| 1 |
Pitt-Hopkins Syndrome: A Review of Current Literature, Clinical Approach, and 23-Patient Case Series. ( 29318938
)
|
Goodspeed K....Golla S.
|
2018 |
| 2 |
Common Pathophysiology in Multiple Mouse Models of Pitt-Hopkins Syndrome. ( 29222403
)
|
Thaxton C....Philpot B.D.
|
2018 |
| 3 |
Osteopathic Manipulative Treatment Limits Chronic Constipation in a Child with Pitt-Hopkins Syndrome. ( 28251008
)
|
Aquino A....Uberti S.
|
2017 |
| 4 |
Impairment of different protein domains causes variable clinical presentation within Pitt-Hopkins syndrome and suggests intragenic molecular syndromology of TCF4. ( 28807867
)
|
Bedeschi M.F....Zollino M.
|
2017 |
| 5 |
WNT/I^-Catenin Pathway and Epigenetic Mechanisms Regulate the Pitt-Hopkins Syndrome and Schizophrenia Risk Gene TCF4. ( 28879201
)
|
Hennig K.M....Haggarty S.J.
|
2017 |
| 6 |
An adapted walking intervention for a child with Pitt Hopkins syndrome(). ( 28125296
)
|
Casey A.F....MacNeil Z.
|
2017 |
| 7 |
A case of Pitt-Hopkins syndrome presented with Angelman-like syndromic phenotypes. ( 27864810
)
|
Hong S.Y....Tsai F.J.
|
2016 |
| 8 |
Partial deletion of TCF4 in three generation family with non-syndromic intellectual disability, without features of Pitt-Hopkins syndrome. ( 27132474
)
|
Kharbanda M....Sepp M.
|
2016 |
| 9 |
Phenotype and natural history in 101 individuals with Pitt-Hopkins syndrome through an internet questionnaire system. ( 27072915
)
|
de Winter C.F....Hennekam R.C.
|
2016 |
| 10 |
Neurodevelopmental models of transcription factor 4 deficiency converge on a common ion channel as a potential therapeutic target for Pitt Hopkins syndrome. ( 28032012
)
|
Rannals M.D....Maher B.J.
|
2016 |
| 11 |
Pitt-Hopkins Syndrome and Differential Diagnosis: A Molecular and Clinical Challenge. ( 27617128
)
|
Marangi G....Zollino M.
|
2015 |
| 12 |
Introducing Pitt-Hopkins syndrome-associated mutations of TCF4 to Drosophila daughterless. ( 26621827
)
|
Tamberg L....Palgi M.
|
2015 |
| 13 |
Successful use of acetazolamide for central apnea in a child with Pitt-Hopkins syndrome. ( 25900839
)
|
Gaffney C....McNally P.
|
2015 |
| 14 |
Pitt-Hopkins syndrome: Mental retardation, psychomotor and developmental delays with facial dysmorphism. ( 27625870
)
|
Avina Fierro J.A....Avina D.A.
|
2014 |
| 15 |
Previously unreported difficult intubation in a child with Pitt-Hopkins syndrome. ( 24383606
)
|
Navaratnarajah J.
|
2013 |
| 16 |
Somatic mosaicism in a mother of two children with Pitt-Hopkins syndrome. ( 22335494
)
|
Steinbusch C.V....Schrander-Stumpel C.T.
|
2013 |
| 17 |
A case of Pitt-Hopkins syndrome with absence of hyperventilation. ( 23248353
)
|
Inati A....Saab R.
|
2013 |
| 18 |
Pitt-Hopkins Syndrome: intellectual disability due to loss of TCF4-regulated gene transcription. ( 23640545
)
|
Sweatt J.D.
|
2013 |
| 19 |
263.4A kb deletion within the TCF4 gene consistent with Pitt-Hopkins syndrome, inherited from a mosaic parent with normal phenotype. ( 23528641
)
|
Kousoulidou L....Anastasiadou V.
|
2013 |
| 20 |
Novel comprehensive diagnostic strategy in Pitt-Hopkins syndrome: clinical score and further delineation of the TCF4 mutational spectrum. ( 22045651
)
|
Whalen S....Giurgea I.
|
2012 |
| 21 |
Tissue-limited ring chromosome 18 mosaicism as a cause of Pitt-Hopkins syndrome. ( 22887345
)
|
Takenouchi T....Kosaki K.
|
2012 |
| 22 |
Acetazolamide for severe apnea in Pitt-Hopkins syndrome. ( 22407847
)
|
Verhulst S.L....De Backer W.
|
2012 |
| 23 |
Functional analysis of TCF4 missense mutations that cause Pitt- Hopkins syndrome. ( 22777675
)
|
Forrest M....Blake D.J.
|
2012 |
| 24 |
Proposal of a clinical score for the molecular test for Pitt-Hopkins syndrome. ( 22678594
)
|
Marangi G....Zollino M.
|
2012 |
| 25 |
|
Pratt V....Rubinstein W.
|
2012 |
| 26 |
Development, cognition, and behaviour in Pitt-Hopkins syndrome. ( 22712893
)
|
Van Balkom I.D....Hennekam R.C.
|
2012 |
| 27 |
Pitt-Hopkins syndrome in a boy with Charcot Marie Tooth disease type 1A: a rare co-occurrence of 2 genetic disorders. ( 22378661
)
|
Ghosh P.S....Ghosh D.
|
2012 |
| 28 |
|
Peippo M....Ignatius J.
|
2012 |
| 29 |
Pitt-Hopkins syndrome-associated mutations in TCF4 lead to variable impairment of the transcription factor function ranging from hypomorphic to dominant-negative effects. ( 22460224
)
|
Sepp M....Timmusk T.
|
2012 |
| 30 |
Clinical and polygraphic improvement of breathing abnormalities after valproate in a case of Pitt-Hopkins syndrome. ( 22378662
)
|
Maini I....Pisani F.
|
2012 |
| 31 |
Fetal pads as a clue to the diagnosis of Pitt-Hopkins syndrome. ( 21671383
)
|
Lehalle D....Clayton-Smith J.
|
2011 |
| 32 |
Pitt-Hopkins syndrome should be in the differential diagnosis for males presenting with an ATR-X phenotype. ( 22040220
)
|
Takano K....Schwartz C.E.
|
2011 |
| 33 |
Neurologic and ocular phenotype in Pitt-Hopkins syndrome and a zebrafish model. ( 21544580
)
|
Brockschmidt A....Weber R.G.
|
2011 |
| 34 |
The Pitt-Hopkins syndrome: report of 16 new patients and clinical diagnostic criteria. ( 21671391
)
|
Marangi G....Zollino M.
|
2011 |
| 35 |
TCF4, schizophrenia, and Pitt-Hopkins Syndrome. ( 20421335
)
|
Blake D.J....Owen M.J.
|
2010 |
| 36 |
Pitt-Hopkins syndrome: report of a case with a TCF4 gene mutation. ( 20205897
)
|
Taddeucci G....Tarantino E.
|
2010 |
| 37 |
Mutational, functional, and expression studies of the TCF4 gene in Pitt-Hopkins syndrome. ( 19235238
)
|
de Pontual L....Amiel J.
|
2009 |
| 38 |
Genotype-phenotype analysis of TCF4 mutations causing Pitt-Hopkins syndrome shows increased seizure activity with missense mutations. ( 19938247
)
|
Rosenfeld J.A....Shaffer L.G.
|
2009 |
| 39 |
TCF4 deletions in Pitt-Hopkins Syndrome. ( 18781613
)
|
Giurgea I....Moncla A.
|
2008 |
| 40 |
Disruption of the TCF4 gene in a girl with mental retardation but without the classical Pitt-Hopkins syndrome. ( 18627065
)
|
Kalscheuer V.M....Ropers H.H.
|
2008 |
| 41 |
Further delineation of Pitt-Hopkins syndrome: phenotypic and genotypic description of 16 novel patients. ( 18728071
)
|
Zweier C....Rauch A.
|
2008 |
| 42 |
Hyperventilation and the Pitt-Hopkins syndrome. ( 18611190
)
|
Ouvrier R.
|
2008 |
| 43 |
Severe mental retardation with breathing abnormalities (Pitt-Hopkins syndrome) is caused by haploinsufficiency of the neuronal bHLH transcription factor TCF4. ( 17478476
)
|
Brockschmidt A....Weber R.G.
|
2007 |
| 44 |
Mutations in TCF4, encoding a class I basic helix-loop-helix transcription factor, are responsible for Pitt-Hopkins syndrome, a severe epileptic encephalopathy associated with autonomic dysfunction. ( 17436254
)
|
Amiel J....Colleaux L.
|
2007 |
| 45 |
Haploinsufficiency of TCF4 causes syndromal mental retardation with intermittent hyperventilation (Pitt-Hopkins syndrome). ( 17436255
)
|
Zweier C....Rauch A.
|
2007 |
| 46 |
Pitt-Hopkins syndrome in two patients and further definition of the phenotype. ( 16531728
)
|
Peippo M.M....Ignatius J.
|
2006 |
| 47 |
Possible case of Pitt-Hopkins syndrome in sibs. ( 11568923
)
|
Orrico A....Hayek G.
|
2001 |
| 48 |
Mental retardation, "coarse" face, and hyperbreathing: confirmation of the Pitt-Hopkins syndrome. ( 9475596
)
|
Van Balkom I.D....Hennekam R.C.
|
1998 |
| 49 |
|
Pagon R.A....Stephens K.
|
1993 |
