Results 31 to 40 of about 78,021 (259)

Genetics of non syndromic hearing loss [PDF]

Medical Journal Armed Forces India, 2015
Non Syndromic Hearing Loss is an important cause for hearing loss. One in 1000 newborns have some hearing impairment. Over 400 genetic syndromes have been described. Non Syndromic Hearing Loss (NSHL) can be inherited in an Autosomal Dominant, Autosomal Recessive or a Sex Linked fashion.
M D, Venkatesh, Nikhil, Moorchung, Bipin, Puri   +2 more
openaire   +2 more sources

Cognitive functioning and clinical characteristics of children with non-syndromic orofacial clefts: A case-control study

Frontiers in Psychology, 2023
IntroductionThe higher rate of neuropsychiatric disorders in individuals with non-syndromic orofacial clefts has been well documented by previous studies. Our goal was to identify children with non-syndromic orofacial clefts that are at risk for abnormal
Kinga Amália Sándor-Bajusz, Tímea Dergez, Edit Molnár, Kinga Hadzsiev, Ágnes Till, Anna Zsigmond, Attila Vástyán, Györgyi Csábi   +7 more
doaj   +1 more source

Rare non‐syndromic bilateral maxillary and mandibular permanent canine agenesis

Clinical Case Reports, 2022
Oligodontia or absence of teeth such as the Canines is rare and is often accompanied with several other missing teeth. This condition may also be accompanied with morphological and growth related changes in the teeth and the maxillofacial complex ...
Anand Marya, Mohmed Isaqali Karobari, Artak Heboyan   +2 more
doaj   +1 more source

Non syndromic supernumerary teeth: management of two clinical cases

The Pan African Medical Journal, 2018
Supernumerary teeth are extra teeth or tooth-like structures. Single, double, or multiple teeth that occur in one or both jaws may be erupted or unerupted and unilateral or bilateral. Supernumeraries are less common in primary dentition than in permanent
Akram Belmehdi, Soukayna Bahbah, Karima El Harti, Wafaa El Wady   +3 more
doaj   +1 more source

Non Syndromic Familial Bilateral Decidious Taurodontism – A First Case Report [PDF]

Journal of Clinical and Diagnostic Research, 2014
Taurodontism is anatomical and morphological alteration in the shape of the tooth. In taurodontism the crowns appear larger and the roots shorter compared to the normal anatomy of the respective tooth.
ANTARMAYEE PANIGRAHI, RAJAT G. PANIGRAHI, SRILATHA K. T., RUCHI BHUYAN, SANAT K. BHUYAN   +4 more
doaj   +1 more source

Non-syndromic monogenic female infertility.

Acta bio-medica : Atenei Parmensis, 2019
Infertility is a significant clinical problem. It affects 8-12% of couples worldwide, about 30% of whom are diagnosed with idiopathic infertility (infertility lacking any obvious cause). In 2010, the World Health Organization calculated that 1.9% of child-seeking women aged 20-44 years were unable to have a first live birth (primary infertility), and ...
Guerri G., Maniscalchi T., Barati S., Gerli S., Di Renzo G. C., Morte C. D., Marceddu G., Casadei A., Lagana A. S., Sturla D., Ghezzi F., Garzon S., Unfer V., Bertelli M., Paolacci S.   +14 more
openaire   +6 more sources

RETRACTED: Functional Study of Ectodysplasin-A Mutations Causing Non-Syndromic Tooth Agenesis.

PLoS ONE, 2016
Recent studies have demonstrated that ectodysplasin-A (EDA) mutations are associated with non-syndromic tooth agenesis. Indeed, we were the first to report three novel EDA mutations (A259E, R289C and R334H) in sporadic non-syndromic tooth agenesis.
Wenjing Shen, Yue Wang, Yang Liu, Haochen Liu, Hongshan Zhao, Guozhong Zhang, Malcolm L Snead, Dong Han, Hailan Feng   +8 more
doaj   +1 more source

Genetic Variants in miRNAs Are Associated With Risk of Non-syndromic Tooth Agenesis

Frontiers in Physiology, 2020
Non-syndromic tooth agenesis (NSTA) is one of the most common dental abnormalities. MiRNAs participated in the craniofacial and tooth development. Therefore, single nucleotide polymorphisms (SNPs) in miRNA genes may contribute to the susceptibility of ...
Min Gu, Min Gu, Min Gu, Xin Yu, Xin Yu, Liwen Fan, Liwen Fan, Guirong Zhu, Guirong Zhu, Fan Yang, Fan Yang, Shu Lou, Shu Lou, Lan Ma, Yongchu Pan, Yongchu Pan, Yongchu Pan, Lin Wang, Lin Wang, Lin Wang   +19 more
doaj   +1 more source

Association of CDH11 with non‐syndromic ASD [PDF]

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, 2014
We report a sporadic patient with Autism Spectrum Disorder (ASD), mild intellectual disability and attention deficit hyperactivity disorder (ADHD) with a de novo partial deletion of CADHERIN 11 (CDH11). The deletion is associated with one of the breakpoints of a de novo complex chromosomal rearrangement 46,XY,t(3;16;5)(q29;q22;q15)inv4(p14;q21)ins(4;5)(
An, Crepel, Veerle, De Wolf, Nathalie, Brison, Berten, Ceulemans, Didier, Walleghem, Gilian, Peuteman, Diether, Lambrechts, Jean, Steyaert, Ilse, Noens, Koen, Devriendt, Hilde, Peeters   +10 more
openaire   +3 more sources

European Standard Clinical Practice Guideline and EXPeRT Recommendations for the Diagnosis and Management of Gastroenteropancreatic Neuroendocrine Neoplasms in Children and Adolescents

Pediatric Blood &Cancer, EarlyView.
ABSTRACT Pediatric gastroenteropancreatic neuroendocrine neoplasms (GEP‐NENs) are extremely rare and clinically heterogeneous. Management has largely been extrapolated from adult practice. This European Standard Clinical Practice Guideline (ESCP), developed by the EXPeRT network in collaboration with adult NEN experts, provides (adult) evidence ...
Michaela Kuhlen, Calogero Virgone, Antje Redlich, Michael Abele, Ricardo Lopez‐Almaraz, Tal Ben‐Ami, Ewa Bien, Gianni Bisogno, Maja Mazic Cesen, Andrea Ferrari, Malgorzata A. Krawczyk, Yves Reguerre, Dominik T. Schneider, Ines B. Brecht, Charlotte Rigaud, Bilgehan Yalcin, Rainer Claus, Christian Vokuhl, Constantin Lapa, Jörg Fuchs, Segolene Hescot, Thomas Walter, Julien Hadoux, Daniel Orbach   +23 more
wiley   +1 more source