Search details
1.
Exome sequencing links the SUMO protease SENP7 with fatal arthrogryposis multiplex congenita, early respiratory failure and neutropenia.
J Med Genet
; 60(11): 1133-1141, 2023 Nov.
Article
in English
| MEDLINE | ID: mdl-37460201
2.
SMARCC1 is a susceptibility gene for congenital hydrocephalus with an autosomal dominant inheritance mode and incomplete penetrance.
Prenat Diagn
; 43(10): 1374-1377, 2023 09.
Article
in English
| MEDLINE | ID: mdl-37639281
3.
Diagnosis of fetal cortical abnormalities by new reference charts for assessment of sylvian fissure biometry.
Prenat Diagn
; 43(8): 1066-1078, 2023 07.
Article
in English
| MEDLINE | ID: mdl-37115172
4.
Two separate functions of NME3 critical for cell survival underlie a neurodegenerative disorder.
Proc Natl Acad Sci U S A
; 116(2): 566-574, 2019 01 08.
Article
in English
| MEDLINE | ID: mdl-30587587
5.
Prenatal and postnatal presentation of PRMT7 related syndrome: Expanding the phenotypic manifestations.
Am J Med Genet A
; 179(1): 78-84, 2019 01.
Article
in English
| MEDLINE | ID: mdl-30513135
6.
LMOD3-Associated Nemaline Myopathy: Prenatal Ultrasonographic, Pathologic, and Molecular Findings.
J Ultrasound Med
; 37(7): 1827-1833, 2018 Jul.
Article
in English
| MEDLINE | ID: mdl-29331079
7.
Unique Imaging Features Enabling the Prenatal Diagnosis of Developmental Venous Anomalies: A Persistent Echogenic Brain Lesion Drained by a Collecting Vein in Contrast with Normal Brain Parenchyma on MRI.
Fetal Diagn Ther
; 43(1): 53-60, 2018.
Article
in English
| MEDLINE | ID: mdl-28624828
8.
Characteristics of orbital lymphoma: a clinicopathological study of 26 cases.
Int Ophthalmol
; 38(1): 271-277, 2018 Feb.
Article
in English
| MEDLINE | ID: mdl-28364339
9.
Familial Brain Periventricular Pseudocysts.
Fetal Diagn Ther
; 42(1): 42-47, 2017.
Article
in English
| MEDLINE | ID: mdl-27710969
10.
Telomere homeostasis in trophoblasts and in cord blood cells from pregnancies complicated with preeclampsia.
Am J Obstet Gynecol
; 214(2): 283.e1-283.e7, 2016 Feb.
Article
in English
| MEDLINE | ID: mdl-26321036
11.
T cell-derived microvesicles induce mast cell production of IL-24: relevance to inflammatory skin diseases.
J Allergy Clin Immunol
; 133(1): 217-24.e1-3, 2014 Jan.
Article
in English
| MEDLINE | ID: mdl-23768573
12.
Waterhouse Friderichsen syndrome complicating fulminant Enterobacter cloacae sepsis in a preterm infant: the unresolved issue of corticosteroids.
Fetal Pediatr Pathol
; 33(2): 104-8, 2014 Apr.
Article
in English
| MEDLINE | ID: mdl-24328998
13.
Does normal fetal brain ultrasound predict normal neurodevelopmental outcome in congenital cytomegalovirus infection?
Prenat Diagn
; 31(4): 360-6, 2011 Apr.
Article
in English
| MEDLINE | ID: mdl-21413035
14.
αvß3 Integrin Expression and Mitogenic Effects by Thyroid Hormones in Chronic Lymphocytic Leukemia.
J Clin Med
; 10(8)2021 Apr 19.
Article
in English
| MEDLINE | ID: mdl-33921634
15.
Short telomeres may play a role in placental dysfunction in preeclampsia and intrauterine growth restriction.
Am J Obstet Gynecol
; 202(4): 381.e1-7, 2010 Apr.
Article
in English
| MEDLINE | ID: mdl-20350645
16.
BRCA1/2 germline mutations in Jewish patients with uterine serous carcinoma.
Int J Gynecol Cancer
; 20(7): 1148-53, 2010 Oct.
Article
in English
| MEDLINE | ID: mdl-21206239
17.
Autosomal dominant TUBB3-related syndrome: Fetal, radiologic, clinical and morphological features.
Eur J Paediatr Neurol
; 26: 46-60, 2020 May.
Article
in English
| MEDLINE | ID: mdl-32169460
18.
Prenatal diagnosis of oral cyst caused by foregut duplication.
Fetal Diagn Ther
; 25(3): 346-8, 2009.
Article
in English
| MEDLINE | ID: mdl-19776600
19.
Monitoring of chemotherapy-induced cell death in melanoma tumors by N,N'-Didansyl-L-cystine.
Technol Cancer Res Treat
; 6(3): 221-34, 2007 Jun.
Article
in English
| MEDLINE | ID: mdl-17535031
20.
Fatal outcome following foetal cerebellar haemorrhage associated with placental thrombosis.
Eur J Paediatr Neurol
; 10(2): 93-6, 2006 Mar.
Article
in English
| MEDLINE | ID: mdl-16567118