[HTML][HTML] Neurocristopathies: New insights 150 years after the neural crest discovery

GA Vega-Lopez, S Cerrizuela, C Tribulo… - Developmental biology, 2018 - Elsevier
The neural crest (NC) is a transient, multipotent and migratory cell population that generates
an astonishingly diverse array of cell types during vertebrate development. These cells …

Role of late amniocentesis in the era of modern genomic technologies

H Daum, A Ben David, M Nadjari… - … in obstetrics & …, 2019 - Wiley Online Library
Objective Traditionally, amniocentesis is performed between 17 and 23 weeks of gestation.
This enables decisions regarding the course of pregnancy to be made before viability. Less …

Prenatal diagnosis of congenital upper limb differences: a current concept review

HM Alrabai, A Farr, D Bettelheim… - The Journal of Maternal …, 2017 - Taylor & Francis
Congenital upper limb differences are frequently associated with complex syndromes.
Ultrasonography is considered as the first-line diagnostic modality, and fetal MRI can be …

A genotype–phenotype correlation in split-hand/foot malformation type 1: further refinement of the phenotypic subregions within the 7q21. 3 locus

A Sowińska-Seidler, M Socha… - Frontiers in Molecular …, 2023 - frontiersin.org
Background: Split-hand/foot malformation type 1 (SHFM1) refers to the group of rare
congenital limb disorders defined by the absence or hypoplasia of the central rays of the …

Gene expression patterns associated with caudal fin shape in the cichlid Lamprologus tigripictilis

EP Ahi, F Richter, KM Sefc - Hydrobiologia, 2023 - Springer
Variation in fin shape is one of the most prominent features of morphological diversity
among fish. Regulation of fin growth has mainly been studied in zebrafish, and it is not clear …

Deletion 7q21. 2-q22. 1 in a case with split hand-split foot malformation, sensorineural hearing loss and intellectual disability: phenotype subtypes and the correlation …

A Rai, P Srivastava, SR Phadke - European Journal of Medical Genetics, 2019 - Elsevier
The split hand/split foot malformation (SHFM) or ectrodactyly is a rare congenital
heterogeneous limb developmental disorder with at least 6 associated loci. It is …

Microduplications of 10q24 detected in two Chinese patients with split-hand/foot malformation Type 3

R Xiang, R Du, S Guo, J Jin, L Fan… - Annals of Clinical & …, 2017 - Assoc Clin Scientists
Split hand/foot malformation (SHFM) is a congenital heterogeneous disorder with prominent
limb deficiency. Seven loci have been identified to associate with SHFM, including SHFM1 …

Osteogenesis Imperfecta and Split Foot Malformation due to 7q21. 2q21. 3 Deletion Including COL1A2, DLX5/6 Genes: Review of the Literature

Ö Öztürk, H Bagis, S Bolu - Journal of Pediatric Genetics, 2024 - thieme-connect.com
Copy number variation in loss of 7q21 is a genetic disorder characterized by split hand/foot
malformation, hearing loss, developmental delay, myoclonus, dystonia, joint laxity, and …

Gene expression patterns associated with fin shape differ between two lamprologine cichlids

EP Ahi, F Richter, KM Sefc - bioRxiv, 2022 - biorxiv.org
Comparing gene regulatory patterns between seemingly similar phenotypic traits can
provide important insights on the molecular mechanisms underlying the evolution of those …

Split hand/foot malformation associated with 20p12. 1 deletion: A case report

L Ruaud, R Flöttmann, M Spielmann, F Escande… - European Journal of …, 2020 - Elsevier
Split hand/foot malformation (SHFM) or ectrodactyly is a rare congenital disorder affecting
limb development characterized by clinical and genetic heterogeneity. SHFM is usually …