Prenatal diagnostic testing of the Noonan syndrome genes in fetuses with abnormal ultrasound findings
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چکیده
منابع مشابه
Abnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome
Introduction: Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist.Case Report: We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words. ...
متن کاملHematological findings in Noonan syndrome.
OBJECTIVE Noonan syndrome is a multiple congenital anomaly syndrome, and bleeding diathesis is considered part of the clinical findings. The purpose of this study was to determine the frequency of hemostatic abnormalities in a group of Noonan syndrome patients. METHOD We studied 30 patients with clinical diagnosis of Noonan syndrome regarding their hemostatic status consisting of bleeding tim...
متن کاملabnormal auditory brainstem response (abr) findings in a near-normal hearing child with noonan syndrome
introduction: noonan syndrome (ns) is a heterogeneous genetic disease that affects many parts of the body. it was named after dr. jacqueline anne noonan, a paediatric cardiologist.case report: we report audiological tests and auditory brainstem response (abr) findings in a 5-year old malay boy with ns. despite showing the marked signs of ns, the child could only produce a few meaningful words. ...
متن کاملPathologic Findings of Diagnostic Curettage for Abnormal Uterine Bleeding
ABSTRACT The Purpose of this study was determination of prevalence of various findings in pathologic reports of D&C that were done for abnormal uterine bleeding (AUB) in pre/peri/postmenopausal women. Study population in this discriptive cross-sectional study was all of D&C operations that were done for AUB indication in Alzahra hospital from April 1997 until April 1998. Their pathologic rep...
متن کاملAbnormal Auditory Brainstem Response (ABR) Findings in a Near-Normal Hearing Child with Noonan Syndrome
INTRODUCTION Noonan syndrome (NS) is a heterogeneous genetic disease that affects many parts of the body. It was named after Dr. Jacqueline Anne Noonan, a paediatric cardiologist. CASE REPORT We report audiological tests and auditory brainstem response (ABR) findings in a 5-year old Malay boy with NS. Despite showing the marked signs of NS, the child could only produce a few meaningful words....
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ژورنال
عنوان ژورنال: European Journal of Human Genetics
سال: 2013
ISSN: 1018-4813,1476-5438
DOI: 10.1038/ejhg.2012.285