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  1. Content type: Research article

    Brain-derived neurotrophic factor (BDNF) is one of the most abundant neurotrophins in the adult brain, and it plays important roles in modulating synaptic plasticity and synaptogenesis. This study attempted to...

    Authors: Yu-Jia Wang, Kai-Yun Chen, Li-Na Kuo, Wen-Chang Wang, Yu-Wen Hsu, Henry Sung-Ching Wong, Chien-Min Lin, Kuo-Hsing Liao, Yan-Feng Zhang, Yung-Hsiao Chiang and Wei-Chiao Chang

    Citation: BMC Medical Genetics 2018 19:13

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  2. Content type: Research article

    FANCM and RECQL have recently been reported as breast cancer susceptibility genes and it has been suggested that they should be included on gene panel tests for breast cancer predisposition. However, the clinical...

    Authors: Tú Nguyen-Dumont, Aleksander Myszka, Pawel Karpinski, Maria M. Sasiadek, Hayane Akopyan, Fleur Hammet, Helen Tsimiklis, Daniel J. Park, Bernard J. Pope, Ryszard Slezak, Nataliya Kitsera, Aleksandra Siekierzynska and Melissa C. Southey

    Citation: BMC Medical Genetics 2018 19:12

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  3. Content type: Research article

    Obesity is a metabolic disease that is widely prevalent with approximately 600 million people classified as obese worldwide. Its etiology is multifactorial and involves a complex interplay between genes and th...

    Authors: Saad Mahmud Khan, Sarah El Hajj Chehadeh, Mehera Abdulrahman, Wael Osman and Habiba Al Safar

    Citation: BMC Medical Genetics 2018 19:11

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  5. Content type: Research article

    The genome-wide association study has founded hypertension-related single nucleotide polymorphism (SNP) rs11191548 near CYP17A1 encoding a key enzyme involved in steroid metabolism, but the molecular mechanisms a...

    Authors: Lijun Wu, Liwang Gao, Xiaoyuan Zhao, Meixian Zhang, Jianxin Wu and Jie Mi

    Citation: BMC Medical Genetics 2018 19:9

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  6. Content type: Case report

    Osteogenesis imperfecta (OI) is a rare primarily autosomal dominant condition in which the connective tissues of bones, ligaments and sclerae do not form properly. Typically, mutations in COL1A1 and COL1A2 genes ...

    Authors: Paolo Scollo, Martin Paul Snead, Allan James Richards, Rebecca Pollitt and Catherine DeVile

    Citation: BMC Medical Genetics 2018 19:8

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  7. Content type: Case report

    Fanconi anemia (FA) is an inherited genomic instability disorder with congenital and developmental abnormalities, bone marrow failure and predisposition to cancer early in life, and cellular sensitivity to DNA...

    Authors: Isabell Popp, Maqsood Punekar, Nick Telford, Stavros Stivaros, Kate Chandler, Meenakshi Minnis, Anna Castleton, Claire Higham, Louise Hopewell, D. Gareth Evans, Anja Raams, Arjan F. Theil, Stefan Meyer and Detlev Schindler

    Citation: BMC Medical Genetics 2018 19:7

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  8. Content type: Correction

    Following publication of the original article [1], the authors reported an error in Table 3 on page 4. Variant No. 18 should be “p.​Ser339Phe c.​1016C>T” (as g...

    Authors: Ning Liu, Qiuying Huang, Qingge Li, Dehua Zhao, Xiaole Li, Lixia Cui, Ying Bai, Yin Feng and Xiangdong Kong

    Citation: BMC Medical Genetics 2018 19:6

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    The original article was published in BMC Medical Genetics 2017 18:108

  9. Content type: Research article

    Noise-induced hearing loss (NIHL) is a complex, irreversible disease caused by the interaction of genetic and environmental factors. In recent years, a great many studies have been done to explore the NIHL sus...

    Authors: Peipei Yu, Jie Jiao, Guoshun Chen, Wenhui Zhou, Huanling Zhang, Hui Wu, Yanhong Li, Guizhen Gu, Yuxin Zheng, Yue Yu and Shanfa Yu

    Citation: BMC Medical Genetics 2018 19:4

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  10. Content type: Research article

    Hereditary hemochromatosis (HH) encompasses a group of autosomal recessive disorders mainly characterized by enhanced intestinal absorption of iron and its accumulation in parenchymal organs. HH diagnosis is b...

    Authors: Paula Fernanda Silva Fonseca, Rodolfo Delfini Cançado, Flavio Augusto Naoum, Carla Luana Dinardo, Guilherme Henrique Hencklain Fonseca, Sandra Fatima Menosi Gualandro, José Eduardo Krieger, Alexandre Costa Pereira, Pierre Brissot and Paulo Caleb Junior Lima Santos

    Citation: BMC Medical Genetics 2018 19:3

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  11. Content type: Research article

    Non-ketotic hyperglycinemia (NKH) is a rare, devastating autosomal recessive disorder of glycine metabolism with a very poor prognosis. Currently, few studies have reported genetic profiling of Chinese NKH pat...

    Authors: Yiming Lin, Zhenzhu Zheng, Wenjia Sun and Qingliu Fu

    Citation: BMC Medical Genetics 2018 19:5

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  12. Content type: Research article

    HLA antigens have been widely studied for their role in transplantation biology, human diseases and population diversity. The aim of this study was to provide the first profile of HLA class I and class II alle...

    Authors: Cheikh Tijani Hamed, Ghlana Meiloud, Fatimetou Veten, Mouna Hadrami, Sidi M. Ghaber, Ely C. Boussaty, Norddine Habti and Ahmed Houmeida

    Citation: BMC Medical Genetics 2018 19:2

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  13. Content type: Case report

    The Protein Kinase AMP-Activated Non-Catalytic Subunit Gamma 2 (PRKAG2) cardiac syndrome is characterized by glycogen accumulation in the cardiac tissue. The disease presents clinically with hypertrophic cardi...

    Authors: Pooya Banankhah, Gregory A. Fishbein, Anthony Dota and Reza Ardehali

    Citation: BMC Medical Genetics 2018 19:1

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  14. Content type: Case report

    Low-frequency nonsyndromic hearing loss (LF-NSHL) is a rare, inherited disorder. Here, we report a family with LF-NSHL in whom a missense mutation was found in the Wolfram syndrome 1 (WFS1) gene.

    Authors: Hye Ji Choi, Joon Suk Lee, Seyoung Yu, Do Hyeon Cha, Heon Yung Gee, Jae Young Choi, Jong Dae Lee and Jinsei Jung

    Citation: BMC Medical Genetics 2017 18:151

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  15. Content type: Correction

    Following publication of the original article [1], the authors requested a correction to the details of one of the co-authors.

    Authors: Zsolt Bánfai, Kinga Hadzsiev, Endre Pál, Katalin Komlósi, Márton Melegh, László Balikó and Béla Melegh

    Citation: BMC Medical Genetics 2017 18:150

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    The original article was published in BMC Medical Genetics 2017 18:105

  16. Content type: Case report

    Progressive pseudorheumatoid dysplasia (PPD) is a rare autosomal recessive genetic disease that is characterized by pain, stiffness and enlargement of multiple joints with an age of onset between 3 and 8 years...

    Authors: Qiongyi Hu, Jing Liu, Yi Wang, Jiucun Wang, Hui Shi, Yue Sun, Xinyao Wu, Chengde Yang and Jialin Teng

    Citation: BMC Medical Genetics 2017 18:149

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  17. Content type: Research article

    Osteopetrosis is a rare inherited bone disorder mainly described as an increased bone density caused by defective osteoclastic bone resorption. To date, genetic variants of eleven genes have been reported so f...

    Authors: Muhammad Ajmal, Asif Mir, Sughra Wahid, Chiea Chuen Khor, Jia Nee Foo, Saima Siddiqi, Mehran Kauser, Salman Akbar Malik and Muhammad Nasir

    Citation: BMC Medical Genetics 2017 18:148

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  18. Content type: Research article

    Mutations in the gene that encodes CDGSH iron sulfur domain 2 (CISD2) are causative of Wolfram syndrome type 2 (WFS2), a rare autosomal recessive neurodegenerative disorder mainly characterized by diabetes mellit...

    Authors: Monica Cattaneo, Lucia La Sala, Maurizio Rondinelli, Edoardo Errichiello, Orsetta Zuffardi, Annibale Alessandro Puca, Stefano Genovese and Antonio Ceriello

    Citation: BMC Medical Genetics 2017 18:147

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  19. Content type: Research article

    Although statins deteriorate glucose metabolism, their glucose-lowering effects have emerged in some situations. Here, we assessed whether these effects are a consequence of statins’ interaction with paraoxona...

    Authors: Akiko Sumi, Udai Nakamura, Masanori Iwase, Hiroki Fujii, Toshiaki Ohkuma, Hitoshi Ide, Tamaki Jodai-Kitamura, Yuji Komorita, Masahito Yoshinari, Yoichiro Hirakawa, Atsushi Hirano, Michiaki Kubo and Takanari Kitazono

    Citation: BMC Medical Genetics 2017 18:146

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  20. Content type: Research article

    Arrhythmogenic cardiomyopathy (ACM) is an inherited genetic disorder, characterized by the substitution of heart muscle with fibro-fatty tissue and severe ventricular arrhythmias, often leading to heart failur...

    Authors: Eva König, Claudia Béu Volpato, Benedetta Maria Motta, Hagen Blankenburg, Anne Picard, Peter Pramstaller, Michela Casella, Werner Rauhe, Giulio Pompilio, Viviana Meraviglia, Francisco S. Domingues, Elena Sommariva and Alessandra Rossini

    Citation: BMC Medical Genetics 2017 18:145

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  21. Content type: Case report

    Spinocerebellar ataxias comprise a large and heterogeneous group of disorders that may present with isolated ataxia, or ataxia in combination with other neurologic or non-neurologic symptoms. Monoallelic or bi...

    Authors: Zafar Ali, Shumaila Zulfiqar, Joakim Klar, Johan Wikström, Farid Ullah, Ayaz Khan, Uzma Abdullah, Shahid Baig and Niklas Dahl

    Citation: BMC Medical Genetics 2017 18:144

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  22. Content type: Case report

    ACTA2 encodes smooth muscle specific α-actin, a critical component or the contractile complex of vascular smooth muscle. Mutations in ACTA2 are the most common genetic cause of thoraci...

    Authors: Kylie Cooper and Stephen Brown

    Citation: BMC Medical Genetics 2017 18:143

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  23. Content type: Research article

    Implementation of whole exome sequencing has provided unique opportunity for a wide screening of causative variants in genetically heterogeneous diseases, including nonsyndromic hearing impairment. TRIOBP in t...

    Authors: Agnieszka Pollak, Urszula Lechowicz, Victor Abel Murcia Pieńkowski, Piotr Stawiński, Joanna Kosińska, Henryk Skarżyński, Monika Ołdak and Rafał Płoski

    Citation: BMC Medical Genetics 2017 18:142

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  24. Content type: Case report

    Microcephaly is a disorder characterized by severe impairment in brain development, reduced brain and head size. Congenital severe microcephaly is very rare, and NDE1 deletion and genetic mutations are important ...

    Authors: Li Tan, Bo Bi, Peiwei Zhao, Xiaonan Cai, Chunhui Wan, Jianbo Shao and Xuelian He

    Citation: BMC Medical Genetics 2017 18:141

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  25. Content type: Research article

    Thyroid cancer is a common malignant disease of the endocrine system with increasing incidence rates over the last few decades. In this study, we sought to analyze the possible association of 45 single nucleot...

    Authors: Isabelle C. C. dos Santos, Julieta Genre, Diego Marques, Ananília M. G. da Silva, Jéssica C. dos Santos, Jéssica N. G. de Araújo, Victor H. R. Duarte, Angel Carracedo, Maria Torres-Español, Gisele Bastos, Carlos C. de Oliveira Ramos, André D. Luchessi and Vivian N. Silbiger

    Citation: BMC Medical Genetics 2017 18:140

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  26. Content type: Research article

    It is now well-known that some antimalarials such as primaquine may induce severe hemolytic anemia in people with G-6-PD deficiency. Antimalarial drug prescriptions must, therefore take into account the patien...

    Authors: Abdoul Karim Ouattara, Pouiré Yameogo, Lassina Traore, Birama Diarra, Maléki Assih, Tegwindé Rébéca Compaore, Dorcas Obiri-yeboah, Serge Théophile Soubeiga, Florencia Wendkuuni Djigma and Jacques Simpore

    Citation: BMC Medical Genetics 2017 18:139

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  28. Content type: Case report

    Patients with Angelman syndrome (AS) are affected by severe intellectual disability with absence of speech, distinctive dysmorphic craniofacial features, ataxia and a characteristic behavioral phenotype. AS is...

    Authors: Cinthia Aguilera, Marina Viñas-Jornet, Neus Baena, Elisabeth Gabau, Concepción Fernández, Nuria Capdevila, Sanja Cirkovic, Adrijan Sarajlija, Marijana Miskovic, Danijela Radivojevic, Anna Ruiz and Miriam Guitart

    Citation: BMC Medical Genetics 2017 18:137

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  29. Content type: Case report

    Hemophagocytic lymphohistiocytosis (HLH) is a rare but fatal disease caused by uncontrolled proliferation of activated lymphocytes and macrophages. Six genes including SH2D1A, PRF1, UNC13D, STX11, STXBP2 and XIAP

    Authors: Dongling Liu, Xijiang Hu, Xiwen Jiang, Bo Gao, Cheng Wan and Changying Chen

    Citation: BMC Medical Genetics 2017 18:135

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  30. Content type: Research article

    Cohort studies have revealed an increased risk for ventricular fibrillation (VF) and sudden cardiac death (SCD) in patients with atrial fibrillation (AF). In this study, we hypothesized that single nucleotide ...

    Authors: Reza Jabbari, Javad Jabbari, Charlotte Glinge, Bjarke Risgaard, Stefan Sattler, Bo Gregers Winkel, Christian Juhl Terkelsen, Hans-Henrik Tilsted, Lisette Okkels Jensen, Mikkel Hougaard, Stig Haunsø, Thomas Engstrøm, Christine M. Albert and Jacob Tfelt-Hansen

    Citation: BMC Medical Genetics 2017 18:138

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  31. Content type: Case report

    Cohen syndrome is a rare autosomal recessive developmental disorder that comprises variable clinical features counting developmental delay, pigmentary retinopathy, myopia, acquired microcephaly, truncal obesit...

    Authors: Imen Rejeb, Houweyda Jilani, Yasmina Elaribi, Syrine Hizem, Lamia Hila, Julia Lauer Zillahrdt, Jamel Chelly and Lamia Benjemaa

    Citation: BMC Medical Genetics 2017 18:134

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  32. Content type: Research article

    Dendritic Cell-Specific Transmembrane Protein (DC-STAMP) is involved in osteoclastogenesis with a key role in mononucleated osteoclasts fusion. We reported in patients with Paget’s disease of bone (PDB) a rare...

    Authors: Emilie Laurier, Nathalie Amiable, Edith Gagnon, Jacques P. Brown and Laëtitia Michou

    Citation: BMC Medical Genetics 2017 18:133

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  34. Content type: Case report

    Peutz-Jeghers syndrome (PJS) is caused by mutations in the tumor suppressor gene, STK11, and is characterized by gastrointestinal hamartomas, melanin spots on the lips and the extremities, and an increased risk o...

    Authors: Zi-Ye Zhao, Yu-Liang Jiang, Bai-Rong Li, Fu Yang, Jing Li, Xiao-Wei Jin, Shou-Bin Ning and Shu-Han Sun

    Citation: BMC Medical Genetics 2017 18:130

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  35. Content type: Research article

    Asthma and allergic rhinitis are respiratory diseases with a significant global burden. Forkhead box O3 (FOXO3) is a gene involved in the etiology of a number of respiratory diseases. The objective of this study ...

    Authors: Justin Z. Amarin, Randa G. Naffa, Haya H. Suradi, Yousof M. Alsaket, Nathir M. Obeidat, Tareq M. Mahafza and Malek A. Zihlif

    Citation: BMC Medical Genetics 2017 18:132

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  36. Content type: Case report

    Rare missense mutations in the gene encoding coatomer subunit alpha (COPA) have recently been shown to cause autoimmune interstitial lung, joint and kidney disease, also known as COPA syndrome, under a dominant m...

    Authors: Brynjar O. Jensson, Sif Hansdottir, Gudny A. Arnadottir, Gerald Sulem, Ragnar P. Kristjansson, Asmundur Oddsson, Stefania Benonisdottir, Hakon Jonsson, Agnar Helgason, Jona Saemundsdottir, Olafur T. Magnusson, Gisli Masson, Gudmundur A. Thorisson, Adalbjorg Jonasdottir, Aslaug Jonasdottir, Asgeir Sigurdsson…

    Citation: BMC Medical Genetics 2017 18:129

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  37. Content type: Research article

    Essential hypertension (EH) is influenced by various environmental and genetic factors. Nitric oxide is important for the functional integrity of the vascular endothelium and is produced in endothelial cells b...

    Authors: Sahar Gamil, Jeanette Erdmann, Ihab B. Abdalrahman and Abdelrahim O. Mohamed

    Citation: BMC Medical Genetics 2017 18:128

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  38. Content type: Research article

    Chronic granulomatous disease (CGD) is an inherited immunodeficiency disease caused by the defect of NADPH oxidase. Mutations in CYBB or CYBA gene may result in membrane subunits, gp91phox or p22phox, expression ...

    Authors: Jinqiao Sun, Min Wen, Ying Wang, Danru Liu, Wenjing Ying and Xiaochuan Wang

    Citation: BMC Medical Genetics 2017 18:127

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  39. Content type: Research article

    Hereditary multiple exostoses (HME) is a rare autosomal dominant skeletal disorder that can cause a variety of clinical manifestations. We aimed to evaluate the general clinical phenotypic severity of HME by u...

    Authors: Yuchan Li, Jian Wang, Zhigang Wang, Jingyan Tang and Tingting Yu

    Citation: BMC Medical Genetics 2017 18:126

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  40. Content type: Case report

    Townes-Brocks syndrome (TBS) is a rare autosomal dominant condition characterized by renal, anal, limb, and auditory abnormalities. TBS diagnosis can be challenging in settings where genetic analysis is not re...

    Authors: Paulo Breno Noronha Liberalesso, Mara L. Cordeiro, Simone Carreiro Vieira Karuta, Karyn Regina Jordão Koladicz, Anderson Nitsche, Bianca Simone Zeigelboim, Salmo Raskin and Michael Rauchman

    Citation: BMC Medical Genetics 2017 18:125

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  41. Content type: Case report

    Defects in the human glycosylphosphatidylinositol anchor biosynthetic pathway are associated with inherited glycosylphosphatidylinositol (GPI)-deficiencies characterized by a broad range of clinical phenotypes...

    Authors: Isabelle Thiffault, Britton Zuccarelli, Holly Welsh, Xuan Yuan, Emily Farrow, Lee Zellmer, Neil Miller, Sarah Soden, Ahmed Abdelmoity, Robert A. Brodsky and Carol Saunders

    Citation: BMC Medical Genetics 2017 18:124

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  42. Content type: Research article

    The objective of our investigation is to study the relationship between the rs4939827 SNP in the SMAD7 gene, Mediterranean diet pattern and the risk of colorectal cancer.

    Authors: Jéssica Alonso-Molero, Carmen González-Donquiles, Camilo Palazuelos, Tania Fernández-Villa, Elena Ramos, Marina Pollán, Nuria Aragonés, Javier Llorca, M. Henar Alonso, Adonina Tardón, Pilar Amiano, José Juan Jiménez Moleon, Rosana Peiró Pérez, Rocío Capelo, Antonio J. Molina, Inés Gómez Acebo…

    Citation: BMC Medical Genetics 2017 18:122

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  43. Content type: Research article

    Many published studies have estimated the association between the +331G/A (rs10895068) polymorphism in the progesterone receptor (PgR) gene and breast cancer risk. However, the results remain inconsistent and ...

    Authors: Xing-ling Qi, Jun Yao and Yong Zhang

    Citation: BMC Medical Genetics 2017 18:123

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  44. Content type: Research article

    Studies have sought associations of the opioid receptor mu 1 (OPRM1) A118G polymorphism (rs1799971) with alcohol-dependence, but findings are inconsistent. We summarize the information as to associations of rs...

    Authors: Xiangyi Kong, Hao Deng, Shun Gong, Theodore Alston, Yanguo Kong and Jingping Wang

    Citation: BMC Medical Genetics 2017 18:120

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  45. Content type: Case report

    Hypoparathyroidism, sensorineural hearing loss, and renal disease (HDR) syndrome, also known as Barakat syndrome, is a rare genetic disorder with high phenotypic heterogeneity caused by haploinsufficiency of the

    Authors: Aram Yang, Jinsup Kim, Chang-Seok Ki, Sung Hwa Hong, Sung Yoon Cho and Dong-Kyu Jin

    Citation: BMC Medical Genetics 2017 18:121

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  46. Content type: Case report

    Chromosomal rearrangements involving 17q23 have been described rarely. Deletions at 17q23.1q23.2 have been reported in individuals with developmental delay and growth retardation, whereas duplications at 17q23...

    Authors: Karen Wessel, Jehan Suleiman, Tamam E. Khalaf, Shivendra Kishore, Arndt Rolfs and Ayman W. El-Hattab

    Citation: BMC Medical Genetics 2017 18:119

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  47. Content type: Case report

    Wilms tumor, aniridia, genitourinary anomalies and mental retardation (WAGR) syndrome is a rare genetic disorder caused by heterozygous deletions of WT1 and PAX6 at chromosome 11p13. Deletion of BDNF is known eto...

    Authors: Yui Takada, Yasunari Sakai, Yuki Matsushita, Kazuhiro Ohkubo, Yuhki Koga, Satoshi Akamine, Michiko Torio, Yoshito Ishizaki, Masafumi Sanefuji, Hiroyuki Torisu, Chad A. Shaw, Masayo Kagami, Toshiro Hara and Shouichi Ohga

    Citation: BMC Medical Genetics 2017 18:117

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  48. Content type: Case report

    Studying human genome using chromosomal microarrays has significantly improved the accuracy and yield of diagnosing genomic disorders. Chromosome 7q36 deletions and duplications are rare genomic disorders that...

    Authors: Muna A. Al Dhaibani, Diane Allingham-Hawkins and Ayman W. El-Hattab

    Citation: BMC Medical Genetics 2017 18:118

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  49. Content type: Research article

    Omphalocele is a congenital midline ventral body wall defect that can exist as isolated malformation or as part of a syndrome. It can be considered one of the major and most frequent clinical manifestation of ...

    Authors: Maria Francesca Bedeschi, Mariarosaria Calvello, Leda Paganini, Lidia Pezzani, Marco Baccarin, Laura Fontana, Silvia M. Sirchia, Silvana Guerneri, Lorena Canazza, Ernesto Leva, Lorenzo Colombo, Faustina Lalatta, Fabio Mosca, Silvia Tabano and Monica Miozzo

    Citation: BMC Medical Genetics 2017 18:115

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