1 |
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
62
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Veltra D...Sofocleous C
|
36135319 |
2022 |
2 |
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
62
|
Napoli G...Caputo V
|
35639255 |
2022 |
3 |
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.
62
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Nam YW...Zhang M
|
35715699 |
2022 |
4 |
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
62
|
Aubert Mucca M...Mignot C
|
33811134 |
2022 |
5 |
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
62
|
Schwarz M...Havlovicova M
|
34907639 |
2022 |
6 |
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
62
|
Gao X...Yuan YY
|
34232384 |
2022 |
7 |
Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity.
62
|
Orfali R...Zhang M
|
35030515 |
2022 |
8 |
Syndromes with gingival fibromatosis: A systematic review.
62
|
Costa CRR...Acevedo AC
|
32335995 |
2021 |
9 |
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.
62
|
Qiu S...Yuan Y
|
34746137 |
2021 |
10 |
CantĂș syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
62
|
Kortum F...Kutsche K
|
32622958 |
2020 |
11 |
ATP6V1B2-related epileptic encephalopathy.
62
|
Inuzuka LM...Kok F
|
32597767 |
2020 |
12 |
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
62
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Shaw M...Gecz J
|
31655144 |
2020 |
13 |
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
62
|
Hamilton MJ...Suri M
|
32560786 |
2020 |
14 |
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
62
|
Bauer CK...Kutsche K
|
31155282 |
2019 |
15 |
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients.
62
|
Shirian S...Daneshbod Y
|
31275518 |
2019 |
16 |
An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin.
62
|
Reddy M...Ranmare V
|
30693263 |
2018 |
17 |
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.
62
|
Sangkhathat S...Chiengkriwate P
|
29707407 |
2018 |
18 |
Syndromes with supernumerary teeth.
62
|
Lubinsky M...Kantaputra PN
|
27250821 |
2016 |
19 |
Epilepsy in KCNH1-related syndromes.
62
|
Mastrangelo M...Leuzzi V
|
27267311 |
2016 |
20 |
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
62
|
Megarbane A...Chouchane L
|
27282200 |
2016 |
21 |
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
62
|
Fukai R...Matsumoto N
|
26818738 |
2016 |
22 |
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
62
|
Bramswig NC...Ludecke HJ
|
26264464 |
2015 |
23 |
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
62
|
Kortum F...Kutsche K
|
25915598 |
2015 |
24 |
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
62
|
Castori M...Grammatico P
|
23994350 |
2013 |
25 |
The orthodontic and surgical management of Zimmerman-Laband syndrome.
62
|
Perks T...Maggs R
|
23646327 |
2013 |
26 |
Zimmermann-Laband syndrome: a case report.
62
|
Sawaki K...Nakano M
|
22838235 |
2012 |
27 |
Current concepts on gingival fibromatosis-related syndromes.
62
|
Poulopoulos A...Sarigelou A
|
25426785 |
2011 |
28 |
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.
62
|
Chacon-Camacho OF...Zenteno JC
|
21626675 |
2011 |
29 |
Wide clinical spectrum in Zimmermann-Laband syndrome.
62
|
Davalos IP...Garcia-cruz D
|
21614982 |
2011 |
30 |
Report of a case of Zimmermann-Laband syndrome with new manifestations.
62
|
Lin Z...Huang X
|
20457511 |
2010 |
31 |
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures.
62
|
Balasubramanian M...Parker MJ
|
20009591 |
2010 |
32 |
Gingival overgrowth, congenital generalized hypertrichosis, mental retardation and epilepsy: case report and overview.
62
|
Douzgou S...Dallapiccola B
|
19625955 |
2009 |
33 |
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
62
|
Abo-Dalo B...Kutsche K
|
18541964 |
2008 |
34 |
Extensive molecular genetic analysis of the 3p14.3 region in patients with Zimmermann-Laband syndrome.
62
|
Abo-Dalo B...Kutsche K
|
17937436 |
2007 |
35 |
The phenotypic overlap of syndromes associated with hereditary gingival fibromatosis: follow-up of a family for five years.
62
|
Haytac MC...Ozcelik O
|
17395066 |
2007 |
36 |
Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
62
|
Kim HG...Gusella JF
|
17163523 |
2007 |
37 |
[Syndromic gingival fibromatosis].
62
|
Kissi L...Rifki A
|
17195004 |
2006 |
38 |
Ultrastructural investigation of Zimmermann-Laband syndrome.
62
|
Hoogendijk CF...Christianson AL
|
17182434 |
2006 |
39 |
Zimmermann-Laband syndrome in an infant with an atypical histologic finding.
62
|
Atabek ME...Toy H
|
16267629 |
2005 |
40 |
Treatment of gingival fibromatosis associated with Zimmermann-Laband syndrome.
62
|
Holzhausen M...Orrico SR
|
16171447 |
2005 |
41 |
Zimmermann-Laband syndrome: further clinical delineation.
62
|
Davalos IP...Sanchez-Corona J
|
16261693 |
2005 |
42 |
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?
62
|
Shah N...Ghose S
|
14706033 |
2004 |
43 |
A case of Zimmermann-Laband syndrome with supernumerary teeth.
62
|
Holzhausen M...Orrico SR
|
14514238 |
2003 |
44 |
Zimmermann-Laband syndrome associated with a balanced reciprocal translocation t(3;8)(p21.2;q24.3) in mother and daughter: molecular cytogenetic characterization of the breakpoint regions.
62
|
Stefanova M...Kutsche K
|
12599195 |
2003 |
45 |
Hereditary gingival fibromatosis with distinct dental, skeletal and developmental abnormalities.
62
|
Katz J...Barak S
|
12064501 |
2002 |
46 |
Zimmerman-Laband syndrome: An unusually early presentation in a newborn girl.
62
|
Dumic M...Batinica S
|
9933906 |
1999 |
47 |
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications.
62
|
Robertson SP...Bankier A
|
9674908 |
1998 |
48 |
Zimmermann-Laband syndrome in a patient with severe mental retardation.
62
|
Van Buggenhout GJ...Hamel BC
|
8775419 |
1995 |
49 |
Laband syndrome. Report of two cases, review of the literature, and identification of additional manifestations.
62
|
Chadwick B...Wilkie A
|
8078665 |
1994 |
50 |
Congenital marked hypertrichosis and Laband syndrome in a child: overlap between the gingival fibromatosis-hypertrichosis and Laband syndromes.
62
|
Lacombe D...Battin J
|
7811425 |
1994 |