Allele-specific methylation of SSTR4 associated with aging and cognitive functions in patients with schizophrenia. by Rongrong Zhao, Huihui Shi, Yanqiu Wang, Tao Jiang, Yahui Xu

“…Previous research has suggested a genetic and epigenetic overlap between these two disorders. …”
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A Dysmorphic Child with a Pericentric Inversion of Chromosome 8 by Venkateshwari Ananthapur, Srilekha Avvari, Sujatha Madireddi, Pratibha Nallari, Jyothy Akka

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Three Siblings with Prader-Willi Syndrome: Brief Review of Sleep and Prader-Willi Syndrome by Arina Bingeliene, Colin M. Shapiro, Sharon A. Chung

“…Prader-Willi syndrome (PWS) is a genetic disorder characterized by short stature, mental retardation, hypotonia, functionally deficient gonads, and uncontrolled appetite leading to extreme obesity at an early age. …”
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A 16-Day-Old Infant with a Clinical Diagnosis of Classical Cornelia de Lange Syndrome by Pamela Rodríguez, Karla Asturias

“…Cornelia de Lange syndrome (CdLS) is a rare syndromic genetic disorder characterized by multiple congenital anomalies with upper limb reduction defects, along with cardiac, gastrointestinal, and genitourinary defects. …”
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Evaluation of common COL2A1 gene variants in Iranian patients suspected with Stickler syndrome type I by Fatemeh Abolhasani, Hossein Abdali, Mohammad Kazemi, Bijan Movahedian Attar, Fatemeh Derakhshandeh, Majid Hosseinzadeh

“…Genetic analysis is helpful for the diagnosis of this clinically variable and genetically heterogeneous disorder.…”
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Familial Occurrence of Lymphocytic Colitis by Hugh J Freeman

“…The familial occurrence of lymphocytic colitis in a female parent and her two female children is reported. No other genetically based disorder, including celiac disease, was evident. …”
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Involvement and Therapeutic Potential of the GABAergic System in the Fragile X Syndrome by Inge Heulens, Charlotte D'Hulst, Sien Braat, Liesbeth Rooms, R. Frank Kooy

“…The recent observation that the GABAA receptor is underexpressed in the fragile X syndrome, an inherited mental retardation disorder, therefore raised hopes for targeted therapy of the disorder. …”
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Screening Children with a Family History of Central Congenital Hypoventilation Syndrome by Hina Emanuel, Kimberly Rennie, Kelly Macdonald, Aravind Yadav, Ricardo A. Mosquera

“…Congenital central hypoventilation syndrome (CCHS) is a rare genetic disorder of an autonomic nervous disorder that affects breathing. …”
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A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases by Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS

“…We discussed the importance of providing genetic counseling to parents of children with this and other rare, autosomal recessive disorders to prevent new cases from appearing.…”
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Idiopathic Gingival Hyperplasia: A Case Report with a 17-Year Followup by Bien Lai, Joseph Muenzer, Michael W. Roberts

“…This is a case report of a patient with idiopathic gingival hyperplasia and an undiagnosed genetic disorder that demonstrated static encephalopathy, mental retardation, developmental delay, seizures, hypotonia, and severe gingival hypertrophy. …”
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EFFECT OF PHAGOTHERAPY IN A PATIENT WITH ATOPIC DERMATITIS: A CLINICAL CASE STUDY by Сергей Федорович Гладков, Нина Константиновна Перевощикова, Наталья Степановна Черных

“…As one of the most common dermatoses in children, atopic dermatitis (AD) is a multifactorial immune-mediated disorder caused by complex mechanisms of interaction between genetic and environmental factors. …”
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Novel variant of FBN2 in a patient with congenital contractual arachnodactyly by Mina Nakama, Yuki Miwa, Sayaka Manabe, Shigeru Shimamoto, Hidenori Ohnishi

“…Abstract Congenital contractual arachnodactyly (CCA) is a genetic connective tissue disorder that is characterized by arachnodactyly, kyphoscoliosis, marfanoid habitus, and crumpled ears. …”
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Mitochondrial Neurogastrointestinal Encephalomyopathy: Novel Pathogenic Mutation in Thymidine Phosphorylase Gene in a Patient from Cape Verde Islands by Catarina Falcão de Campos, Miguel Oliveira Santos, Rafael Roque, Isabel Conceição, Mamede de Carvalho

“…Mitochondrial Neurogastrointestinal Encephalomyopathy (MNGIE) is a rare autosomal recessive disorder caused by mutations in the gene encoding the Thymidine Phosphorylase (TP). …”
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Measuring Measuring iron concentration in the blood samples of some autistic children from Baghdad City by Ezzuldin sulaiman, Hind Suhail Abdulhay

“…Possible causes for this condition include specific drugs, genetic disorders, or the dietary habits of the ASD. …”
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Perrault Syndrome Diagnosis in a Patient Presenting to Her Primary Care Provider with Secondary Amenorrhea by Leah May Roberts, Bruce Carnivale

“…Perrault syndrome is a rare autosomal recessive genetic disorder characterized by sensorineural hearing loss and female gonadic eukaryotic dysgenesis. …”
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Schizophrenia and Hyperostosis Frontalis Interna with History of Head Injury by Fatima Elghazouani

“…We surmise that the long-term pathological effects of traumatic brain injury, including hyperostosis frontalis interna, are likely to interact with genetic vulnerability and may lead to schizophrenic disorder.…”
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Familial Multiple Sclerosis with Repetitive Relapses of Manic Psychosis in Two Patients (Mother and Daughter) by Pedro J. Modrego, Jaime Ferrández

“…The clinical presentation of multiple sclerosis (MS) with psychiatric symptoms is uncommon but it is believed that MS patients are twice as likely to be afflicted with bipolar disorder as the general population. We report two cases (mother and daughter) of MS presenting with bipolar disorder in the form of recurrent manic psychosis and whose outcome was favourable with neuroleptics and corticosteroids. …”
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Delineating Novel Signature Patterns of Altered Gene Expression in Schizophrenia Using Gene Microarrays by Karoly Mirnics, Frank A. Middleton, David A. Lewis, Pat Levitt

“…Schizophrenia is a complex and devastating brain disorder that affects 1% of the population and ranks as one of the most costly disorders to afflict humans. …”
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ARV1 p.Gln62Ter, a novel mutation linked to developmental and epileptic encephalopathy-38 by Mostafa Neissi, Ayoob Radhi Al-Zaalan, Misagh Mohammadi-Asl, Mojdeh Roghani, Javad Mohammadi-Asl, Kamele Jorfi

“…Abstract Developmental and epileptic encephalopathy is a rare and severe form of inherited neurodegenerative disorder characterized by various forms of seizures. …”
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Role of BDNF-mTORC1 Signaling Pathway in Female Depression by Xianquan An, Xiaoxiao Yao, Bingjin Li, Wei Yang, Ranji Cui, Guoqing Zhao, Yang Jin

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