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Genetics and congenital disorders

This section considers studies of genetic and congenital disorders in children and adolescents.

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  1. Content type: Case report

    Rhabdomyosarcoma (RMS), one of the most common soft tissue sarcomas of childhood, is very rare in the neonatal period (0.4–2% of cases). In order to gain a deeper understanding of this disease at such age, pat...

    Authors: Ida Russo, Virginia Di Paolo, Carmelo Gurnari, Angela Mastronuzzi, Francesca Del Bufalo, Pier Luigi Di Paolo, Angela Di Giannatale, Renata Boldrini and Giuseppe Maria Milano

    Citation: BMC Pediatrics 2018 18:166

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  2. Content type: Research article

    The early stage of embryo development is extremely vulnerable to various teratogenic factors, leading to congenital anomalies. In Ethiopia, a significant number of babies are born with congenital anomalies, bu...

    Authors: Molla Taye, Mekbeb Afework, Wondwossen Fantaye, Ermias Diro and Alemayehu Worku

    Citation: BMC Pediatrics 2018 18:142

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  3. Content type: Study protocol

    As part of the COAD-study two home-based bimanual training programs for young children with unilateral Cerebral Palsy (uCP) have been developed, both consisting of a preparation phase and a home-based training...

    Authors: Laura Beckers, Jan van der Burg, Yvonne Janssen-Potten, Eugène Rameckers, Pauline Aarts and Rob Smeets

    Citation: BMC Pediatrics 2018 18:141

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  4. Content type: Study protocol

    Home-based training is considered an important intervention in rehabilitation of children with unilateral cerebral palsy. Despite consensus on the value of home-based upper limb training, no evidence-based bes...

    Authors: Marlous Schnackers, Laura Beckers, Yvonne Janssen-Potten, Pauline Aarts, Eugène Rameckers, Jan van der Burg, Imelda de Groot, Rob Smeets, Sander Geurts and Bert Steenbergen

    Citation: BMC Pediatrics 2018 18:139

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  5. Content type: Case report

    4H syndrome is a congenital hypomyelinating leukodystrophy characterized by hypodontia, hypomyelination and hypogonadotropic hypogonadism belonging to the Pol III-related leukodystrophies which arise due to mu...

    Authors: Vishal V. Tewari, Ritu Mehta, C. M. Sreedhar, Kunal Tewari, Akbar Mohammad, Neerja Gupta, Sheffali Gulati and Madhulika Kabra

    Citation: BMC Pediatrics 2018 18:126

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  6. Content type: Research article

    Fatty acid oxidation disorders (FAODs) include more than 15 distinct disorders with variable clinical manifestations. After the introduction of newborn screening using tandem mass spectrometry, early identific...

    Authors: Eungu Kang, Yoon-Myung Kim, Minji Kang, Sun-Hee Heo, Gu-Hwan Kim, In-Hee Choi, Jin-Ho Choi, Han-Wook Yoo and Beom Hee Lee

    Citation: BMC Pediatrics 2018 18:103

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  7. Content type: Research article

    There is scarcity of information on the clinical features and genetics of glucokinase-maturity-onset diabetes of the young (GCK-MODY) in China. The aim of the study was to investigate the clinical and molecula...

    Authors: Xiuzhen Li, Tzer Hwu Ting, Huiying Sheng, Cui Li Liang, Yongxian Shao, Minyan Jiang, Aijing Xu, Yunting Lin and Li Liu

    Citation: BMC Pediatrics 2018 18:101

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  8. Content type: Research article

    Osteogenesis imperfecta (OI) is a disorder of bone formation leading to low mineral density and fractures. Children and adolescents with OI require periodic medical follow up, corrective surgery, drug therapy ...

    Authors: Ana Paula Vanz, Juliana van de Sande Lee, Bruna Pinheiro, Marina Zambrano, Evelise Brizola, Neusa Sicca da Rocha, Ida Vanessa D. Schwartz, Maria Marlene de Souza Pires and Têmis Maria Félix

    Citation: BMC Pediatrics 2018 18:95

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  9. Content type: Case report

    In Neurofibromatosis type 1, cerebral Unidentified Bright Objects are a well-known benign entity that has been extensively reported in the literature. In our case series, we wish to focus on a further possible...

    Authors: Alessandra D’Amico, Federica Mazio, Lorenzo Ugga, Renato Cuocolo, Mario Cirillo, Claudia Santoro, Silverio Perrotta, Daniela Melis and Arturo Brunetti

    Citation: BMC Pediatrics 2018 18:91

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  10. Content type: Case report

    Epilepsy regroups a common and diverse set of chronic neurological disorders that are characterized by spontaneous, unprovoked, and recurrent epileptic seizures. Epilepsies have a highly heterogeneous backgrou...

    Authors: Jaber Lyahyai, Bouchra Ouled Amar Bencheikh, Siham C. Elalaoui, Maria Mansouri, Lamia Boualla, Alexandre DIonne-Laporte, Dan Spiegelman, Patrick A. Dion, Patrick Cossette, Guy A. Rouleau and Abdelaziz Sefiani

    Citation: BMC Pediatrics 2018 18:90

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    The Correction to this article has been published in BMC Pediatrics 2018 18:138

  11. Content type: Case report

    Triple A syndrome (or Allgrove syndrome) is a rare autosomal recessive disorder characterized by alacrima, achalasia, adrenal insufficiency and autonomic/neurological abnormalities. The majority of cases are c...

    Authors: Daniel Tibussek, Sujal Ghosh, Angela Huebner, Joerg Schaper, Ertan Mayatepek and Katrin Koehler

    Citation: BMC Pediatrics 2018 18:6

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  12. Content type: Case report

    Partial trisomy is often the result of an unbalanced segregation of a parental balanced translocation. Partial trisomy16q is characterized by a common, yet non-specific group of craniofacial dysmorphic feature...

    Authors: R. Mishra, C. S. Paththinige, N. D. Sirisena, S. Nanayakkara, U. G. I. U. Kariyawasam and V. H. W. Dissanayake

    Citation: BMC Pediatrics 2018 18:4

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  13. Content type: Case report

    Schimke immune-osseous dysplasia (SIOD, OMIM 242900) is characterized by spondyloepiphyseal dysplasia, T-cell deficiency, renal dysfunction and special facial features. SMARCAL1 gene mutations are determined in a...

    Authors: Shuaimei Liu, Mingchao Zhang, Mengxia Ni, Peiran Zhu and Xinyi Xia

    Citation: BMC Pediatrics 2017 17:217

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  14. Content type: Case report

    Mutations in the COL2A1 gene cause type II collagenopathies characterized by skeletal dysplasia with a wide spectrum of phenotypic severity. Most COL2A1 mutations located in the triple-helical region, and the gly...

    Authors: Jing Chen, Xiaomin Ma, Yulin Zhou, Guimei Li and Qiwei Guo

    Citation: BMC Pediatrics 2017 17:175

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  15. Content type: Research article

    Glucose-6-phosphate dehydrogenase (G6PD) deficiency is commonly detected during mass screening for neonatal disease. We developed a method to measure reduced glutathione (GSH) and glutathione disulfide (GSSG) ...

    Authors: Zhen-hua Gong, Guo-li Tian, Qi-wei Huang, Yan-min Wang and Hong-ping Xu

    Citation: BMC Pediatrics 2017 17:172

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  16. Content type: Case report

    Thrombocytopenia can occur in different circumstances during childhood and although immune thrombocytopenia is its most frequent cause, it is important to consider other conditions, especially when there is a ...

    Authors: Samuel Souza Medina, Lúcia Helena Siqueira, Marina Pereira Colella, Gabriela Goes Yamaguti-Hayakawa, Bruno Kosa Lino Duarte, Maria Marluce Dos Santos Vilela and Margareth Castro Ozelo

    Citation: BMC Pediatrics 2017 17:151

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  17. Content type: Research article

    With further expansion of the number of conditions for which newborn screening can be undertaken, it is timely to consider the impact of positive screening results and the confirmatory testing period on the fa...

    Authors: Louise Moody, Lou Atkinson, Isher Kehal and James R. Bonham

    Citation: BMC Pediatrics 2017 17:121

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  18. Content type: Research article

    Cleft lip and palate (CLP) is one of the most common birth defects. Multiple factors are believed to be responsible for an unfavorable dental arch relationship in CLP. Facial growth (maxillary) retardation, wh...

    Authors: Sanjida Haque, Mohammad Khursheed Alam and Mohd Fadhli Khamis

    Citation: BMC Pediatrics 2017 17:119

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2016 Journal Metrics

  • Citation Impact
    2.071 - 2-year Impact Factor
    2.516 - 5-year Impact Factor
    1.290 - Source Normalized Impact per Paper (SNIP)
    1.160 - SCImago Journal Rank (SJR)

    904.0 Usage Factor

    Social Media Impact
    293 Mentions