1 |
Variable phenotypic manifestations of a K44N mutation in the TGIF gene.
53
62
|
Richieri-Costa A...Ribeiro LA
|
17825514 |
2008 |
2 |
Sinus pericranii associated with syntelencephaly: a case report.
62
|
Fujino S...Miyama S
|
36008788 |
2022 |
3 |
Campylobacter jejuni subdural hygroma infection in a 2-year old boy: case report and a brief literature review.
62
|
Valencak-Ignjatic I...Tesovic G
|
35987621 |
2022 |
4 |
Successful treatment of hypodipsic/adipsic hypernatremia in a cat with lobar holoprosencephaly using oral desmopressin.
62
|
Akashi Y...Murakami M
|
35342639 |
2022 |
5 |
Varied presentation of lobar holoprosencephaly as a cause of macrocephaly in a neonate.
62
|
Varma A...Lakhkar BB
|
35046080 |
2022 |
6 |
Holoprosencephalia, hypoplasia of corpus callosum and cerebral heterotopia in a male belted Galloway heifer with adipsia.
62
|
Nessler J...Rehage J
|
35057802 |
2022 |
7 |
A case of lobar holoprosencephaly: brain and facial typical features.
62
|
Montaguti E...Pilu G
|
33798482 |
2021 |
8 |
MRI imaging of prenatal-postatal brain malformations.
62
|
Vegar-Zubovic S...Behmen A
|
33981374 |
2021 |
9 |
Keratan sulfate proteoglycan as an axonal insulating barrier in the forebrain of fetuses with alobar/semi-lobar holoprosencephaly.
62
|
Sarnat HB...Flores-Sarnat L
|
33287953 |
2021 |
10 |
Aventriculi associated with holoprosencephaly in a dog.
62
|
Barnard L...Cameron S
|
33009835 |
2020 |
11 |
Lobar holoprosencephaly with craniofacial defects in a Friesian calf: A case report.
62
|
Kisipan ML...Ojoo RO
|
31972069 |
2020 |
12 |
Holoprosencephaly in Kabuki syndrome.
62
|
Daly T...Bodamer O
|
31846209 |
2020 |
13 |
External and computed tomography analysis of a strophocephalic lamb.
62
|
Lejong M...Louryan S
|
30853367 |
2019 |
14 |
MRI of lobar holoprosencephaly in a cat with hypodipsic hypernatraemia.
62
|
Shimbo G...Miyahara K
|
30263144 |
2018 |
15 |
Expanding the FANCO/RAD51C associated phenotype: Cleft lip and palate and lobar holoprosencephaly, two rare findings in Fanconi anemia.
62
|
Jacquinet A...Patel MS
|
29278735 |
2018 |
16 |
Presence of Probst Bundles Indicate White Matter Remodeling in a Dog With Corpus Callosum Hypoplasia and Dysplasia.
62
|
Wang-Leandro A...Beckmann KM
|
30406119 |
2018 |
17 |
Vax1 Plays an Indirect Role in the Etiology of Murine Cleft Palate.
62
|
Geoghegan F...Cobourne MT
|
28771384 |
2017 |
18 |
Semi Lobar Holoprosencephaly with Vertebral Segmentation Defects.
62
|
Rai B...Sharif F
|
28883880 |
2017 |
19 |
Primary Abbe Flap for Median Cleft Lip Deformity: New Trends on an Old Concept.
62
|
Steinberg JP...Burstein FD
|
26967082 |
2016 |
20 |
Subcortical heterotopia appearing as huge midline mass in the newborn brain.
62
|
Fukumura S...Tsutsumi H
|
26231566 |
2016 |
21 |
Rare Disease: Lobar Holoprosencephaly With a Median Cleft Lip-Case Report.
62
|
Radojicic J...Filipovic G
|
25291088 |
2016 |
22 |
Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly.
62
|
Galante D...Caruselli M
|
26323737 |
2015 |
23 |
[Correlation of bispectral index (BIS) monitoring and end-tidal sevoflurane concentration in a patient with lobar holoprosencephaly].
62
|
Galante D...Caruselli M
|
25746337 |
2015 |
24 |
STIL mutation causes autosomal recessive microcephalic lobar holoprosencephaly.
62
|
Kakar N...Borck G
|
25218063 |
2015 |
25 |
Co-occurrence of non-mosaic trisomy 22 and inherited balanced t(4;6)(q33;q23.3) in a liveborn female: case report and review of the literature.
62
|
Kehinde FI...Liu J
|
25257307 |
2014 |
26 |
Novel interstitial deletion of 10q24.3-25.1 associated with multiple congenital anomalies including lobar holoprosencephaly, cleft lip and palate, and hypoplastic kidneys.
62
|
Peltekova IT...Armour CM
|
25257335 |
2014 |
27 |
Boc modifies the spectrum of holoprosencephaly in the absence of Gas1 function.
62
|
Seppala M...Cobourne MT
|
25063195 |
2014 |
28 |
Corpus callosal abnormalities in dogs.
62
|
Goncalves R...McConnell JF
|
24839863 |
2014 |
29 |
Precocious synapses in 13.5-week fetal holoprosencephalic cortex and cyclopean retina.
62
|
Sarnat HB...Yu W
|
24529974 |
2014 |
30 |
Distortion of the anterior part of the interhemispheric fissure: significance and implications for prenatal diagnosis.
62
|
Vinurel N...Guibaud L
|
23640781 |
2014 |
31 |
Microduplication of Xq24 and Hartsfield syndrome with holoprosencephaly, ectrodactyly, and clefting.
62
|
Takenouchi T...Kosaki K
|
22887648 |
2012 |
32 |
Holoprosencephaly: two case reports.
62
|
Poenaru MO...Marin A
|
23118821 |
2012 |
33 |
Clinical findings in patients with GLI2 mutations--phenotypic variability.
62
|
Bertolacini CD...Murray JC
|
21204792 |
2012 |
34 |
Recurrent pleural effusion without intrathoracic migration of ventriculoperitoneal shunt catheter: a case report.
62
|
Chuen-im P...Rivera-Spoljaric K
|
22170808 |
2012 |
35 |
An acardiac twin with advanced brain development and a minor form of holoprosencephaly and intracerebral retina-like pigmented tissue: a case report and review of the literature.
62
|
Huss S...Muller AM
|
21488711 |
2011 |
36 |
Recurrent partial rhombencephalosynapsis and holoprosencephaly in siblings with a mutation of ZIC2.
62
|
Ramocki MB...Clark GD
|
21638761 |
2011 |
37 |
Caudal Regression Syndrome with Partial Agenesis of the Corpus callosum and Partial Lobar Holoprosencephaly: Case report.
62
|
Hashami HA...Krishnan L
|
21509087 |
2010 |
38 |
Lobar holoprosencephaly with a median cleft: case report.
62
|
Gawrych E...Chojnacka H
|
19929095 |
2009 |
39 |
Rhombencephalosynapsis and related anomalies: a neuropathological study of 40 fetal cases.
62
|
Pasquier L...Laquerriere A
|
19057916 |
2009 |
40 |
Sensory function in severe semilobar holoprosencephaly.
62
|
Liasis A...Taylor D
|
19153870 |
2009 |
41 |
Unique mosaic X/Y translocation/insertion in infant 45,X male.
62
|
Chernykh VB...Polyakov AV
|
19012335 |
2008 |
42 |
Lobar holoprosencephaly in 18pter deletion resulting from the karyotype 45,X,-18,der(8;18)t(8; 18)(pter;p11.21).
62
|
Witters I...Fryns JP
|
19239091 |
2008 |
43 |
[Analysis of ultrasonic scans and karyotype of fetuses with holoprosencephaly diagnosed in the Department of Obstetrics & Gynecology of the Postgraduate Center of Medical Education between 1997 & 2005].
62
|
Kucinska-Chahwan A...Debski R
|
17899700 |
2007 |
44 |
3D sonographic prenatal diagnosis of lobar holoprosencephaly associated with cebocephaly. Assessment and diagnosis with multiplanar reconstruction.
62
|
Sanz-Cortes M...Bonilla-Musoles F
|
17546700 |
2007 |
45 |
Focal cerebral mantle disruption in fetal hydrocephalus.
62
|
Humphreys P...Michaud J
|
17437906 |
2007 |
46 |
Reassessment of holoprosencephaly-diencephalic hamartoblastoma (HDH) association.
62
|
Castori M...Dallapiccola B
|
17230485 |
2007 |
47 |
PTCH mutations in four Brazilian patients with holoprosencephaly and in one with holoprosencephaly-like features and normal MRI.
62
|
Ribeiro LA...Richieri-Costa A
|
17001668 |
2006 |
48 |
GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
62
|
Rahimov F...Murray JC
|
17096318 |
2006 |
49 |
Holoprosencephaly: clinical, anatomic, and molecular dimensions.
62
|
Cohen MM
|
17001700 |
2006 |
50 |
Auditory event-related responses in children with semi-lobar holoprosencephaly.
62
|
Jing H...Benasich AA
|
16481137 |
2006 |