Results 121 to 130 of about 33,507 (210)

Cross Sectional Study of Prenatal Diagnosis Uptake Among Individuals With Genetic Conditions

Prenatal Diagnosis, Volume 46, Issue 9, Page 1374-1384, August 2026.
ABSTRACT Objective Prenatal diagnostic genetic testing allows for early identification of significant fetal conditions and enables informed decision‐making regarding management options. The aim of this study was to assess prenatal testing practice among individuals with genetic conditions.
Ebunoluwa Ojo, Roni Zemet, Allyson Nevins, Katherine Abraham, April D. Adams   +4 more
wiley   +1 more source

No increased risk of spinal cerebrospinal fluid leak after spinal manipulative therapy: A retrospective cohort study

PM&R, Volume 18, Issue 8, Page 874-884, August 2026.
Abstract Background Spinal cerebrospinal fluid (CSF) leaks, a rare but debilitating condition, have been described following spinal manipulative therapy (SMT) in case reports. However, the nature of the potential association between SMT and CSF leak is uncertain, and symptoms such as neck pain or headache may reflect preexisting leaks rather than ...
Robert J. Trager, Collin M. Labak, Anthony N. Baumann, Tyler H. Snodgrass, Zachary A. Cupler   +4 more
wiley   +1 more source

Deep‐Intronic Variant in RUNX2 Causing Pseudo‐Exon Inclusion in a Family With Cleidocranial Dysplasia

Clinical Genetics, Volume 110, Issue 2, Page 268-269, August 2026.
A deep‐intronic single nucleotide variant in RUNX2 causes the characteristic clinical features of cleidocranial dysplasia (CCD) in a family via pseudo‐exon inclusion into the mRNA. The pseudo‐exon contains a premature stop codon and triggers mRNA decay, which results in RUNX2 haploinsufficiency, the known disease mechanism.
Dorothea Stojanovic, Dorota Garczarczyk‐Asim, Julia Vodopiutz, Andreas R. Janecke   +3 more
wiley   +1 more source

Neurofibromatosis Type-1 and Hypothyroidism [PDF]

The Indian Journal of Pediatrics, 2020
Prateek Kumar, Panda, Indar Kumar, Sharawat   +1 more
openaire   +2 more sources

Neurofibromatosis type 1 with unusual oral manifestations

Journal of Indian Academy of Oral Medicine and Radiology, 2012
Neurofibromatosis (NF) is a genetically transmitted autosomal dominant disorder with variable penetrance and about 50% of cases representing new mutations.
Raghavendra Kini, Vathsala Naik, Ashwini Baliga, Anjali P Shetty, Y R Girish   +4 more
doaj  

Ultrasonography for Surgical Planning and Follow-Up in Neurofibromatosis Type 1. [PDF]

Diagnostics (Basel)
Shen PY, Ho CJ, Wu WT, Chang KV, Özçakar L.   +4 more
europepmc   +1 more source

Inflammatory Colonic Polyp as a Manifestation of Neurofibromatosis Type 1. [PDF]

Dtsch Arztebl Int
Sasse A, Ströbel P, Ammer-Herrmenau C.
europepmc   +1 more source

Ganglioneuroblastoma associated with neurofibromatosis type 1: a case report with a systematic review. [PDF]

Front Oncol
Zhang Q, Su S, Geng G, Bai Y, Hu W, Zhang W, Zhang H, Wang G.   +7 more
europepmc   +1 more source

Assessment and Treatment of Cutaneous Neurofibromas in Neurofibromatosis Type 1: A Scoping Review. [PDF]

Neurol Genet
Elahmar HA, Soto Rincon CA, Drucker A, Parkin P, Barnett-Tapia C.   +4 more
europepmc   +1 more source

Case Report: Primary sciatic leiomyosarcoma in a patient with neurofibromatosis type 1. [PDF]

Front Oncol
Chen L, Xu M, Cheng K, Cui L, Mou X, Li C.   +5 more
europepmc   +1 more source