Search Results - "Hossain, Waheeda A."
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Chromosomal Microarray Study in Prader-Willi Syndrome
Published in International journal of molecular sciences (07-01-2023)“…A high-resolution chromosome microarray analysis was performed on 154 consecutive individuals enrolled in the DESTINY PWS clinical trial for Prader-Willi…”
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Mowat-Wilson Syndrome: Case Report and Review of ZEB2 Gene Variant Types, Protein Defects and Molecular Interactions
Published in International journal of molecular sciences (29-02-2024)“…Mowat-Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder associated with various defects of the zinc finger E-box binding homeobox…”
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Genomic, Clinical, and Behavioral Characterization of 15q11.2 BP1-BP2 Deletion (Burnside-Butler) Syndrome in Five Families
Published in International journal of molecular sciences (07-02-2021)“…The 15q11.2 BP1-BP2 deletion (Burnside-Butler) syndrome is emerging as the most common cytogenetic finding in patients with neurodevelopmental or autism…”
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4
Connective Tissue Disorders and Fragile X Molecular Status in Females: A Case Series and Review
Published in International journal of molecular sciences (13-08-2022)“…Fragile X syndrome (FXS) is the most common inherited cause of intellectual disabilities and the second most common cause after Down syndrome. FXS is an…”
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Clinical genetics evaluation and testing of connective tissue disorders: a cross-sectional study
Published in BMC medical genomics (02-08-2022)“…Abstract Background Heritable connective tissue disorders (HCTDs) consist of heterogeneous syndromes. The diagnosis of HCTDs is aided by genomic…”
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A Streamlined Approach to Prader-Willi and Angelman Syndrome Molecular Diagnostics
Published in Frontiers in genetics (11-05-2021)“…Establishing or ruling out a molecular diagnosis of Prader–Willi or Angelman syndrome (PWS/AS) presents unique challenges due to the variety of different…”
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Sex-Dimorphic Interactions of MAOA Genotype and Child Maltreatment Predispose College Students to Polysubstance Use
Published in Frontiers in genetics (17-01-2020)“…Polysubstance use (PSU) is highly prevalent among college students. Recent evidence indicates that PSU is based on gene x environment (G×E) interactions, yet…”
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Where Is the Spike Generator of the Cochlear Nerve? Voltage-Gated Sodium Channels in the Mouse Cochlea
Published in The Journal of neuroscience (20-07-2005)“…The origin of the action potential in the cochlea has been a long-standing puzzle. Because voltage-dependent Na+ (Nav) channels are essential for action…”
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Molecular genetic classification in Prader-Willi syndrome: a multisite cohort study
Published in Journal of medical genetics (01-03-2019)“…Prader-Willi syndrome (PWS) is due to errors in genomic imprinting. PWS is recognised as the most common known genetic cause of life-threatening obesity. This…”
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Next‐generation sequencing and analysis of consecutive patients referred for connective tissue disorders
Published in American journal of medical genetics. Part A (01-10-2022)“…Heritable connective tissue disorders (HCTDs) consist of a wide array of genetic disorders such as Ehlers–Danlos syndrome, Marfan syndrome, and osteogenesis…”
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ADAMTSL2 gene variant in patients with features of autosomal dominant connective tissue disorders
Published in American journal of medical genetics. Part A (01-03-2021)“…Ehlers‐Danlos syndrome (EDS) consists of a heterogeneous group of genetically inherited connective tissue disorders. A family with three affected members over…”
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Three siblings with Prader–Willi syndrome caused by imprinting center microdeletions and review
Published in American journal of medical genetics. Part A (01-04-2018)“…Prader–Willi syndrome (PWS) is a complex genetic imprinting disorder characterized by childhood obesity, short stature, hypogonadism/hypogenitalism, hypotonia,…”
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Preliminary observations of mitochondrial dysfunction in Prader–Willi syndrome
Published in American journal of medical genetics. Part A (01-12-2018)“…Prader–Willi syndrome (PWS) is a complex multisystem disorder because of errors in genomic imprinting with severe hypotonia, decreased muscle mass, poor…”
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Analysis of the Prader–Willi syndrome imprinting center using droplet digital PCR and next‐generation whole‐exome sequencing
Published in Molecular genetics & genomic medicine (01-04-2019)“…Background Detailed analysis of imprinting center (IC) defects in individuals with Prader–Willi syndrome (PWS) is not readily available beyond chromosomal…”
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Relationship between Body Habitus and Aggression Subtypes among Healthy Young Adults from the American Midwest
Published in Journal of aggression, maltreatment & trauma (20-10-2020)“…This study examined associations between body habitus and functions of aggression, in a sample of 474 college students from the Midwestern region of the United…”
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A descriptive study on selected growth parameters and growth hormone receptor gene in healthy young adults from the American Midwest
Published in Growth hormone & IGF research (01-08-2018)“…The first study of growth hormone receptor (GHR) genotypes in healthy young adults in the United States attending a Midwestern university and impact on…”
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Interactive roles of fibroblast growth factor 2 and neurotrophin 3 in the sequence of migration, process outgrowth, and axonal differentiation of mouse cochlear ganglion cells
Published in Journal of neuroscience research (15-08-2008)“…A growth factor may have different actions depending on developmental stage. We investigated this phenomenon in the interactions of fibroblast growth factor 2…”
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Biotinidase reveals the morphogenetic sequence in cochlea and cochlear nucleus of mice
Published in Hearing research (01-11-2005)“…Hearing loss affects children with biotinidase deficiency, an inherited metabolic disorder in the recycling of biotin. The deficit appears shortly after birth…”
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Mowat–Wilson Syndrome: Case Report and Review of IZEB2/I Gene Variant Types, Protein Defects and Molecular Interactions
Published in International journal of molecular sciences (01-02-2024)“…Mowat–Wilson syndrome (MWS) is a rare genetic neurodevelopmental congenital disorder associated with various defects of the zinc finger E-box binding homeobox…”
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Intracellular fibroblast growth factor produces effects different from those of extracellular application on development of avian cochleovestibular ganglion cells in vitro
Published in Journal of neuroscience research (01-03-2003)“…In an avian coculture system, the neuronal precursors of the cochleovestibular ganglion typically migrated from the otocyst and differentiated in response to…”
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