| Asynchronous presentation and evolution of homozygous PCDH12 variant-induced exudative retinopathy in two siblings. | Asynchronous presentation and evolution of homozygous PCDH12 variant-induced exudative retinopathy in two siblings.
Youn EY, Parra V, Qian CX. | 11/15/2023 |
| PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy. | PCDH12 variants are associated with basal ganglia anomalies and exudative vitreoretinopathy.
Accogli A, El Kosseifi C, Saint-Martin C, Addour-Boudrahem N, Rivière JB, Toffoli D, Lopez I, Qian C, Koenekoop RK, Srour M. | 03/19/2022 |
| The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature. | The phenotypic spectrum of PCDH12 associated disorders - Five new cases and review of the literature.
Fazeli W, Bamborschke D, Moawia A, Bakhtiari S, Tafakhori A, Giersdorf M, Hahn A, Weik A, Kolzter K, Shafiee S, Jin SC, Körber F, Lee-Kirsch MA, Darvish H, Cirak S, Kruer MC, Koy A., Free PMC Article | 01/22/2022 |
| Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants. | Ophthalmic phenotypes associated with biallelic loss-of-function PCDH12 variants.
Mattioli F, Voisin N, Preikšaitienė E, Kozlovskaja I, Kučinskas V, Reymond A. | 08/7/2021 |
| WHSC1 gene variant is associated with dyskinetic cerebral palsy with epilepsy. | A commentary on a case of new PCDH12 gene variants presented as dyskinetic cerebral palsy with epilepsy.
Dos Santos-Junior EF, de Oliveira JRM. | 08/31/2019 |
| Autosomal-recessive malformation, diencephalic-mesencephalic junction dysplasia syndrome patients have biallelic mutations in PCDH12 and lack of protein expression. | Loss of Protocadherin-12 Leads to Diencephalic-Mesencephalic Junction Dysplasia Syndrome.
Guemez-Gamboa A, Çağlayan AO, Stanley V, Gregor A, Zaki MS, Saleem SN, Musaev D, McEvoy-Venneri J, Belandres D, Akizu N, Silhavy JL, Schroth J, Rosti RO, Copeland B, Lewis SM, Fang R, Issa MY, Per H, Gumus H, Bayram AK, Kumandas S, Akgumus GT, Erson-Omay EZ, Yasuno K, Bilguvar K, Heimer G, Pillar N, Shomron N, Weissglas-Volkov D, Porat Y, Einhorn Y, Gabriel S, Ben-Zeev B, Gunel M, Gleeson JG., Free PMC Article | 08/24/2019 |
| Homozygous PCDH12 mutation is associated with cerebellar ataxia, dystonia, retinopathy, and dysmorphism. | Homozygous PCDH12 variants result in phenotype of cerebellar ataxia, dystonia, retinopathy, and dysmorphism.
Vineeth VS, Das Bhowmik A, Balakrishnan S, Dalal A, Aggarwal S. | 03/23/2019 |
| Genome-wide analysis to determine the genetic cause of a microcephaly syndrome; found that loss of function of PCDH12 leads to recessive congenital microcephaly with profound developmental disability | Loss of function of PCDH12 underlies recessive microcephaly mimicking intrauterine infection.
Aran A, Rosenfeld N, Jaron R, Renbaum P, Zuckerman S, Fridman H, Zeligson S, Segel R, Kohn Y, Kamal L, Kanaan M, Segev Y, Mazaki E, Rabinowitz R, Shen O, Lee M, Walsh T, King MC, Gulsuner S, Levy-Lahad E., Free PMC Article | 04/29/2017 |
| PCDH12 may play an important role in human placental development, and proteolytic cleavage in response to external factors, such as cytokines and pathological settings, regulates its activity | Protocadherin-12 cleavage is a regulated process mediated by ADAM10 protein: evidence of shedding up-regulation in pre-eclampsia.
Bouillot S, Tillet E, Carmona G, Prandini MH, Gauchez AS, Hoffmann P, Alfaidy N, Cand F, Huber P., Free PMC Article | 07/16/2011 |
| A putative association was also found between protocadherin 12 and cortical folding (asymmetry coefficient of gyrification index). | Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.
Gregório SP, Sallet PC, Do KA, Lin E, Gattaz WF, Dias-Neto E, Gregório SP, Sallet PC, Do KA, Lin E, Gattaz WF, Dias-Neto E. | 01/21/2010 |
| Observational study of gene-disease association. (HuGE Navigator) | Polymorphisms in genes involved in neurodevelopment may be associated with altered brain morphology in schizophrenia: preliminary evidence.
Gregório SP, Sallet PC, Do KA, Lin E, Gattaz WF, Dias-Neto E, Gregório SP, Sallet PC, Do KA, Lin E, Gattaz WF, Dias-Neto E. | 01/11/2009 |