Results 121 to 130 of about 38,591 (268)

Review and perspective of molecular genetics and molecular diagnosis in neurogenetic disorders

Chinese Journal of Contemporary Neurology and Neurosurgery, 2012
DOI：10.3969/j.issn.1672⁃6731.2012.03 ...
Bei⁃sha TANG
doaj  

Growth Hormone Treatment in Patients With KBG Syndrome: Novel Insights, Challenges and Recommendations From Six New Patients and Literature Review

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT KBG syndrome is one of the most frequent neurodevelopmental disorders and is caused by ANKRD11 variants. Postnatal short stature is observed in ~50% of patients. Recombinant human growth hormone (rhGH) has become a valuable treatment for patients with growth hormone deficiency (GHD) along with Prader–Willi and Turner syndrome. Limited evidence
Sietse M. Aukema, Kim Vandenput, Emanuela Scarano, Himanshu Goel, Lily Guo, Michiel Vanneste, Koen Devriendt, Nitash Zwaveling‐Soonawala, Cordula Kiewert, Alma Kuechler, Ilaria Parenti, Eleonora Orlandini, Elke de Boer, Siddharth Banka, Elizabeth Wall, Gholson J. Lyon, Karen J. Low, Joyce M. Geelen, Yvonne G. van der Zwan, Charlotte W. Ockeloen   +19 more
wiley   +1 more source

A Multidisciplinary Approach to a Seven Year-Old Patient with Incontinentia Pigmenti: A Case Report and Five-Year Follow Up

Frontiers in Dentistry, 2016
Incontinentia pigmenti is a rare inherited disorder involving abnormalities of the skin, hair, eyes, musculoskeletal system, central nervous system, and the teeth. Dental abnormalities are the most common manifestations of this disorder.
Rezvan Rafatjou, Fariborz Vafaee, Hanif Allahbakhshi, Porousha Mahjoub   +3 more
doaj  

Further Evidence That Chondrocalcinosis 1 (CCAL1) is a Confirmed Mendelian Phenotype With a Known Molecular Basis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Chondrocalcinosis (CCAL), also known as calcium pyrophosphate dihydrate deposition disease (CPPDD), is a frequent multifactorial condition in the elderly, but there are two rare autosomal dominant Mendelian forms, CCAL1 (OMIM %600668) and CCAL2. Only three families with molecularly proven CCAL1 have been reported.
Anna‐Christina Pansa, Mareike Selig, Markus Wingendorf, Matthew A. Brown, Oliver Bartsch   +4 more
wiley   +1 more source

Genetic-Metabolic News [PDF]

, 1973
This is the first in a series of newsletters designed to inform the Virginia medical community of recent advances in the area of genetics and metabolism and to provide information regarding a variety of services that are available at the Medical College ...

core   +1 more source

Finding a consensus between philosophy of applied and social sciences: A case of biology of human rights [PDF]

, 2020
This paper is an attempt to provide an adequate theoretical framework to understand the biological basis of human rights. We argue that the skepticism about human rights is increasing especially among the most rational, innovative and productive ...
Younas, Ammar
core  

Identification and Characterization of a Novel Biallelic SLC12A2 Variant Associated With Kilquist Syndrome (OMIM #619080)

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT This study presents the case of a child with multiple congenital anomalies, severe hypotonia, and profound bilateral sensorineural hearing loss. Functional bioenergetic assessments showed no significant mitochondrial respiratory defects, and riboflavin (Rf) status evaluation excluded a deficiency in Rf transporters as a cause of hearing loss ...
Piero Leone, Alessia Nisco, Luciana de Gennaro, Maria Tolomeo, Elisa Lorefice, Giuseppe Petrosillo, Silvia Russo, Donatella De Giovanni, Claudia Rita Catacchio, Francesca Romana Lepri, Mario Ventura, Simonetta Simonetti, Albina Tummolo, Maria Barile   +13 more
wiley   +1 more source

Knowledge and attitudes about rare genetic diseases among practitioners of oral medicine/pathology in Brazil: a cross-sectional study

Frontiers in Oral Health
IntroductionThis study aimed to analyze the knowledge and attitudes of Brazilian Oral Medicine and Pathology (OM/OP) specialists about genetic diseases.MethodsA cross-sectional and descriptive study was conducted with Brazilian OM/OP specialists, using a
Samuel Trezena, Samuel Trezena, Daniella Reis Barbosa Martelli, Paulo Rogério Ferreti Bonan, Edgard Graner, Lívia Maria Ferreira Sobrinho, Faizan Alawi, Ricardo D. Coletta, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior, Hercílio Martelli-Júnior   +10 more
doaj   +1 more source

Genotype–Phenotype Correlation in TTC7A‐Associated Gastrointestinal Defects and Immunodeficiency Syndrome 1

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Gastrointestinal defects and immunodeficiency syndrome 1 (GIDID1) is a rare autosomal recessive disorder caused by biallelic variants in TTC7A. GIDID1 is characterized by a broad clinical spectrum ranging from very early‐onset inflammatory bowel disease (VEOIBD) to multiple intestinal atresia (MIA) with or without immunological manifestations.
Julia Imhoff, Hans Christian Schmidt, Matthias Hans Belau, Johanna Hagens, Mario Lange, Daniel Tegtmeyer, Konrad Reinshagen, Frederike Leonie Harms, Christian Tomuschat   +8 more
wiley   +1 more source

Characteristics of motor function in children with hereditary neuromuscular disease

Chinese Journal of Contemporary Neurology and Neurosurgery
Objective To analyze the characteristics of motor function in children with different types of hereditary neuromuscular disease (HNMD). Methods A total of 61 children with HNMD admitted to Peking University First Hospital from January 2018 to January ...
LI Wen-zhu, HUANG Zhen, FAN Yan-bin, XIONG Hui   +3 more
doaj   +1 more source