of other significant malformations or neurological deficits. |
2006-06-13 |
2023-08-12 |
Not clear |