| Publication |
Sentence |
Publish Date |
Extraction Date |
Species |
| Carlo Alberto Cesaroni, Gianluca Contrò, Carlotta Spagnoli, Federica Cancelliere, Stefano Giuseppe Caraffi, Alberta Leon, Camilla Stefanini, Daniele Frattini, Susanna Rizzi, Anna Cavalli, Livia Garavelli, Carlo Fusc. Early-onset dysphagia and severe neurodevelopmental disorder as early signs in a patient with two novel variants in NARS1: a case report and brief review of the literature. Neurogenetics. 2024-04-23. PMID:38652341. |
we present the case of a patient referred in infancy for failure to thrive and acquired microcephaly (head circumference: -5 sd). |
2024-04-23 |
2024-04-26 |
Not clear |
| S Cabet, A Putoux, G Lesca, A Lesage, M Massoud, L Guibau. Prenatal diagnosis of microcephaly with simplified gyral pattern: series of 8 cases. Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology. 2023-08-08. PMID:37551048. |
sonographic exam confirmed microcephaly with a mean head circumference growth delay of 3.4 weeks (between 0 and -4 sd) associated with both lack of gyration and operculation of the sylvian fissure without any extra-encephalic anomaly. |
2023-08-08 |
2023-08-14 |
Not clear |
| Moez Dawood, Gulsen Akay, Tadahiro Mitani, Dana Marafi, Jawid M Fatih, Alper Gezdirici, Hossein Najmabadi, Kimia Kahrizi, Jaya Punetha, Christopher M Grochowski, Haowei Du, Angad Jolly, He Li, Zeynep Coban-Akdemir, Fritz J Sedlazeck, Jill V Hunter, Shalini N Jhangiani, Donna Muzny, Davut Pehlivan, Jennifer E Posey, Claudia M B Carvalho, Richard A Gibbs, James R Lupsk. A biallelic frameshift indel in PPP1R35 as a cause of primary microcephaly. American journal of medical genetics. Part A. 2023-01-04. PMID:36598158. |
comprehensive literature searches for ppp1r35 variants yielded two probands affected with severe microcephaly (-15 sd and -12 sd) with the same homozygous indel from a single, consanguineous, iranian family from a cohort of 404 predominantly iranian families. |
2023-01-04 |
2023-08-14 |
Not clear |
| Caroline Foucart, Gwenaël Le Guyader, Valérie Vequeau-Goua, Brigitte Gilbert-Dussardier, Matthieu Eglof. Postzygotic Breakages of Dicentric Chromosomes: A Rare Mechanism of Terminal Deletions. Cytogenetic and genome research. 2022-12-08. PMID:36481557. |
we report a patient presenting with neurodevelopmental disorder, cleft palate, micrognathia, relatively mild microcephaly (-2 sd), and ventricular septal defect for whom a 9p terminal deletion was identified by acgh at birth. |
2022-12-08 |
2023-08-14 |
Not clear |
| Loes A van Gemert, Wilhelmina G Leen, Jos M Draaisma, Nel Roeleveld, Michèl A Willemse. Head circumference in glucose transporter 1 deficiency syndrome: Normal for individuals, abnormal as a group. European journal of paediatric neurology : EJPN : official journal of the European Paediatric Neurology Society. vol 38. 2022-05-02. PMID:35500464. |
therefore, we conducted an observational study among a large cohort of dutch patients with glut1ds to investigate the prevalence of microcephaly, defined as < 2 standard deviations (sd) below the mean. |
2022-05-02 |
2023-08-13 |
Not clear |
| Ayberk Türkyılmaz, Safiye Gunes Sage. Two New Cases of Primary Microcephaly with Neuronal Migration Defect Caused by Truncating Mutations in the Molecular syndromology. vol 13. issue 1. 2022-02-28. PMID:35221876. |
two new cases of primary microcephaly with neuronal migration defect caused by truncating mutations in the autosomal recessive primary microcephaly (mcph) is a uncommon disorder due to congenital deficiency in the development of the cerebral cortex, characterized by a head circumference below 2 sd. |
2022-02-28 |
2023-08-13 |
Not clear |
| Vykuntaraju K Gowda, Priya Gupta, Narmadham K Bharathi, Maya Bhat, Sanjay K Shivappa, Naveen Benakapp. Clinical and Laboratory Profile of Gangliosidosis from Southern Part of India. Journal of pediatric genetics. vol 11. issue 1. 2022-02-21. PMID:35186388. |
two children (2/8; 25%) with tsd and seven (7/11; 63%) with sd had microcephaly. |
2022-02-21 |
2023-08-13 |
Not clear |
| Luis Eduardo Becerra-Solano, Leovigildo Mateos-Sánchez, Eunice López-Muño. Microcephaly, an etiopathogenic vision. Pediatrics and neonatology. vol 62. issue 4. 2021-11-25. PMID:34112604. |
microcephaly is defined by an occipital-frontal head circumference (ofd) 2 standard deviations (sd) smaller than the average expected for age, gender and population. |
2021-11-25 |
2023-08-13 |
Not clear |
| T Batool, S Irshad, K Mahmoo. Novel Pathogenic Mutation Mapping of ASPM Gene in Consanguineous Pakistani Families with Primary Microcephaly. Brazilian journal of biology = Revista brasleira de biologia. vol 83. 2021-08-12. PMID:34378666. |
autosomal recessive primary microcephaly (mcph) is a neurodevelopmental disorder characterized by a congenitally reduced head circumference (-3 to -5 sd) and non-progressive intellectual disability. |
2021-08-12 |
2023-08-13 |
Not clear |
| Emily W Harville, Van T Tong, Suzanne M Gilboa, Cynthia A Moore, Maria Luisa Cafferata, Jackeline Alger, Luz Gibbons, Carolina Bustillo, Allison Callejas, Mario Castillo, Jenny Fúnes, Jorge García, Gustavo Hernández, Wendy López, Carlos Ochoa, Fátima Rico, Heriberto Rodríguez, Concepción Zúniga, Alvaro Ciganda, Candela Stella, Giselle Tomasso, Pierre Bueken. Measurement of Head Circumference: Implications for Microcephaly Surveillance in Zika-Affected Areas. Tropical medicine and infectious disease. vol 6. issue 1. 2021-02-18. PMID:33383742. |
three indicators of microcephaly were calculated: (1) hc more than 2 standard deviations (sd) below the mean, (2) hc more than 3 sd below the mean (referred to as "severe microcephaly") and (3) hc less than the 3rd percentile for sex and gestational age, using the intergrowth-21st growth standards. |
2021-02-18 |
2023-08-13 |
Not clear |
| Darius Ebrahimi-Fakhari, Julian Teinert, Robert Behne, Miriam Wimmer, Angelica D'Amore, Kathrin Eberhardt, Barbara Brechmann, Marvin Ziegler, Dana M Jensen, Premsai Nagabhyrava, Gregory Geisel, Erin Carmody, Uzma Shamshad, Kira A Dies, Christopher J Yuskaitis, Catherine L Salussolia, Daniel Ebrahimi-Fakhari, Toni S Pearson, Afshin Saffari, Andreas Ziegler, Stefan Kölker, Jens Volkmann, Antje Wiesener, David R Bearden, Shenela Lakhani, Devorah Segal, Anaita Udwadia-Hegde, Andrea Martinuzzi, Jennifer Hirst, Seth Perlman, Yoshihisa Takiyama, Georgia Xiromerisiou, Katharina Vill, William O Walker, Anju Shukla, Rachana Dubey Gupta, Niklas Dahl, Ayse Aksoy, Helene Verhelst, Mauricio R Delgado, Radka Kremlikova Pourova, Abdelrahim A Sadek, Nour M Elkhateeb, Lubov Blumkin, Alejandro J Brea-Fernández, David Dacruz-Álvarez, Thomas Smol, Jamal Ghoumid, Diego Miguel, Constanze Heine, Jan-Ulrich Schlump, Hendrik Langen, Jonathan Baets, Saskia Bulk, Hossein Darvish, Somayeh Bakhtiari, Michael C Kruer, Elizabeth Lim-Melia, Nur Aydinli, Yasemin Alanay, Omnia El-Rashidy, Sheela Nampoothiri, Chirag Patel, Christian Beetz, Peter Bauer, Grace Yoon, Mireille Guillot, Steven P Miller, Thomas Bourinaris, Henry Houlden, Laura Robelin, Mathieu Anheim, Abdullah S Alamri, Adel A H Mahmoud, Soroor Inaloo, Parham Habibzadeh, Mohammad Ali Faghihi, Anna C Jansen, Stefanie Brock, Agathe Roubertie, Basil T Darras, Pankaj B Agrawal, Filippo M Santorelli, Joseph Gleeson, Maha S Zaki, Sarah I Sheikh, James T Bennett, Mustafa Sahi. Defining the clinical, molecular and imaging spectrum of adaptor protein complex 4-associated hereditary spastic paraplegia. Brain : a journal of neurology. vol 143. issue 10. 2021-02-16. PMID:32979048. |
we define a set of core features: early-onset developmental delay with delayed motor milestones and significant speech delay (50% non-verbal); intellectual disability in the moderate to severe range; mild hypotonia in infancy followed by spastic diplegia (mean age: 8.4 ± 5.1 years, sd) and later tetraplegia (mean age: 16.1 ± 9.8 years, sd); postnatal microcephaly (83%); foot deformities (69%); and epilepsy (66%) that is intractable in a subset. |
2021-02-16 |
2023-08-13 |
Not clear |
| Fumika Kawano-Matsuda, Tomoki Maeda, Tadashi Kaname, Kumiko Yanagi, Kenji Ihar. X-linked mental retardation and severe short stature with a novel mutation of the Clinical pediatric endocrinology : case reports and clinical investigations : official journal of the Japanese Society for Pediatric Endocrinology. vol 30. issue 1. 2021-01-16. PMID:33446955. |
the boy at the age of 4 yr and 6 mo presented with remarkable growth failure (height: 76.5 cm [-6.3 sd]) and mental retardation (iq: 30) and cerebellar volume loss and without an external anomaly or microcephaly to our hospital. |
2021-01-16 |
2023-08-13 |
Not clear |
| Francesca Cristofoli, Tonya Moss, Hannah W Moore, Koen Devriendt, Heather Flanagan-Steet, Melanie May, Julie Jones, Filip Roelens, Carmen Fons, Anna Fernandez, Loreto Martorell, Angelo Selicorni, Silvia Maitz, Giuseppina Vitiello, Gerd Van der Hoeven, Steven A Skinner, Mathieu Bollen, Joris R Vermeesch, Richard Steet, Hilde Van Esc. De Novo Variants in LMNB1 Cause Pronounced Syndromic Microcephaly and Disruption of Nuclear Envelope Integrity. American journal of human genetics. vol 107. issue 4. 2020-11-30. PMID:32910914. |
here, we confirm this hypothesis with the identification of de novo mutations in lmnb1 in seven individuals with pronounced primary microcephaly (ranging from -3.6 to -12 sd) associated with relative short stature and variable degree of intellectual disability and neurological features as the core symptoms. |
2020-11-30 |
2023-08-13 |
Not clear |
| Ana Karolina Torres Mendes, Marizélia Rodrigues Costa Ribeiro, Fernando Lamy-Filho, Gláucio Andrade Amaral, Marcella Costa Ribeiro Borges, Luciana Cavalcante Costa, Tamires Barradas Cavalcante, Rosângela Fernandes Lucena Batista, Patrícia da Silva Sousa, Antônio Augusto Moura da Silv. Congenital Zika syndrome: association between the gestational trimester of maternal infection, severity of brain computed tomography findings and microcephaly at birth. Revista do Instituto de Medicina Tropical de Sao Paulo. vol 62. 2020-08-28. PMID:32844907. |
mild microcephaly was defined as hc between 2 and ≥3 standard deviations (sd) below the mean for each gestational age and sex, and severe microcephaly when hc <3 sd below average. |
2020-08-28 |
2023-08-13 |
Not clear |
| Ender Karaca, Jennifer E Posey, Bret Bostwick, Pengfei Liu, Alper Gezdirici, Gozde Yesil, Zeynep Coban Akdemir, Yavuz Bayram, Frederike L Harms, Peter Meinecke, Malik Alawi, Carlos A Bacino, V Reid Sutton, Fanny Kortüm, James R Lupsk. Biallelic and De Novo Variants in DONSON Reveal a Clinical Spectrum of Cell Cycle-opathies with Microcephaly, Dwarfism and Skeletal Abnormalities. American journal of medical genetics. Part A. vol 179. issue 10. 2020-08-03. PMID:31407851. |
we identified four unrelated families with five affected individuals having biallelic or de novo variants in donson presenting with a core phenotype of severe short stature (z score < -3 sd), additional skeletal abnormalities, and microcephaly. |
2020-08-03 |
2023-08-13 |
Not clear |
| Aleš Maver, Goran Čuturilo, Anja Kovanda, Aleksandra Miletić, Borut Peterli. Rare missense TUBGCP5 gene variant in a patient with primary microcephaly. European journal of medical genetics. vol 62. issue 12. 2020-03-12. PMID:30543990. |
primary microcephalies (mcph) are characterized by microcephaly (hc -2 sd at birth) in the absence of visceral malformations. |
2020-03-12 |
2023-08-13 |
Not clear |
| Priscila M S Castanha, Wayner V Souza, Cynthia Braga, Thalia Velho Barreto de Araújo, Ricardo A A Ximenes, Maria de Fátima P M Albuquerque, Ulisses R Montarroyos, Demócrito B Miranda-Filho, Marli T Cordeiro, Rafael Dhalia, Ernesto T A Marques, Laura C Rodrigues, Celina M T Martell. Perinatal analyses of Zika- and dengue virus-specific neutralizing antibodies: A microcephaly case-control study in an area of high dengue endemicity in Brazil. PLoS neglected tropical diseases. vol 13. issue 3. 2019-04-22. PMID:30856223. |
microcephaly cases were defined as newborns with a particular head circumference (2 sd below the mean). |
2019-04-22 |
2023-08-13 |
Not clear |
| Yanghui Zhang, Haoxian Li, Jialun Pang, Ying Peng, Li Shu, Hua Wan. Novel SASS6 compound heterozygous mutations in a Chinese family with primary autosomal recessive microcephaly. Clinica chimica acta; international journal of clinical chemistry. vol 491. 2019-03-18. PMID:30639237. |
primary autosomal recessive microcephaly (mcph) is a rare hereditary disease characterized by congenitally small with brain circumference of the head below 3 standard deviations (sd). |
2019-03-18 |
2023-08-13 |
Not clear |
| Mara Cavallin, Camille Maillard, Marie Hully, Marion Philbert, Nathalie Boddaert, Madeline Louise Reilly, Patrick Nitschké, Amandine Bery, Nadia Bahi-Buisso. TLE1, a key player in neurogenesis, a new candidate gene for autosomal recessive postnatal microcephaly. European journal of medical genetics. vol 61. issue 12. 2019-02-22. PMID:29758293. |
postnatal microcephaly comprises a heterogeneous group of neurodevelopmental disorders of varying severity, characterized by normal head size at birth, followed by a postnatal deceleration in head circumference of greater than 3 standard deviations (sd) below the mean. |
2019-02-22 |
2023-08-13 |
Not clear |
| Mara Cavallin, Emilia K Bijlsma, Adrienne El Morjani, Sébastien Moutton, Els A J Peeters, Camille Maillard, Jean Michel Pedespan, Anne-Marie Guerrot, Valérie Drouin-Garaud, Christine Coubes, David Genevieve, Christine Bole-Feysot, Cecile Fourrage, Julie Steffann, Nadia Bahi-Buisso. Recurrent KIF2A mutations are responsible for classic lissencephaly. Neurogenetics. vol 18. issue 2. 2018-02-21. PMID:27747449. |
however, three fourths of patients also showed variable congenital and postnatal microcephaly, up to -5 sd. |
2018-02-21 |
2023-08-13 |
Not clear |