Results 201 to 210 of about 67,545 (327)

ASPM mutations identified in patients with primary microcephaly and seizures [PDF]

, 2005
Jun Shen
openalex   +1 more source

<i>CDK4</i> loss-of-function mutations cause microcephaly and short stature. [PDF]

Genes Dev
Verdu Schlie A, Leitch A, Arismendi MI, Stok C, Castro Leal A, Parry DA, Marcondes Lerario A, Harley ME, Lucheze B, Carroll PL, Musialik KI, Auer JMT, Martin CA, Gerasimavicius L, Quigley AJ, de Menezes Correia-Deur JE, Marsh JA, Reijns MAM, Lampe AK, Jackson AP, Jorge AAL, Tamayo-Orrego L.   +21 more
europepmc   +1 more source

Cognitive and Adaptive Functioning of CTNNB1 Syndrome Patients: A Comparison With Autism Spectrum Disorder and Cerebral Palsy

Journal of Intellectual Disability Research, EarlyView.
ABSTRACT Background The CTNNB1 syndrome is a neurodevelopmental disorder considered an ultra‐rare disease, first discovered in 2012. Given its comorbidity of symptoms with more prevalent diseases, such as ASD or CP, many CTNNB1 syndrome patients had previously received those diagnosis. Therefore, the aim of this study is to establish differences on the
Mercè Pallarès‐Sastre, Imanol Amayra, Rafael Pulido, Caroline E. Nunes‐Xavier, Sonia Bañuelos, Fabio Cavaliere, Maitane García   +6 more
wiley   +1 more source

Misregulated Chromosome Condensation in MCPH1 Primary Microcephaly is Mediated by Condensin II [PDF]

, 2005
Marc Trimborn, Detlev Schindler, Heidemarie Neitzel, Tatsuya Hirano   +3 more
openalex   +1 more source

A simple and quantitative ultrasonographic screening method for fetal Sylvian fissure abnormalities. [PDF]

Eur J Med Res
Guo C, Sun L, Liu Y, Zhang T, Wang L, Liang Y, Wang J, Wu Q.   +7 more
europepmc   +1 more source

Provider‐Led Interventions to Reduce Congenital Cytomegalovirus

Journal of Midwifery &Women's Health, EarlyView.
Introduction Cytomegalovirus (CMV) infection immediately before or during pregnancy can infect a fetus transplacentally, causing congenital CMV (cCMV). cCMV can cause miscarriage, stillbirth, growth restriction, neurodevelopmental delay, hearing, and vision impairment.
Erin Trisko, Kayla Gosnell, Taneesha Douglas, Katrina Wu   +3 more
wiley   +1 more source

Aortic morphometry and microcephaly in the hypoplastic left heart syndrome Lazaros Kochilas, Jennifer C. Shores, Rita T. Novello, Gil Wernovsky, Robert R. Clancy, J. William Gaynor, Thomas L. Spray, Jack Rychik. Children's Hospital of Philadelphia, Philadelphia, PA

, 2001

openalex   +1 more source

A novel deletion mutation in CENPJ gene in a Pakistani family with autosomal recessive primary microcephaly [PDF]

, 2006
Asma Gul, Muhammad Jawad Hassan, Sabir Hussain, Syed Irfan Raza, Muhammad Salman Chishti, Wasim Ahmad   +5 more
openalex   +1 more source

Detecting microcephaly and macrocephaly from ultrasound images using artificial intelligence. [PDF]

BMC Med Imaging
Mengistu AK, Assaye BT, Flatie AB, Mossie Z.   +3 more
europepmc   +1 more source

Previously described sequence variant in CDK5RAP2gene in a Pakistani family with autosomal recessive primary microcephaly [PDF]

, 2007
Muhammad Jawad Hassan, Maryam Khurshid, Zahid Azeem, Peter John, Ghazanfar Ali, Muhammad Salman Chishti, Wasim Ahmad   +6 more
openalex   +1 more source