Results 91 to 100 of about 2,478 (209)

Multi‐gene panel sequencing in highly consanguineous families and patients with congenital forms of skeletal dysplasias

Clinical Genetics, Volume 106, Issue 1, Page 47-55, July 2024.
NGS‐Multigene panel sequencing with 386 genes known or suspected to cause skeletal dysplasias (SKDs) was employed to investigate SKDs in 7 consanguineous Pakistani families and 27 Indian cases. Various known and novel variants across different genes associated with SKDs were identified. Thus, expanding the allelic spectrum of SKDs.
Naseebullah Kakar, Fazal ur Rehman, Ramandeep Kaur, Gandham SriLakshmi Bhavani, Manisha Goyal, Hitesh Shah, Karandeep Kaur, Kushaljit Singh Sodhi, Christian Kubisch, Guntram Borck, Inusha Panigrahi, Katta Mohan Girisha, Uwe Kornak, Malte Spielmann   +13 more
wiley   +1 more source

Thanatophoric dysplasia Type 1: A rare case of recurrence [PDF]

, 2015
Thanatophoric dysplasia (TD) is the most common form of lethal dysplasias. The prevalence is low 1/20000-1/40000. Newborns with TD died within the neonatal period. Early diagnosis is of prime importance to terminate the pregnancy in time.
Ghanghoriya, Pawan, Ghanghoriya, Vineeta, Pahariya, Richa, Singh, Kavita N   +3 more
core   +1 more source

Prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II and a review of prenatal diagnosis of brain anomalies associated with thanatophoric dysplasia

Taiwanese Journal of Obstetrics & Gynecology, 2018
Objective: We present prenatal diagnosis of hydrancephaly and enlarged cerebellum and cisterna magna in a fetus with thanatophoric dysplasia type II (TD2) and a review of prenatal diagnosis of brain anomalies associated with TD.
Chih-Ping Chen, Tung-Yao Chang, Tan-Wei Lin, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Tzu-Yun Chuang, Wayseen Wang   +7 more
doaj   +1 more source

Whole‐genome sequencing in prenatally detected congenital malformations: prospective cohort study in clinical setting

Ultrasound in Obstetrics &Gynecology, Volume 63, Issue 5, Page 658-663, May 2024.
ABSTRACT Objective To investigate the diagnostic yield of trio whole‐genome sequencing (WGS) in fetuses with various congenital malformations referred to a tertiary center for prenatal diagnosis. Methods In this prospective study, 50 pregnancies with different congenital malformations, negative for trisomies and causative copy‐number variants, were ...
E. Westenius, P. Conner, M. Pettersson, E. Sahlin, N. Papadogiannakis, A. Lindstrand, E. Iwarsson   +6 more
wiley   +1 more source

Perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type 1 in a fetus with a c.2419T>G (p.Ter807Gly) (X807G) mutation in FGFR3

Taiwanese Journal of Obstetrics & Gynecology, 2017
Objective: We present perinatal imaging findings and molecular genetic analysis of thanatophoric dysplasia type I (TD1) in a fetus. Case Report: A 28-year-old woman was referred for genetic counseling at 22 weeks of gestation because of abnormal prenatal
Shin-Wen Chen, Chih-Ping Chen, Liang-Kai Wang, Schu-Rern Chern, Pei-Chen Wu, Yen-Ni Chen, Chen-Ju Lin, Wen-Ling Chen, Wayseen Wang   +8 more
doaj   +1 more source

CATSHL syndrome, a new family and phenotypic expansion

Clinical Genetics, Volume 105, Issue 3, Page 313-316, March 2024.
A novel heterozygous variant of FGFR3 was identified in 2 members of the same family affected by CAmptodactyly – Tall stature – Scoliosis – Hearing Loss (CATSHL) syndrome with some shared features with Lacrimo – Auricolo – Dento – Digital (LADD) syndrome. LADD and CATSHL syndromes could be further evidences of high pleiotropy of FGFR3.
Silvia Cannova, Camilla Meossi, Federico Grilli, Donatella Milani, Federica Alberti, Claudia Cesaretti, Paola Giovanna Marchisio, Francesca Crosti, Lidia Pezzani   +8 more
wiley   +1 more source

Hypochondroplasia, Acanthosis Nigricans, and Insulin Resistance in a Child with FGFR3 Mutation: Is It Just an Association? [PDF]

, 2014
FGFR3 mutations cause wide spectrum of disorders ranging from skeletal dysplasias (hypochondroplasia, achondroplasia, and thanatophoric dysplasia), benign skin tumors (epidermal nevi, seborrhaeic keratosis, and acanthosis nigricans), and epithelial ...
Bassam Bin-Abbas, Manal Mustafa, Nabil Moghrabi   +2 more
core   +3 more sources

Growth reference charts for children with hypochondroplasia

American Journal of Medical Genetics Part A, Volume 194, Issue 2, Page 243-252, February 2024.
Abstract Hypochondroplasia (HCH) is a rare skeletal dysplasia causing mild short stature. There is a paucity of growth reference charts for this population. Anthropometric data were collected to generate height, weight, and head circumference (HC) growth reference charts for children with a diagnosis of HCH.
Moira S. Cheung, Tim J. Cole, Paul Arundel, Nicola Bridges, Christine P. Burren, Trevor Cole, Justin Huw Davies, Lars Hagenäs, Wolfgang Högler, Anthony Hulse, Avril Mason, Ciara McDonnell, Andrea Merker, Klaus Mohnike, Ataf Sabir, Mars Skae, Anya Rothenbuhler, Justin Warner, Melita Irving   +18 more
wiley   +1 more source

Displasia tanatofórica: Reporte de un caso y revisión Thanatophoric Dysplasia: A case report and review

Revista Colombiana de Obstetricia y Ginecología, 2008
Objetivo: presentar los hallazgos ecográficos de la displasia tanatofórica (DT) y su diagnóstico diferencial, desde el punto de vista del ultrasonido con la acondroplasia.
Alejandro Giraldo-Cuartas
doaj  

Fibroblast Growth Factor Receptor 3 (FGFR3)–Analyses of the S249C Mutation and Protein Expression in Primary Cervical Carcinomas

Analytical Cellular Pathology, 2001
Fibroblast growth factor receptor 3 (FGFR3) seems to play an inhibitory role in bone development, as activating mutations in the gene underlie disorders such as achondroplasia and thanatophoric dysplasia. Findings from multiple myeloma (MM) indicate that
Haiyan Dai, Ruth Holm, Gunnar B. Kristensen, Vera M. Abeler, Anne‐Lise Børresen‐Dale, Åslaug Helland   +5 more
doaj   +1 more source