1 |
Mutations in KCNH1 and ATP6V1B2 cause Zimmermann-Laband syndrome.
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5
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Kortum F...Kutsche K
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25915598 |
2015 |
2 |
Clinical and genetic study of two patients with Zimmermann-Laband syndrome and literature review.
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5
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Castori M...Grammatico P
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23994350 |
2013 |
3 |
No mutation in genes of the WNT signaling pathway in patients with Zimmermann-Laband syndrome.
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5
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Abo-Dalo B...Kutsche K
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18541964 |
2008 |
4 |
Expanding the phenotype of gingival fibromatosis-mental retardation-hypertrichosis (Zimmermann-Laband) syndrome.
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57
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Chacon-Camacho OF...Zenteno JC
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21626675 |
2011 |
5 |
Wide clinical spectrum in Zimmermann-Laband syndrome.
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57
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Davalos IP...Garcia-cruz D
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21614982 |
2011 |
6 |
Zimmermann-Laband syndrome in a child previously described with brachydactyly, extrahepatic biliary atresia, patent ductus arteriosus and seizures.
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57
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Balasubramanian M...Parker MJ
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20009591 |
2010 |
7 |
Candidate loci for Zimmermann-Laband syndrome at 3p14.3.
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57
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Kim HG...Gusella JF
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17163523 |
2007 |
8 |
Zimmermann-Laband syndrome: further clinical delineation.
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57
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Davalos IP...Sanchez-Corona J
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16261693 |
2005 |
9 |
Zimmermann-Laband syndrome with bilateral developmental cataract - a new association?
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57
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Shah N...Ghose S
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14706033 |
2004 |
10 |
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.
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57
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Stefanova M...Kutsche K
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12599195 |
2003 |
11 |
Zimmermann-Laband syndrome in an adult. Long-term follow-up of a patient with vascular and cardiac complications.
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57
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Robertson SP...Bankier A
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9674908 |
1998 |
12 |
Zimmermann-Laband syndrome in a patient with severe mental retardation.
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57
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Van Buggenhout GJ...Hamel BC
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8775419 |
1995 |
13 |
A new case of Zimmermann-Laband syndrome with atypical retinitis pigmentosa.
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57
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Koch P...Zaun H
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1361289 |
1992 |
14 |
The Zimmermann-Laband syndrome.
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57
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Pfeiffer RA...Tietze HU
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1740896 |
1992 |
15 |
A new case of Zimmermann-Laband syndrome with mild mental retardation, asymmetry of limbs, and hypertrichosis.
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de Pina Neto JM...Ribas JP
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3228149 |
1988 |
16 |
Zimmerman-Laband syndrome and profound mental retardation.
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57
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Chodirker BN...Reed MH
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3789014 |
1986 |
17 |
De novo variants in neurodevelopmental disorders-experiences from a tertiary care center.
5
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Brunet T...Wagner M
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33619735 |
2021 |
18 |
Brachydactyly with extrahepatic biliary atresia, patent ductus arteriosus and seizures--a new syndrome?
57
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Roper EC...Parker MJ
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15930899 |
2005 |
19 |
Hypertrichosis terminalis, gingival hyperplasia, and a characteristic face: a new distinct entity.
57
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Canun S...Rodriguez-Asbun H
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12503107 |
2003 |
20 |
Syndrome of gingival hypertrophy, hirsutism, mental retardation and brachymetacarpia in two sisters: specific entity or variant of a described condition?
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Gohlich-Ratmann G...Gillessen-Kaesbach G
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11102931 |
2000 |
21 |
Sibs with developmental delay, hirsutism and nail hypoplasia: a new syndrome.
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Stewart H...Super M
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11045578 |
2000 |
22 |
Growth deficiency, mental retardation and unusual facies.
57
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Steiner CE...Marques AP
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10826636 |
2000 |
23 |
Elephantiasis gingivae. Report of an affected family with associated hepatomegaly, soft tissue & skeletal abnormalities.
57
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Alavandar G
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5216911 |
1965 |
24 |
HEREDITARY GINGIVAL FIBROMATOSIS. REPORT OF AN AFFECTED FAMILY WITH ASSOCIATED SPLENOMEGALY AND SKELETAL AND SOFT-TISSUE ABNORMALITIES.
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LABAND PF...HUMPHREYS GS
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14130237 |
1964 |
25 |
A novel pathogenic ATP6V1B2 variant: Widening the genotypic spectrum of the epileptic neurodevelopmental phenotype.
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Veltra D...Sofocleous C
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36135319 |
2022 |
26 |
Potassium Channel KCNH1 Activating Variants Cause Altered Functional and Morphological Ciliogenesis.
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Napoli G...Caputo V
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35639255 |
2022 |
27 |
Channelopathy of small- and intermediate-conductance Ca2+-activated K+ channels.
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Nam YW...Zhang M
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35715699 |
2022 |
28 |
Patients with KCNH1-related intellectual disability without distinctive features of Zimmermann-Laband/Temple-Baraitser syndrome.
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Aubert Mucca M...Mignot C
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33811134 |
2022 |
29 |
Genetic architecture and phenotypic landscape of deafness and onychodystrophy syndromes.
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Gao X...Yuan YY
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34232384 |
2022 |
30 |
Zimmermann-Laband syndrome in monozygotic twins with a mild neurobehavioral phenotype lacking gingival overgrowth-A case report of a novel KCNN3 gene variant.
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Schwarz M...Havlovicova M
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34907639 |
2022 |
31 |
Channelopathy-causing mutations in the S45A/S45B and HA/HB helices of KCa2.3 and KCa3.1 channels alter their apparent Ca2+ sensitivity.
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Orfali R...Zhang M
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35030515 |
2022 |
32 |
Syndromes with gingival fibromatosis: A systematic review.
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Costa CRR...Acevedo AC
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32335995 |
2021 |
33 |
Minimal tooth preparation for posterior monolithic ceramic crowns: Effect on the mechanical behavior, reliability and translucency.
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Dal Piva AMO...Bottino MA
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33246664 |
2021 |
34 |
Syndromic Deafness Gene ATP6V1B2 Controls Degeneration of Spiral Ganglion Neurons Through Modulating Proton Flux.
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Qiu S...Yuan Y
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34746137 |
2021 |
35 |
Effect of microwave crystallization on the wear resistance of reinforced glass-ceramics.
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de Carvalho ABG...Kleverlaan CJ
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32750672 |
2020 |
36 |
CantĂș syndrome versus Zimmermann-Laband syndrome: Report of nine individuals with ABCC9 variants.
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Kortum F...Kutsche K
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32622958 |
2020 |
37 |
ATP6V1B2-related epileptic encephalopathy.
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Inuzuka LM...Kok F
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32597767 |
2020 |
38 |
EXOME REPORT: Novel mutation in ATP6V1B2 segregating with autosomal dominant epilepsy, intellectual disability and mild gingival and nail abnormalities.
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Shaw M...Gecz J
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31655144 |
2020 |
39 |
Three-body wear effect on different CAD/CAM ceramics staining durability.
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Dal Piva AMO...Kleverlaan CJ
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32090908 |
2020 |
40 |
"Electrifying dysmorphology": Potassium channelopathies causing dysmorphic syndromes.
62
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Hamilton MJ...Suri M
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32560786 |
2020 |
41 |
Gain-of-Function Mutations in KCNN3 Encoding the Small-Conductance Ca2+-Activated K+ Channel SK3 Cause Zimmermann-Laband Syndrome.
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Bauer CK...Kutsche K
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31155282 |
2019 |
42 |
Zimmermann-Laband syndrome: Clinical and cytogenetic study in two related patients.
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Shirian S...Daneshbod Y
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31275518 |
2019 |
43 |
Fatigue behavior of ultrafine tabletop ceramic restorations.
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Abu-Izze FO...Bottino MA
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29934124 |
2018 |
44 |
An Extremely Rare Presentation of Zimmermann-Laband Syndrome in a Twin.
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Reddy M...Ranmare V
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30693263 |
2018 |
45 |
Variants Associated with Infantile Cholestatic Syndromes Detected in Extrahepatic Biliary Atresia by Whole Exome Studies: A 20-Case Series from Thailand.
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Sangkhathat S...Chiengkriwate P
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29707407 |
2018 |
46 |
Syndromes with supernumerary teeth.
62
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Lubinsky M...Kantaputra PN
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27250821 |
2016 |
47 |
Temple-Baraitser Syndrome and Zimmermann-Laband Syndrome: one clinical entity?
62
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Megarbane A...Chouchane L
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27282200 |
2016 |
48 |
Epilepsy in KCNH1-related syndromes.
62
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Mastrangelo M...Leuzzi V
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27267311 |
2016 |
49 |
De novo KCNH1 mutations in four patients with syndromic developmental delay, hypotonia and seizures.
62
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Fukai R...Matsumoto N
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26818738 |
2016 |
50 |
'Splitting versus lumping': Temple-Baraitser and Zimmermann-Laband Syndromes.
62
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Bramswig NC...Ludecke HJ
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26264464 |
2015 |