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Clinical-Molecular Genetics and Cytogenetics

This section considers studies of the structure and function of genes and chromosomes, with relation to human health and disease and the role of genetic mutations and cytogenetic changes in human genetic disorders.

Page 9 of 12

  1. Chromosomal deletions encompassing DYRK1A have been associated with intellectual disability for several years. More recently, point mutations in DYRK1A have been shown to be responsible for a recognizable syndrom...

    Authors: Stephanie M. Luco, Daniela Pohl, Erick Sell, Justin D. Wagner, David A. Dyment and Hussein Daoud

    Citation: BMC Medical Genetics 2016 17:15

    Content type: Case report

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  2. Dyschromatosis symmetrica hereditaria (DSH) is a rare autosomal dominant cutaneous disorder caused by the mutations of adenosine deaminase acting on RNA1 (ADAR1) gene. We present a clinical and genetic study of s...

    Authors: Guolong Zhang, Minhua Shao, Zhixiu Li, Yong Gu, Xufeng Du, Xiuli Wang and Ming Li

    Citation: BMC Medical Genetics 2016 17:14

    Content type: Research article

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  3. Nonphotosensitive trichothiodystrophy (TTDN) is a rare autosomal recessive disorder of neuroectodermal origin. The condition is marked by hair abnormalities, intellectual impairment, nail dystrophies and susce...

    Authors: Khadim Shah, Raja Hussain Ali, Muhammad Ansar, Kwanghyuk Lee, Muhammad Salman Chishti, Izoduwa Abbe, Biao Li, Joshua D. Smith, Deborah A. Nickerson, Jay Shendure, Paul J. Coucke, Wouter Steyaert, Michael J. Bamshad, Regie Lyn P. Santos-Cortez, Suzanne M. Leal and Wasim Ahmad

    Citation: BMC Medical Genetics 2016 17:13

    Content type: Research article

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  4. Bardet Biedl Syndrome (BBS) is a rare condition of multi-organ dysfunction with characteristic clinical features of retinal degeneration, truncal obesity, postaxial polydactyly, genital anomaly, intellectual d...

    Authors: Muzammil Ahmad Khan, Sumitra Mohan, Muhammad Zubair and Christian Windpassinger

    Citation: BMC Medical Genetics 2016 17:10

    Content type: Research article

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  5. Argininosuccinic aciduria (ASAuria; OMIM 207900) is a rare autosomal recessive heterogeneous urea cycle disorder, which leads to the accumulation of argininosuccinic acid in the blood and urine. We aimed to pe...

    Authors: Wei Wen, Dan Yin, Fangfang Huang, Meng Guo, Tian Tian, Hui Zhu and Yun Yang

    Citation: BMC Medical Genetics 2016 17:9

    Content type: Case report

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  6. Heterozygous mutations in CNTNAP2 have been identified in patients with a range of complex phenotypes including intellectual disability, autism and schizophrenia. However heterozygous CNTNAP2 mutations are also f...

    Authors: Pedro Rodenas-Cuadrado, Nicola Pietrafusa, Teresa Francavilla, Angela La Neve, Pasquale Striano and Sonja C. Vernes

    Citation: BMC Medical Genetics 2016 17:8

    Content type: Case report

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  7. One of the causes of sensorineural hearing loss (SNHL) is degeneration of the inner hair cells in the organ of Corti in the cochlea. The SLC17A8 (solute carrier family 17, member 8) gene encodes vesicular glutama...

    Authors: Nari Ryu, Borum Sagong, Hong-Joon Park, Min-A Kim, Kyu-Yup Lee, Jae Young Choi and Un-Kyung Kim

    Citation: BMC Medical Genetics 2016 17:6

    Content type: Research article

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  8. Hemangioma is a common benign tumor in the childhood; however our knowledge about the molecular mechanisms of hemangioma development and progression are still limited. Currently, microRNAs (miRNAs) have been s...

    Authors: Natália Bertoni, Lied M. S. Pereira, Fábio E. Severino, Regina Moura, Winston B. Yoshida and Patricia P. Reis

    Citation: BMC Medical Genetics 2016 17:4

    Content type: Research article

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  9. Familial dilated cardiomyopathy (DCM) is genetically heterogeneous. Mutations in more than 40 genes have been identified in familial cases, mostly inherited in an autosomal dominant pattern. DCM due to recessi...

    Authors: Zuhair N. Al-Hassnan, Zarghuna MA. Shinwari, Salma M. Wakil, Sahar Tulbah, Shamayel Mohammed, Zuhair Rahbeeni, Mohammed Alghamdi, Monther Rababh, Dilek Colak, Namik Kaya, Majid Al-Fayyadh and Jehad Alburaiki

    Citation: BMC Medical Genetics 2016 17:3

    Content type: Research article

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  10. The widespread adoption of high-throughput sequencing technologies by genetic diagnostic laboratories has enabled significant expansion of their testing portfolios. Rare autosomal recessive conditions have bee...

    Authors: Christopher M. Watson, Laura A. Crinnion, Ian R. Berry, Sally M. Harrison, Carolina Lascelles, Agne Antanaviciute, Ruth S. Charlton, Angus Dobbie, Ian M. Carr and David T. Bonthron

    Citation: BMC Medical Genetics 2016 17:1

    Content type: Research article

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  11. Arrhythmogenic Right Ventricular Cardiomyopathy (ARVC) is an inherited disease mainly found in young people causing malignant arrhythmias which can result in sudden cardiac death. Due to unspecific symptoms th...

    Authors: Teresa Trenkwalder, Isabel Deisenhofer, Martin Hadamitzky, Heribert Schunkert and Wibke Reinhard

    Citation: BMC Medical Genetics 2015 16:117

    Content type: Case report

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  12. Deletions of the α-globin genes are the most common genetic abnormalities in the world. Currently multiplex Gap-PCRs are frequently used to identify specific sets of common deletions. However, these assays req...

    Authors: Andrew Turner, Jurgen Sasse and Aniko Varadi

    Citation: BMC Medical Genetics 2015 16:115

    Content type: Technical advance

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  13. Pathogenic mutations in FBN1, encoding the glycoprotein, fibrillin-1, cause Marfan syndrome (MFS) and related connective tissue disorders. In the present study, qualitative and quantitative effects of 16 mutation...

    Authors: Lena Tjeldhorn, Silja Svanstrøm Amundsen, Tuva Barøy, Svend Rand-Hendriksen, Odd Geiran, Eirik Frengen and Benedicte Paus

    Citation: BMC Medical Genetics 2015 16:113

    Content type: Research article

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  14. The deletion of the chromosome 4p16.3 Wolf-Hirschhorn syndrome critical region (WHSCR-2) typically results in a characteristic facial appearance, varying intellectual disability, stereotypies and prenatal onse...

    Authors: Thomas Iype, Vafa Alakbarzade, Mary Iype, Royana Singh, Ajith Sreekantan-Nair, Barry A. Chioza, Tribhuvan M. Mohapatra, Emma L. Baple, Michael A. Patton, Thomas T. Warner, Christos Proukakis, Abhi Kulkarni and Andrew H. Crosby

    Citation: BMC Medical Genetics 2015 16:104

    Content type: Research article

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  15. In humans, Mammalian Target of Rapamycin (MTOR) encodes a 300 kDa serine/ threonine protein kinase that is ubiquitously expressed, particularly at high levels in brain. MTOR functions as an integrator of multiple...

    Authors: Cameron Mroske, Kristen Rasmussen, Deepali N. Shinde, Robert Huether, Zoe Powis, Hsiao-Mei Lu, Ruth M. Baxter, Elizabeth McPherson and Sha Tang

    Citation: BMC Medical Genetics 2015 16:102

    Content type: Case report

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  16. Spinal muscular atrophy (SMA) is the most common pan-ethnic cause of early childhood death due to mutations in a single gene, SMN1. Most chromosome 5 homologs have a functional gene and dysfunctional copy, SMN2, ...

    Authors: Jessica L. Larson, Ari J. Silver, Dalin Chan, Carlos Borroto, Brett Spurrier and Lee M. Silver

    Citation: BMC Medical Genetics 2015 16:100

    Content type: Technical advance

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  17. Pulmonary capillary hemangiomatosis (PCH) is an uncommon pulmonary disorder, with variable clinical features depending on which lung structure is affected, and it is usually linked to pulmonary arterial hypert...

    Authors: Patrizia Dello Russo, Alessandra Franzoni, Federica Baldan, Cinzia Puppin, Giovanna De Maglio, Carla Pittini, Luigi Cattarossi, Stefano Pizzolitto and Giuseppe Damante

    Citation: BMC Medical Genetics 2015 16:94

    Content type: Case report

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  18. Chromosome instability syndromes are a group of inherited conditions associated with chromosomal instability and breakage, often leading to immunodeficiency, growth retardation and increased risk of malignancy.

    Authors: Isabelle Thiffault, Carol Saunders, Janda Jenkins, Nikita Raje, Kristi Canty, Mukta Sharma, Lauren Grote, Holly I Welsh, Emily Farrow, Greyson Twist, Neil Miller, David Zwick, Lee Zellmer, Stephen F Kingsmore and Nicole P Safina

    Citation: BMC Medical Genetics 2015 16:31

    Content type: Case report

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  19. Beckwith-Wiedemann syndrome (BWS) is a rare pediatric overgrowth disorder with a variable clinical phenotype caused by deregulation affecting imprinted genes in the chromosomal region 11p15. Alterations of the...

    Authors: Helen Fryssira, Stella Amenta, Deniz Kanber, Christalena Sofocleous, Evangelia Lykopoulou, Christina Kanaka-Gantenbein, Flavia Cerrato, Hermann-Josef Lüdecke, Susanne Bens, Andrea Riccio and Karin Buiting

    Citation: BMC Medical Genetics 2015 16:30

    Content type: Case report

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  20. Mutations in CCBE1 have been found to be responsible for a subset of families with autosomal recessive Hennekam syndrome. Hennekam syndrome is defined as the combination of generalized lymphatic dysplasia (ie. ly...

    Authors: Patrick Frosk, Bernard Chodirker, Louise Simard, Wael El-Matary, Ana Hanlon-Dearman, Jeremy Schwartzentruber, Jacek Majewski and Cheryl Rockman-Greenberg

    Citation: BMC Medical Genetics 2015 16:28

    Content type: Case report

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  21. Waardenburg syndrome type I (WS1), an auditory-pigmentary genetic disorder, is caused by heterozygous loss-of-function mutations in PAX3. Abnormal physical signs such as dystopia canthorum, patchy hypopigmentatio...

    Authors: Chuan Li, Rongyu Chen, Xin Fan, Jingsi Luo, Jiale Qian, Jin Wang, Bobo Xie, Yiping Shen and Shaoke Chen

    Citation: BMC Medical Genetics 2015 16:23

    Content type: Case report

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  22. In humans mutations in the PLN gene, encoding phospholamban - a regulator of sarcoplasmic reticulum calcium ATPase (SERCA), cause cardiomyopathy with prevalence depending on the population. Our purpose was to ide...

    Authors: Grażyna T Truszkowska, Zofia T Bilińska, Joanna Kosińska, Justyna Śleszycka, Małgorzata Rydzanicz, Małgorzata Sobieszczańska-Małek, Maria Franaszczyk, Maria Bilińska, Piotr Stawiński, Ewa Michalak, Łukasz A Małek, Przemysław Chmielewski, Bogna Foss-Nieradko, Marcin M Machnicki, Tomasz Stokłosa, Joanna Ponińska…

    Citation: BMC Medical Genetics 2015 16:21

    Content type: Research article

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  23. Copy number variations (CNVs) can contribute to genetic variation among individuals and/or have a significant influence in causing diseases. Many studies consider new CNVs’ effects on protein family evolution ...

    Authors: Maria Rosaria D’Apice, Antonio Novelli, Alessandra di Masi, Michela Biancolella, Antonio Antoccia, Francesca Gullotta, Norma Licata, Daniela Minella, Barbara Testa, Anna Maria Nardone, Giampiero Palmieri, Emma Calabrese, Livia Biancone, Caterina Tanzarella, Marina Frontali, Federica Sangiuolo…

    Citation: BMC Medical Genetics 2015 16:20

    Content type: Case report

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  24. Hereditary ataxias are a heterogeneous group of neurodegenerative disorders, where exome sequencing may become an important diagnostic tool to solve clinically or genetically complex cases.

    Authors: Cecilia Mancini, Laura Orsi, Yiran Guo, Jiankang Li, Yulan Chen, Fengxiang Wang, Lifeng Tian, Xuanzhu Liu, Jianguo Zhang, Hui Jiang, Bruce Shike Nmezi, Takashi Tatsuta, Elisa Giorgio, Eleonora Di Gregorio, Simona Cavalieri, Elisa Pozzi…

    Citation: BMC Medical Genetics 2015 16:16

    Content type: Research article

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  25. Primary Ciliary Dyskinesia (PCD) is a genetically heterogeneous ciliopathy caused by ultrastructural defects in ciliary or flagellar structure and is characterized by a number of clinical symptoms including re...

    Authors: Faiqa Imtiaz, Rabab Allam, Khushnooda Ramzan and Moeenaldeen Al-Sayed

    Citation: BMC Medical Genetics 2015 16:14

    Content type: Case report

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  26. Int22h1/int22h2-mediated Xq28 duplication syndrome is caused by ~0.5 Mb chromosomal duplications mediated by nonallelic homologous recombination between intron 22 homologous region 1 (int22h1) and 2 (int22h2), wh...

    Authors: Ayman W El-Hattab, Christian P Schaaf, Ping Fang, Elizabeth Roeder, Virginia E Kimonis, Joseph A Church, Ankita Patel and Sau Wai Cheung

    Citation: BMC Medical Genetics 2015 16:12

    Content type: Research article

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  27. Raine syndrome (RS) is a rare autosomal recessive bone dysplasia typified by osteosclerosis and dysmorphic facies due to FAM20C mutations. Initially reported as lethal in infancy, survival is possible into adulth...

    Authors: Ana Carolina Acevedo, James A Poulter, Priscila Gomes Alves, Caroline Lourenço de Lima, Luiz Claudio Castro, Paulo Marcio Yamaguti, Lilian M Paula, David A Parry, Clare V Logan, Claire E L Smith, Colin A Johnson, Chris F Inglehearn and Alan J Mighell

    Citation: BMC Medical Genetics 2015 16:8

    Content type: Research article

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  28. Congenital heart diseases (CHDs) usually refer to abnormalities in the structure and/or function of the heart that arise before birth. GATA4 plays an important role in embryonic heart development, hence the aim o...

    Authors: Saidulu Mattapally, Sheikh Nizamuddin, Kona Samba Murthy, Kumarasamy Thangaraj and Sanjay K Banerjee

    Citation: BMC Medical Genetics 2015 16:7

    Content type: Research article

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  29. Keratinocytic epidermal nevus syndrome (KENS) is a complex disorder not only characterized by the presence of epidermal nevi but also by abnormalities in the internal organ systems. A small number of cases wit...

    Authors: Said Farschtschi, Victor-Felix Mautner, Silke Hollants, Christian Hagel, Marijke Spaepen, Christoph Schulte, Eric Legius and Hilde Brems

    Citation: BMC Medical Genetics 2015 16:6

    Content type: Case report

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  30. Coats plus syndrome is an autosomal recessive, pleiotropic, multisystem disorder characterized by retinal telangiectasia and exudates, intracranial calcification with leukoencephalopathy and brain cysts, osteo...

    Authors: Manjunath Netravathi, Renu Kumari, Saketh Kapoor, Pushkar Dakle, Manish Kumar Dwivedi, Sumitabho Deb Roy, Paritosh Pandey, Jitender Saini, Anil Ramakrishna, Devaraddi Navalli, Parthasarathy Satishchandra, Pramod Kumar Pal, Arun Kumar and Mohammed Faruq

    Citation: BMC Medical Genetics 2015 16:5

    Content type: Case report

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  31. Mutations in the two MT-RNR genes in mitochondrial DNA can cause hearing impairment that presents with variable severity and age of onset. In order to study the prevalence of mutations in MT-RNR1 and MT-RNR2 gene...

    Authors: Sanna Häkli, Mirja Luotonen, Martti Sorri and Kari Majamaa

    Citation: BMC Medical Genetics 2015 16:3

    Content type: Research article

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  32. Breast cancer is the most frequent oncological disease among women. Estrogens are known to play an important role in breast cancer development. Recognition of the relationship between polymorphisms within estr...

    Authors: Aistė Savukaitytė, Rasa Ugenskienė, Roberta Jankauskaitė, Darius Čereškevičius, Eglė Šepetauskienė and Elona Juozaitytė

    Citation: BMC Medical Genetics 2015 16:2

    Content type: Research article

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  33. The BRAF V600E mutation is reportedly associated with inferior survival among colon cancer patients. Here we report a patient with rectal cancer who carried the novel BRAF mutation VK600–601E, which has analogous...

    Authors: Yoshiko Mori, Takeshi Nagasaka, Hideyuki Mishima, Yuzo Umeda, Ryo Inada, Hiroyuki Kishimoto, Ajay Goel and Toshiyoshi Fujiwara

    Citation: BMC Medical Genetics 2015 16:1

    Content type: Case report

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  34. Trisomy 9p is one of the most common partial trisomies found in newborns. We report the clinical features and cytogenomic findings in five patients with different chromosome rearrangements resulting in complet...

    Authors: Roberta Santos Guilherme, Vera Ayres Meloni, Ana Beatriz Alvarez Perez, Ana Luiza Pilla, Marco Antonio Paula de Ramos, Anelisa Gollo Dantas, Sylvia Satomi Takeno, Leslie Domenici Kulikowski and Maria Isabel Melaragno

    Citation: BMC Medical Genetics 2014 15:142

    Content type: Research article

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  35. Pompe disease is an autosomal recessive lysosomal glycogen storage disorder that has been reported in different ethnic populations which carry different common mutations of the acid alpha-glucosidase (GAA) gene. ...

    Authors: Xiao Liu, Zhaoxia Wang, Weina Jin, He Lv, Wei Zhang, Chengli Que, Yu Huang and Yun Yuan

    Citation: BMC Medical Genetics 2014 15:141

    Content type: Research article

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  36. DAVID syndrome is a rare condition combining anterior pituitary hormone deficiency with common variable immunodeficiency. NFKB2 mutations have recently been identified in patients with ACTH and variable immunodef...

    Authors: Thierry Brue, Marie-Hélène Quentien, Konstantin Khetchoumian, Marco Bensa, José-Mario Capo-Chichi, Brigitte Delemer, Aurelio Balsalobre, Christina Nassif, Dimitris T Papadimitriou, Anne Pagnier, Caroline Hasselmann, Lysanne Patry, Jeremy Schwartzentruber, Pierre-François Souchon, Shinobu Takayasu, Alain Enjalbert…

    Citation: BMC Medical Genetics 2014 15:139

    Content type: Research article

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  37. Inherited thrombocytopenias (IT) are a heterogeneous group of rare diseases characterized by a reduced number of blood platelets. The frequency of IT is probably underestimated because of diagnostic difficulti...

    Authors: Hanan Hamamy, Periklis Makrythanasis, Nasir Al-Allawi, Abdulrahman A Muhsin and Stylianos E Antonarakis

    Citation: BMC Medical Genetics 2014 15:135

    Content type: Case report

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  38. The MedSeq Project is a randomized clinical trial developing approaches to assess the impact of integrating genome sequencing into clinical medicine. To facilitate the return of results of potential medical re...

    Authors: Heather M McLaughlin, Ozge Ceyhan-Birsoy, Kurt D Christensen, Isaac S Kohane, Joel Krier, William J Lane, Denise Lautenbach, Matthew S Lebo, Kalotina Machini, Calum A MacRae, Danielle R Azzariti, Michael F Murray, Christine E Seidman, Jason L Vassy, Robert C Green and Heidi L Rehm

    Citation: BMC Medical Genetics 2014 15:134

    Content type: Research article

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  39. Cerebral palsy (CP) is a heterogeneous neurodevelopmental disorder associated with intellectual disability in one-third of cases. Recent findings support Mendelian inheritance in subgroups of patients with the...

    Authors: Muhammad Jameel, Joakim Klar, Muhammad Tariq, Abubakar Moawia, Naveed Altaf Malik, Syeda Seema Waseem, Uzma Abdullah, Tahir Naeem Khan, Raili Raininko, Shahid Mahmood Baig and Niklas Dahl

    Citation: BMC Medical Genetics 2014 15:133

    Content type: Research article

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  40. Most PCR-based diagnostics are still considered time- and labor-intensive due to disparate purification, amplification, and detection steps. Advancements in PCR enzymes and buffer chemistry have increased inhi...

    Authors: Christopher M Connelly, Laura R Porter and Joel R TerMaat

    Citation: BMC Medical Genetics 2014 15:130

    Content type: Technical advance

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  41. Deletions or duplications of chromosome 19 are rare and there is no previous report in the literature of a ring chromosome derived from proximal 19p. Copy Number Variants (CNVs) responsible for complex phenoty...

    Authors: Caroline Demily, Massimiliano Rossi, Gabrielle Chesnoy-Servanin, Brice Martin, Alice Poisson, Damien Sanlaville and Patrick Edery

    Citation: BMC Medical Genetics 2014 15:132

    Content type: Case report

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  42. Autosomal dominant polycystic kidney disease (ADPKD) is the most common inherited kidney disorder. It is caused by mutations in the PKD1 and PKD2 genes, and manifests as progressive cyst growth and renal enlargem...

    Authors: Rihwa Choi, Hayne Cho Park, Kyunghoon Lee, Myoung-Gun Lee, Jong-Won Kim, Chang-Seok Ki, Young-Hwan Hwang and Curie Ahn

    Citation: BMC Medical Genetics 2014 15:129

    Content type: Research article

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  43. Point mutations or genomic deletions of FOXF1 result in a lethal developmental lung disease Alveolar Capillary Dysplasia with Misalignment of Pulmonary Veins. However, the clinical consequences of the constitutiv...

    Authors: Avinash V Dharmadhikari, Tomasz Gambin, Przemyslaw Szafranski, Wenjian Cao, Frank J Probst, Weihong Jin, Ping Fang, Krzysztof Gogolewski, Anna Gambin, Jaya K George-Abraham, Sailaja Golla, Francoise Boidein, Benedicte Duban-Bedu, Bruno Delobel, Joris Andrieux, Kerstin Becker…

    Citation: BMC Medical Genetics 2014 15:128

    Content type: Research article

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  44. Floating-Harbor syndrome is a rare autosomal dominant short stature syndrome with retarded speech development, intellectual disability and dysmorphic facial features. Recently dominant mutations almost exclusi...

    Authors: Wenke Seifert, Peter Meinecke, Gabriele Krüger, Eva Rossier, Wolfram Heinritz, Achim Wüsthof and Denise Horn

    Citation: BMC Medical Genetics 2014 15:127

    Content type: Research article

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  45. Increasing number of case reports of mosaic mutations and deletions have better armed clinicians and geneticists with more accurate and focused prenatal diagnoses. Since mosaicism means a significant increase ...

    Authors: Shiyu Luo, Wen Huang, Qiuping Xia, Yan Xia, Qian Du, Lingqian Wu and Ranhui Duan

    Citation: BMC Medical Genetics 2014 15:125

    Content type: Case report

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  46. No abstract

    Authors: Linda Siggberg, Sirpa Ala-Mello, Tarja Linnankivi, Kristiina Avela, Ilari Scheinin, Kati Kristiansson, Päivi Lahermo, Marja Hietala, Liisa Metsähonkala, Esa Kuusinen, Maarit Laaksonen, Janna Saarela and Sakari Knuutila

    Citation: BMC Medical Genetics 2014 15:124

    Content type: Erratum

    Published on:

    The original article was published in BMC Medical Genetics 2012 13:84

  47. Arterial Tortuosity Syndrome (ATS) is a very rare autosomal recessive connective tissue disorder (CTD) characterized by tortuosity and elongation of the large- and medium-sized arteries and a propensity for an...

    Authors: Marco Ritelli, Nicola Chiarelli, Chiara Dordoni, Elena Reffo, Marina Venturini, Stefano Quinzani, Matteo Della Monica, Gioacchino Scarano, Giuseppe Santoro, Maria Giovanna Russo, Piergiacomo Calzavara-Pinton, Ornella Milanesi and Marina Colombi

    Citation: BMC Medical Genetics 2014 15:122

    Content type: Case report

    Published on:

  48. We and others have previously reported that familial cytogenetic studies in apparently de novo genomic imbalances may reveal complex or uncommon inheritance mechanisms.

    Authors: Alicia Delicado, Luis Fernández, María Luisa de Torres, Julián Nevado, Fe Amalia García-Santiago, Roberto Rodríguez, Elena Mansilla, María Palomares, Fernando Santos-Simarro, Elena Vallespín, María Ángeles Mori and Pablo Lapunzina

    Citation: BMC Medical Genetics 2014 15:116

    Content type: Research article

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  49. The fragile X syndrome (FXS) results from mutation of the FMR1 gene that prevents expression of its gene product, FMRP. We previously characterized 215 dried blood spots (DBS) representing different FMR1 genot...

    Authors: Tatyana Adayev, Giuseppe LaFauci, Carl Dobkin, Michele Caggana, Veronica Wiley, Michael Field, Tiffany Wotton, Richard Kascsak, Sarah L Nolin, Anne Glicksman, Nicole Hosmer and W Ted Brown

    Citation: BMC Medical Genetics 2014 15:119

    Content type: Research article

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