Results 61 to 70 of about 848 (140)

Prenatal diagnosis of boomerang dysplasia

, 2003
Boomerang dysplasia, atelosteogenesis type 1 and Piepkorn dysplasia are bone dysplasias with an overlapping clinical spectrum characterized by deficient formation and ossification of specific elements of the skeleton.
Ronald R. De Krijger, Willems, P.J., Patrick J. Willems, Peter G. Nikkels, Nikkels, P.G., Luisa Bonifé, Wessels, M.W., Den Hollander, N.S., Marja W. Wessels, Bonafé, L., De Krijger, R.R., Andrea Superti‐Furga, Nicolette S. Den Hollander, Superti-Furga, A.   +13 more
core   +1 more source

High positive predictive value 22q11.2 microdeletion screening by prenatal cell‐free DNA testing that incorporates fetal fraction amplification

Prenatal Diagnosis, Volume 44, Issue 8, Page 925-935, July 2024.
Abstract Objective 22q11.2 deletion syndrome (DS) is a serious condition with a range of features. The small microdeletion causing 22q11.2DS makes it technically challenging to detect using standard prenatal cfDNA screening. Here, we assess 22q11.2 microdeletion clinical performance by a prenatal cfDNA screen that incorporates fetal fraction (FF ...
Carly Hammer, Summer Pierson, Ashley Acevedo, James Goldberg, Thomas Westover, Devika Chawla, Brent Mabey, Dale Muzzey, Katherine Johansen Taber   +8 more
wiley   +1 more source

Short rib-polydactyly syndrome type II (Majewski): Prenatal diagnosis, perinatal imaging findings and molecular analysis of the NEK1 gene

Taiwanese Journal of Obstetrics & Gynecology, 2012
Objective: To demonstrate perinatal imaging findings and to investigate the mutation in the NEK1 gene in a fetus with type II short rib-polydactyly syndrome (SRPS) (Majewski).
Chih-Ping Chen, Tung-Yao Chang, Chen-Yu Chen, Tao-Yeuan Wang, Fuu-Jen Tsai, Pei-Chen Wu, Schu-Rern Chern, Wayseen Wang   +7 more
doaj   +1 more source

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

Novel phenotype associated with homozygous likely pathogenic variant in the POP1 gene

Clinical Genetics, Volume 105, Issue 6, Page 671-675, June 2024.
Identifying a novel POP1 homozygous variant in three cases within a family reveals a distinct phenotype of severe neurodevelopmental disorder with congenital anomalies. This discovery expands the phenotypic spectrum of POP1‐related disorders. Abstract The biallelic variants of the POP1 gene are associated with the anauxetic dysplasia (AAD OMIM 607095),
Marina Michelson, Keren Yosovich, Sarit Bahar, Yuval Yogev, Ohad S. Birk, Mira Ginzberg, Dorit Lev   +6 more
wiley   +1 more source

Rapid detection of K650E mutation in FGFR3 using uncultured amniocytes in a pregnancy affected with fetal cloverleaf skull, occipital pseudoencephalocele, ventriculomegaly, straight short femurs, and thanatophoric dysplasia type II

Taiwanese Journal of Obstetrics & Gynecology, 2013
Objective: To present the ultrasound and molecular genetic diagnosis of thanatophoric dysplasia type II (TD2). Case Report: A 35-year-old, primigravid woman was referred to our institution for genetic counseling and amniocentesis at 19 weeks of gestation
Chih-Ping Chen, Tung-Yao Chang, Ming-Huei Lin, Schu-Rern Chern, Jun-Wei Su, Wayseen Wang   +5 more
doaj   +1 more source

Pallister–Killian syndrome: Cytogenetics and molecular investigations of mosaic tetrasomy 12p in prenatal chorionic villus and in amniocytes. Strategy of prenatal diagnosis

Taiwanese Journal of Obstetrics & Gynecology, 2016
Objective: Pallister–Killian syndrome (PKS) is a rare, sporadic genetic disorder caused by mosaic tetrasomy of the short arm of chromosome 12 (12p).
Francesco Libotte, Domenico Bizzoco, Ivan Gabrielli, Alvaro Mesoraca, Pietro Cignini, Salvatore Giovanni Vitale, Ilaria Marilli, Ferdinando Antonio Gulino, Agnese Maria Chiara Rapisarda, Claudio Giorlandino   +9 more
doaj   +1 more source

ROLE OF VARIOUS SPECIES OF MYCOPLASMA AND BACTERIA IN TURKEY'S SINUSITIS WITH DESCRIPTION OF PATHOLOGICAL PICTURE

Assiut Veterinary Medical Journal, 2009
  The current work was carried out to clear-up the probable causes responsible for signs of infraorbital sinusitis with embryonic deaths of the fertile eggs in a multiple-age turkey's farm located in El-Minia Governorate, Upper Egypt.
FADIA ABDELHAMEED, DINA Y.H. EL-SHAFEY, NAGAH S. ABD-EL-DAYEM, LAILA A. TANTAWI   +3 more
doaj   +1 more source

The current role of imaging in the prenatal diagnosis of fetal achon-droplasia medical management and dental implications [PDF]

, 2017
We present the case of a patient with the following diagnosis: 29 weeks pregnancy in evolution, fetal achondroplasia with orofacial manifestations: macrocephaly, domed forehead, depressed nasal bridge, maxillary hypoplasia and general manifestations ...
Albu, Cristina-Crenguta, Ion, George, Albu, Dinu-Florin   +2 more
core   +1 more source

Detailed ultrasonographic findings in Greenberg dysplasia

, 2001
A case of Greenberg dysplasia [hydrops fetalis. ectopic calcifications, 'moth-eaten' skeletal dysplasia (HEM)] is presented. Fetal ultrasonography at 20 weeks' gestation showed hydrops fetalis, severe micromelia, irregular hyperechogenic foci in the ribs
Madazli, R, Ocak, V, Aksoy, F, Atasu, T
core   +1 more source