Results 61 to 70 of about 2,513 (173)

CRISPR‐Cas9‐Generated TXNDC15 c.560delA Homozygous Mouse Model Exhibits Meckel–Gruber Syndrome Phenotype

genesis, Volume 64, Issue 1, February 2026.
ABSTRACT To determine whether TXNDC15 variation causes Meckel–Gruber syndrome (MKS), we assessed the pathogenicity of the frameshift variant c.560delA. A CRISPR–Cas9 generated mouse model carrying the equivalent Txndc15 c.512delA mutation was analyzed at embryonic day 15.5.
Yang Liu, Hui Wang, Liyuan Chen, Xiaoxia Wu, Zhiyong Xu, Qingfa Huang, Hu Zhang, Xiushu Cao, Xinyuan Liang, Xingjian Zhong, Caiqun Luo   +10 more
wiley   +1 more source

Prenatal Diagnosis to Postnatal Outcomes of Saccular Forms of Closed Spina Dysraphism: A Single Center Retrospective Study

Prenatal Diagnosis, Volume 46, Issue 2, Page 219-228, February 2026.
ABSTRACT Objective To describe prenatal imaging findings and postnatal outcomes in fetuses diagnosed with saccular forms of closed spinal dysraphism (CSD). Methods This retrospective single‐centre study included fetuses diagnosed with non‐genetic, non‐syndromic CSD between January 2018 and June 2023.
Yada Kunpalin, Jennifer Quon, Abby Varghese, Michael Chua, Samer Maher, Abhaya V. Kulkarni, Tim Van Mieghem, Shiri Shinar, Elka Miller   +8 more
wiley   +1 more source

A New Case of PITX1-Related Mandibular–Pelvic–Patellar (MPP) Syndrome

Clinics and Practice
Background: The PITX1 gene encodes a transcription factor that plays a crucial role in the development of the lower limbs, pelvis, and structures derived from the first branchial arch.
Evgeniya Melnik, Ekaterina Petrova, Tatiana Markova, Ksenya Zabudskaya, Elena Dadali   +4 more
doaj   +1 more source

Ring Chromosome 4 in a Child with Multiple Congenital Abnormalities: A Case Report and Review of the Literature

Case Reports in Genetics, 2016
A female child born preterm with intrauterine growth retardation and presenting with facial dysmorphism with clefts, microcephaly, limb deformities, and congenital abnormalities involving cardiovascular and urinary systems is described.
C. S. Paththinige, N. D. Sirisena, U. G. I. U. Kariyawasam, L. P. C. Saman Kumara, V. H. W. Dissanayake   +4 more
doaj   +1 more source

Prenatal olanzapine exposure and congenital talipes equinovarus (clubfoot): a case report and review of emerging evidence

Mental Wellness
Recently, concerns have emerged about the potential teratogenic effects of olanzapine, particularly its association with congenital malformations such as congenital talipes equinovarus (clubfoot). Evidence from a large Finnish study, which reported a 2.5-
Mohsen Khosravi
doaj   +1 more source

Congenital talipes equinovarus (clubfoot) [PDF]

American Journal of Obstetrics and Gynecology, 2019
Jennifer, McKinney, Martha W F, Rac, Manisha, Gandhi   +2 more
openaire   +2 more sources

ISOLATED CONGENITAL GENU RECURVATUM A CASE SERIES

Journal of the Bulgarian Orthopaedics and Trauma Association
Congenital Genu Recurvatum (CGR) is a rare anomaly which can be diagnosed prenatally via imaging or following birth by a physical examination. With an incidence of 1 in 100,000 live births, CGR is defined as a pathological degree of hyperextension of ...
Godwin Joy
doaj   +3 more sources

A Rare Presentation of Bifid Tibialis Anterior Tendon in a Case of Idiopathic Congenital Talipes Equinovarus. [PDF]

J Orthop Case Rep, 2023
Gupta R, Sheth B, Pawar P, Kalra N, Somani V.   +4 more
europepmc   +1 more source

Factors Related to Relapse of Congenital Talipes Equinovarus (CTEV) After the Ponseti Method. [PDF]

Cureus, 2023
Mohsenh WA, Alqarni MM, Alshehri AK, Asiri AM, Mohsenh OH, Mahmood SE, Alhifzi AI, Mohsenh RH, Al Zomia AS.   +8 more
europepmc   +1 more source

Biomechanical Parameters in Children with Unilateral and Bilateral Clubfoot during Vertical Jumps

Motriz: Revista de Educacao Fisica
Gait analysis may offer information to choose the best exercise-based clinical intervention for the children with clubfoot. However, other motor abilities are not commonly investigated.
Renato José Soares, Alex Sandra O Cerqueira, Luis Mochizuki, Julio Serrão, João P Vilas-Boas, Alberto C. Amadio   +5 more
doaj   +1 more source