Literature DB >> 18203175

Pituitary hypoplasia and growth hormone deficiency in Coffin-Siris syndrome.

Anwar Baban1, Luca Moresco, Maria Teresa Divizia, Andrea Rossi, Roberto Ravazzolo, Margherita Lerone, Teresa De Toni.   

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Year:  2008        PMID: 18203175     DOI: 10.1002/ajmg.a.32111

Source DB:  PubMed          Journal:  Am J Med Genet A        ISSN: 1552-4825            Impact factor:   2.802


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  4 in total

1.  The Coffin-Siris syndrome: a proposed diagnostic approach and assessment of 15 overlapping cases.

Authors:  Samantha A Schrier; Joann N Bodurtha; Barbara Burton; Albert E Chudley; Mary Anne D Chiong; Maria Gabriella D'avanzo; Sally Ann Lynch; Antonio Musio; Dmitriy M Nyazov; Pedro A Sanchez-Lara; Stavit A Shalev; Matthew A Deardorff
Journal:  Am J Med Genet A       Date:  2012-06-18       Impact factor: 2.802

2.  Pituitary stalk interruption syndrome is characterized by genetic heterogeneity.

Authors:  Raja Brauner; Joelle Bignon-Topalovic; Anu Bashamboo; Ken McElreavey
Journal:  PLoS One       Date:  2020-12-03       Impact factor: 3.240

3.  Pituitary hypoplasia and growth hormone deficiency in a patient with Coffin-Siris syndrome and severe short stature: case report and literature review.

Authors:  Stefana Catalina Bilha; Laura Teodoriu; Cristian Velicescu; Lavinia Caba
Journal:  Arch Clin Cases       Date:  2022-09-26

4.  The ARID1B spectrum in 143 patients: from nonsyndromic intellectual disability to Coffin-Siris syndrome.

Authors:  Pleuntje J van der Sluijs; Sandra Jansen; Samantha A Vergano; Miho Adachi-Fukuda; Yasemin Alanay; Adila AlKindy; Anwar Baban; Allan Bayat; Stefanie Beck-Wödl; Katherine Berry; Emilia K Bijlsma; Levinus A Bok; Alwin F J Brouwer; Ineke van der Burgt; Philippe M Campeau; Natalie Canham; Krystyna Chrzanowska; Yoyo W Y Chu; Brain H Y Chung; Karin Dahan; Marjan De Rademaeker; Anne Destree; Tracy Dudding-Byth; Rachel Earl; Nursel Elcioglu; Ellen R Elias; Christina Fagerberg; Alice Gardham; Blanca Gener; Erica H Gerkes; Ute Grasshoff; Arie van Haeringen; Karin R Heitink; Johanna C Herkert; Nicolette S den Hollander; Denise Horn; David Hunt; Sarina G Kant; Mitsuhiro Kato; Hülya Kayserili; Rogier Kersseboom; Esra Kilic; Malgorzata Krajewska-Walasek; Kylin Lammers; Lone W Laulund; Damien Lederer; Melissa Lees; Vanesa López-González; Saskia Maas; Grazia M S Mancini; Carlo Marcelis; Francisco Martinez; Isabelle Maystadt; Marianne McGuire; Shane McKee; Sarju Mehta; Kay Metcalfe; Jeff Milunsky; Seiji Mizuno; John B Moeschler; Christian Netzer; Charlotte W Ockeloen; Barbara Oehl-Jaschkowitz; Nobuhiko Okamoto; Sharon N M Olminkhof; Carmen Orellana; Laurent Pasquier; Caroline Pottinger; Vera Riehmer; Stephen P Robertson; Maian Roifman; Caroline Rooryck; Fabienne G Ropers; Monica Rosello; Claudia A L Ruivenkamp; Mahmut S Sagiroglu; Suzanne C E H Sallevelt; Amparo Sanchis Calvo; Pelin O Simsek-Kiper; Gabriela Soares; Lucia Solaeche; Fatma Mujgan Sonmez; Miranda Splitt; Duco Steenbeek; Alexander P A Stegmann; Constance T R M Stumpel; Saori Tanabe; Eyyup Uctepe; G Eda Utine; Hermine E Veenstra-Knol; Sunita Venkateswaran; Catheline Vilain; Catherine Vincent-Delorme; Anneke T Vulto-van Silfhout; Patricia Wheeler; Golder N Wilson; Louise C Wilson; Bernd Wollnik; Tomoki Kosho; Dagmar Wieczorek; Evan Eichler; Rolph Pfundt; Bert B A de Vries; Jill Clayton-Smith; Gijs W E Santen
Journal:  Genet Med       Date:  2018-11-08       Impact factor: 8.822

  4 in total

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