Results 51 to 60 of about 53,134 (267)

Combined Long‐Read Genome and Transcriptome Sequencing Establishes Novel Variants in MEGF8 as the Cause for Carpenter Syndrome Type 2

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Carpenter syndrome type 2 (CRPT2) is a rare autosomal recessive disease mainly characterized by craniosynostosis and polysyndactyly. CRPT2 is the rarer subtype of Carpenter syndrome (CRPTS) and is caused by biallelic variants in the multiple epidermal growth factor‐like domains 8 gene (MEGF8).
Kiana Rashidi, Bhavi P. Modi, Phillip A. Richmond, Massimo Mangino, Loryn Byres, Cassie McDonald, Joshua Dalmann, Simran Samra, Kate L. Del Bel, Anna Lehman, Jessica L. Zambonin, Stuart E. Turvey   +11 more
wiley   +1 more source

Phenotype Expansion of Malan Syndrome: New Cases and a Review of the Literature

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Malan syndrome is an ultra‐rare overgrowth syndrome caused by pathogenic variants or deletions in nuclear factor one X (NFIX) located at 19p13.2. Here, we report a comprehensive literature review and phenotyping of known patients with Malan syndrome and present a novel cohort of eight patients.
Alex F. Nisbet, Sylvie A. Adams, Zoe S. Katz, Christal G. Delagrammatikas, Kosuke Izumi, Winifred Sigal, Kim Ventarola, Elaine H. Zackai, Julia E. Reid, Grant T. Liu, Jennifer M. Kalish   +10 more
wiley   +1 more source

Polycythemia with elevated erythropoietin production in a patient with a urinary stone and unilateral hydronephrosis: a case report

Journal of Medical Case Reports, 2023
Background Absolute polycythemia can be primary or secondary. Erythropoietin-producing diseases (for example, hypoxia) are the major cause of secondary polycythemia. There are reports of polycythemia secondary to hydronephrosis. However, to our knowledge,
Yuriko Hajika, Yuji Kawaguchi, Kenji Hamazaki, Yasuro Kumeda   +3 more
doaj   +1 more source

Laparoscopic transposition of lower pole crossing vessels (vascular hitch) in children with pelviureteric junction obstruction [PDF]

, 2016
BACKGROUND: Congenital hydronephrosis due to intrinsic or extrinsic uretero-pelvic-junction (UPJ) obstruction (UPJO) is a common problem in childhood UPJO may be caused by intrinsic disorganization or by extrinsic compression from crossing vessels (CV);
Bleve, Cosimo, Caione, Paolo, Caprio, Maria Grazia, Cerulo, Mariapina, Chiarenza, Salvatore Fabio, ESCOLINO, MARIA, ESPOSITO, CIRO, FARINA, ALESSANDRA, Manna, Angela La, Nappo, Simona Gerocarni   +9 more
core   +1 more source

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

Shear wave velocity measurements using acoustic radiation force impulse in young children with normal kidneys versus hydronephrotic kidneys [PDF]

Ultrasonography, 2014
Purpose: To measure shear wave velocities (SWVs) by acoustic radiation force impulse (ARFI) ultrasound elastography in normal kidneys and in hydronephrotic kidneys in young children and to compare SWVs between the hydronephrosis grades.
Beomseok Sohn, Myung-Joon Kim, Sang Won Han, Young Jae Im, Mi-Jung Lee   +4 more
doaj   +1 more source

Hydronephrosis Index as a New Method for the Evaluation and Follow-up of Fetal Hydronephrosis [PDF]

Iranian Journal of Neonatology, 2020
Background: The present study was conducted to compare the efficiency of hydronephrosis index (HI) with those of pelvic anteroposterior (AP) diameter and parenchymal thickness in the diagnosis of fetal hydronephrosis in the prenatal period, as well as 1,
Farideh Gharekhanloo
doaj   +1 more source

The menstruating bladder, an unusual cause of haematuria [PDF]

, 2012
A 39 year old lady presented with flank pain and haematuria. Radiological investigations showed unilateral hydronephrosis and a serum creatinine of 102?mol/l.
Busuttil, Gerald, DeGaetano, James, German, Karl Andrew, Scerri, Albert P.   +3 more
core  

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Complicação urológica após enxerto aorto-ilíaco: relato de caso e revisão de literatura [PDF]

, 2010
CONTEXT: Ureteral stenosis and ureterohydronephrosis may be serious complications of aortoiliac or aortofemoral reconstructive surgery. CASE REPORT: A 62-year-old female patient presented with a six-month history of left lumbar pain.
BORGES, Leonardo Lima, EBAID, Gustavo Xavier, LUCON, Antônio Marmo, Srougi, Miguel, TORRICELLI, Fábio César Miranda   +4 more
core   +1 more source