A citation-based method for searching scientific literature

Ivo J P Arnhold, Marcela M França, Luciani R Carvalho, Berenice B Mendonca, Alexander A L Jorge. J Mol Endocrinol 2015
Times Cited: 39







List of co-cited articles
408 articles co-cited >1



Times Cited
  Times     Co-cited
Similarity


Novel heterozygous nonsense GLI2 mutations in patients with hypopituitarism and ectopic posterior pituitary lobe without holoprosencephaly.
Marcela M França, Alexander A L Jorge, Luciani R S Carvalho, Everlayny F Costalonga, Gabriela A Vasques, Claudia C Leite, Berenice B Mendonca, Ivo J P Arnhold. J Clin Endocrinol Metab 2010
73
46

Loss-of-function mutations in the human GLI2 gene are associated with pituitary anomalies and holoprosencephaly-like features.
Erich Roessler, Yang-Zhu Du, Jose L Mullor, Esther Casas, William P Allen, Gabriele Gillessen-Kaesbach, Elizabeth R Roeder, Jeffrey E Ming, Ariel Ruiz i Altaba, Maximilian Muenke. Proc Natl Acad Sci U S A 2003
238
43

Pathogenic mutations in GLI2 cause a specific phenotype that is distinct from holoprosencephaly.
Kelly A Bear, Benjamin D Solomon, Sonir Antonini, Ivo J P Arnhold, Marcela M França, Erica H Gerkes, Dorothy K Grange, Donald W Hadley, Jarmo Jääskeläinen, Sabrina S Paulo,[...]. J Med Genet 2014
40
41

Genetics of Combined Pituitary Hormone Deficiency: Roadmap into the Genome Era.
Qing Fang, Akima S George, Michelle L Brinkmeier, Amanda H Mortensen, Peter Gergics, Leonard Y M Cheung, Alexandre Z Daly, Adnan Ajmal, María Ines Pérez Millán, A Bilge Ozel,[...]. Endocr Rev 2016
87
35

Frequency of genetic defects in combined pituitary hormone deficiency: a systematic review and analysis of a multicentre Italian cohort.
Francesca De Rienzo, Simona Mellone, Simonetta Bellone, Deepak Babu, Ileana Fusco, Flavia Prodam, Antonella Petri, Ranjith Muniswamy, Filippo De Luca, Mariacarolina Salerno,[...]. Clin Endocrinol (Oxf) 2015
51
30

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.
Sue Richards, Nazneen Aziz, Sherri Bale, David Bick, Soma Das, Julie Gastier-Foster, Wayne W Grody, Madhuri Hegde, Elaine Lyon, Elaine Spector,[...]. Genet Med 2015
28

Genetic overlap in Kallmann syndrome, combined pituitary hormone deficiency, and septo-optic dysplasia.
Taneli Raivio, Magdalena Avbelj, Mark J McCabe, Christopher J Romero, Andrew A Dwyer, Johanna Tommiska, Gerasimos P Sykiotis, Louise C Gregory, Daniel Diaczok, Vaitsa Tziaferi,[...]. J Clin Endocrinol Metab 2012
89
28

Genetic regulation of pituitary gland development in human and mouse.
Daniel Kelberman, Karine Rizzoti, Robin Lovell-Badge, Iain C A F Robinson, Mehul T Dattani. Endocr Rev 2009
251
25

ARNT2 mutation causes hypopituitarism, post-natal microcephaly, visual and renal anomalies.
Emma A Webb, Angham AlMutair, Daniel Kelberman, Chiara Bacchelli, Estelle Chanudet, Francesco Lescai, Cynthia L Andoniadou, Abdul Banyan, Al Alsawaid, Muhammad T Alrifai,[...]. Brain 2013
40
25

A previously unidentified amino-terminal domain regulates transcriptional activity of wild-type and disease-associated human GLI2.
Erich Roessler, Alexandre N Ermilov, Dorothy Katherine Grange, Aiqin Wang, Marina Grachtchouk, Andrzej A Dlugosz, Maximilian Muenke. Hum Mol Genet 2005
127
23

Functional characterization of a heterozygous GLI2 missense mutation in patients with multiple pituitary hormone deficiency.
G M C Flemming, J Klammt, G Ambler, Y Bao, W F Blum, C Cowell, K Donaghue, N Howard, A Kumar, J Sanchez,[...]. J Clin Endocrinol Metab 2013
26
34

Clinical findings in patients with GLI2 mutations--phenotypic variability.
C D P Bertolacini, L A Ribeiro-Bicudo, A Petrin, A Richieri-Costa, J C Murray. Clin Genet 2012
42
23

PROKR2 variants in multiple hypopituitarism with pituitary stalk interruption.
Rachel Reynaud, Sujatha A Jayakody, Carine Monnier, Alexandru Saveanu, Jérome Bouligand, Anne-Marie Guedj, Gilbert Simonin, Pierre Lecomte, Anne Barlier, Philippe Rondard,[...]. J Clin Endocrinol Metab 2012
50
20

A Nonsense Mutation in the Hedgehog Receptor CDON Associated With Pituitary Stalk Interruption Syndrome.
A Bashamboo, J Bignon-Topalovic, H Rouba, K McElreavey, R Brauner. J Clin Endocrinol Metab 2016
31
25

FGFR1 and PROKR2 rare variants found in patients with combined pituitary hormone deficiencies.
Fernanda A Correa, Ericka B Trarbach, Cintia Tusset, Ana Claudia Latronico, Luciana R Montenegro, Luciani R Carvalho, Marcela M Franca, Aline P Otto, Everlayny F Costalonga, Vinicius N Brito,[...]. Endocr Connect 2015
26
30


The role of the sonic hedgehog signalling pathway in patients with midline defects and congenital hypopituitarism.
L C Gregory, C Gaston-Massuet, C L Andoniadou, G Carreno, E A Webb, D Kelberman, M J McCabe, L Panagiotakopoulos, J W Saldanha, H A Spoudeas,[...]. Clin Endocrinol (Oxf) 2015
19
42

Mutations within Sox2/SOX2 are associated with abnormalities in the hypothalamo-pituitary-gonadal axis in mice and humans.
Daniel Kelberman, Karine Rizzoti, Ariel Avilion, Maria Bitner-Glindzicz, Stefano Cianfarani, Julie Collins, W Kling Chong, Jeremy M W Kirk, John C Achermann, Richard Ross,[...]. J Clin Invest 2006
216
17

Whole-exome sequencing identifies homozygous GPR161 mutation in a family with pituitary stalk interruption syndrome.
Ender Karaca, Ramazan Buyukkaya, Davut Pehlivan, Wu-Lin Charng, Kursat O Yaykasli, Yavuz Bayram, Tomasz Gambin, Marjorie Withers, Mehmed M Atik, Ilknur Arslanoglu,[...]. J Clin Endocrinol Metab 2015
41
17

Novel FGF8 mutations associated with recessive holoprosencephaly, craniofacial defects, and hypothalamo-pituitary dysfunction.
Mark J McCabe, Carles Gaston-Massuet, Vaitsa Tziaferi, Louise C Gregory, Kyriaki S Alatzoglou, Massimo Signore, Eduardo Puelles, Dianne Gerrelli, I Sadaf Farooqi, Jamal Raza,[...]. J Clin Endocrinol Metab 2011
80
17

Relatively high frequency of non-synonymous GLI2 variants in patients with congenital hypopituitarism without holoprosencephaly.
Marcela M França, Alexander A L Jorge, Luciani R S Carvalho, Everlayny F Costalonga, Aline P Otto, Fernanda A Correa, Berenice B Mendonca, Ivo J P Arnhold. Clin Endocrinol (Oxf) 2013
26
26

Pituitary stalk interruption syndrome and isolated pituitary hypoplasia may be caused by mutations in holoprosencephaly-related genes.
Christina Tatsi, Amalia Sertedaki, Antonis Voutetakis, Eleni Valavani, Maria-Alexandra Magiakou, Christina Kanaka-Gantenbein, George P Chrousos, Catherine Dacou-Voutetakis. J Clin Endocrinol Metab 2013
35
20

Genesis of two most prevalent PROP1 gene variants causing combined pituitary hormone deficiency in 21 populations.
Petra Dusatkova, Roland Pfäffle, Milton R Brown, Natallia Akulevich, Ivo J P Arnhold, Maria A Kalina, Karolina Kot, Ciril Krzisnik, Manuel C Lemos, Jana Malikova,[...]. Eur J Hum Genet 2016
21
33

Variations in PROKR2, but not PROK2, are associated with hypopituitarism and septo-optic dysplasia.
Mark J McCabe, Carles Gaston-Massuet, Louise C Gregory, Kyriaki S Alatzoglou, Vaitsa Tziaferi, Oualid Sbai, Philippe Rondard, Koh-hei Masumoto, Mamoru Nagano, Yasufumi Shigeyoshi,[...]. J Clin Endocrinol Metab 2013
38
15

Genetic screening of combined pituitary hormone deficiency: experience in 195 patients.
Rachel Reynaud, Magali Gueydan, Alexandru Saveanu, Sophie Vallette-Kasic, Alain Enjalbert, Thierry Brue, Anne Barlier. J Clin Endocrinol Metab 2006
98
15

GLI2 mutations in four Brazilian patients: how wide is the phenotypic spectrum?
Fedik Rahimov, Lucilene Arilho Ribeiro, Eziquiel de Miranda, Antonio Richieri-Costa, Jeffrey C Murray. Am J Med Genet A 2006
43
15

Combined pituitary hormone deficiency: current and future status.
F Castinetti, R Reynaud, M-H Quentien, N Jullien, E Marquant, C Rochette, J-P Herman, A Saveanu, A Barlier, A Enjalbert,[...]. J Endocrinol Invest 2015
23
26

Novel mutations within the POU1F1 gene associated with variable combined pituitary hormone deficiency.
James P G Turton, Rachel Reynaud, Ameeta Mehta, John Torpiano, Alexandru Saveanu, Kathryn S Woods, Anatoly Tiulpakov, Vera Zdravkovic, Jill Hamilton, Simon Attard-Montalto,[...]. J Clin Endocrinol Metab 2005
73
15

Mutations in the homeobox gene HESX1/Hesx1 associated with septo-optic dysplasia in human and mouse.
M T Dattani, J P Martinez-Barbera, P Q Thomas, J M Brickman, R Gupta, I L Mårtensson, H Toresson, M Fox, J K Wales, P C Hindmarsh,[...]. Nat Genet 1998
500
15

Over- and underdosage of SOX3 is associated with infundibular hypoplasia and hypopituitarism.
Kathryn S Woods, Maria Cundall, James Turton, Karine Rizotti, Ameeta Mehta, Rodger Palmer, Jacqueline Wong, W K Chong, Mahmoud Al-Zyoud, Maryam El-Ali,[...]. Am J Hum Genet 2005
165
15

Mutations in PROP1 cause familial combined pituitary hormone deficiency.
W Wu, J D Cogan, R W Pfäffle, J S Dasen, H Frisch, S M O'Connell, S E Flynn, M R Brown, P E Mullis, J S Parks,[...]. Nat Genet 1998
367
15

Frequent development of combined pituitary hormone deficiency in patients initially diagnosed as isolated growth hormone deficiency: a long term follow-up of patients from a single center.
Aline P Otto, Marcela M França, Fernanda A Correa, Everlayny F Costalonga, Claudia C Leite, Berenice B Mendonca, Ivo J P Arnhold, Luciani R S Carvalho, Alexander A L Jorge. Pituitary 2015
22
27

A patient with a mild holoprosencephaly spectrum phenotype and heterotaxy and a 1.3 Mb deletion encompassing GLI2.
Sietske H G Kevelam, Jeske J T van Harssel, Bert van der Zwaag, Hubertus J M Smeets, Aimee D C Paulussen, Klaske D Lichtenbelt. Am J Med Genet A 2012
23
26

Transcription factor 7-like 1 is involved in hypothalamo-pituitary axis development in mice and humans.
Carles Gaston-Massuet, Mark J McCabe, Valeria Scagliotti, Rodrigo M Young, Gabriela Carreno, Louise C Gregory, Sujatha A Jayakody, Sara Pozzi, Angelica Gualtieri, Basudha Basu,[...]. Proc Natl Acad Sci U S A 2016
31
19

PROP1 mutations cause progressive deterioration of anterior pituitary function including adrenal insufficiency: a longitudinal analysis.
Antje Böttner, Eberhard Keller, Jürgen Kratzsch, Heike Stobbe, Johannes F W Weigel, Alexandra Keller, Wolfgang Hirsch, Wieland Kiess, Werner F Blum, Roland W Pfäffle. J Clin Endocrinol Metab 2004
88
15

Gli proteins in development and disease.
Chi-Chung Hui, Stephane Angers. Annu Rev Cell Dev Biol 2011
459
15

A familial GLI2 deletion (2q14.2) not associated with the holoprosencephaly syndrome phenotype.
Ulrike Kordaß, Carmen Schröder, Miriam Elbracht, Lukas Soellner, Thomas Eggermann. Am J Med Genet A 2015
11
54

Heterozygous defects in PAX6 gene and congenital hypopituitarism.
Masaki Takagi, Keisuke Nagasaki, Ikuma Fujiwara, Tomohiro Ishii, Naoko Amano, Yumi Asakura, Koji Muroya, Yukihiro Hasegawa, Masanori Adachi, Tomonobu Hasegawa. Eur J Endocrinol 2015
14
35

The IGSF1 deficiency syndrome: characteristics of male and female patients.
S D Joustra, N Schoenmakers, L Persani, I Campi, M Bonomi, G Radetti, P Beck-Peccoz, H Zhu, T M E Davis, Y Sun,[...]. J Clin Endocrinol Metab 2013
55
12

Novel Lethal Form of Congenital Hypopituitarism Associated With the First Recessive LHX4 Mutation.
L C Gregory, K N Humayun, J P G Turton, M J McCabe, S J Rhodes, M T Dattani. J Clin Endocrinol Metab 2015
23
21

Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement.
Yu Sun, Beata Bak, Nadia Schoenmakers, A S Paul van Trotsenburg, Wilma Oostdijk, Peter Voshol, Emma Cambridge, Jacqueline K White, Paul le Tissier, S Neda Mousavy Gharavy,[...]. Nat Genet 2012
118
12

Gradual loss of ACTH due to a novel mutation in LHX4: comprehensive mutation screening in Japanese patients with congenital hypopituitarism.
Masaki Takagi, Tomohiro Ishii, Mikako Inokuchi, Naoko Amano, Satoshi Narumi, Yumi Asakura, Koji Muroya, Yukihiro Hasegawa, Masanori Adachi, Tomonobu Hasegawa. PLoS One 2012
21
23

Symptomatic heterozygotes and prenatal diagnoses in a nonconsanguineous family with syndromic combined pituitary hormone deficiency resulting from two novel LHX3 mutations.
Marie-Laure Sobrier, Cécile Brachet, Marie-Pierre Vié-Luton, Christelle Perez, Bruno Copin, Marie Legendre, Claudine Heinrichs, Serge Amselem. J Clin Endocrinol Metab 2012
18
27

Pituitary stalk interruption syndrome in 83 patients: novel HESX1 mutation and severe hormonal prognosis in malformative forms.
R Reynaud, F Albarel, A Saveanu, N Kaffel, F Castinetti, P Lecomte, R Brauner, G Simonin, J Gaudart, E Carmona,[...]. Eur J Endocrinol 2011
56
12

PROP1 triggers epithelial-mesenchymal transition-like process in pituitary stem cells.
María Inés Pérez Millán, Michelle L Brinkmeier, Amanda H Mortensen, Sally A Camper. Elife 2016
39
12

Three novel missense mutations within the LHX4 gene are associated with variable pituitary hormone deficiencies.
Roland W Pfaeffle, Chad S Hunter, Jesse J Savage, Mario Duran-Prado, Rachel D Mullen, Zachary P Neeb, Urs Eiholzer, Volker Hesse, Nadine G Haddad, Heike M Stobbe,[...]. J Clin Endocrinol Metab 2008
71
12


"Hot spot" in the PROP1 gene responsible for combined pituitary hormone deficiency.
J Deladoëy, C Flück, A Büyükgebiz, B V Kuhlmann, A Eblé, P C Hindmarsh, W Wu, P E Mullis. J Clin Endocrinol Metab 1999
137
12

Specification of pituitary cell lineages by the LIM homeobox gene Lhx3.
H Z Sheng, A B Zhadanov, B Mosinger, T Fujii, S Bertuzzi, A Grinberg, E J Lee, S P Huang, K A Mahon, H Westphal. Science 1996
361
12

Functional characterization of a human POU1F1 mutation associated with isolated growth hormone deficiency: a novel etiology for IGHD.
Marie-Laure Sobrier, Yu-Cheng Tsai, Christelle Pérez, Bruno Leheup, Tahar Bouceba, Philippe Duquesnoy, Bruno Copin, Daria Sizova, Alfredo Penzo, Ben Z Stanger,[...]. Hum Mol Genet 2016
24
20


Co-cited is the co-citation frequency, indicating how many articles cite the article together with the query article. Similarity is the co-citation as percentage of the times cited of the query article or the article in the search results, whichever is the lowest. These numbers are calculated for the last 100 citations when articles are cited more than 100 times.