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161.
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Impact of heterozygosity for acid-labile subunit (IGFALS) gene mutations on stature: results from the international acid-labile subunit consortium. [electronic resource] by
- Fofanova-Gambetti, Olga V
- Hwa, Vivian
- Wit, Jan M
- Domene, Horacio M
- Argente, Jesús
- Bang, Peter
- Högler, Wolfgang
- Kirsch, Susan
- Pihoker, Catherine
- Chiu, Harvey K
- Cohen, Laurie
- Jacobsen, Christina
- Jasper, Hector G
- Haeusler, Gabriele
- Campos-Barros, Angel
- Gallego-Gómez, Elena
- Gracia-Bouthelier, Ricardo
- van Duyvenvoorde, Hermine A
- Pozo, Jesús
- Rosenfeld, Ron G
Producer: 20100928
In:
The Journal of clinical endocrinology and metabolism vol. 95
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162.
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An activating mutation in the kinase homology domain of the natriuretic peptide receptor-2 causes extremely tall stature without skeletal deformities. [electronic resource] by
- Hannema, Sabine E
- van Duyvenvoorde, Hermine A
- Premsler, Thomas
- Yang, Ruey-Bing
- Mueller, Thomas D
- Gassner, Birgit
- Oberwinkler, Heike
- Roelfsema, Ferdinand
- Santen, Gijs W E
- Prickett, Timothy
- Kant, Sarina G
- Verkerk, Annemieke J M H
- Uitterlinden, André G
- Espiner, Eric
- Ruivenkamp, Claudia A L
- Oostdijk, Wilma
- Pereira, Alberto M
- Losekoot, Monique
- Kuhn, Michaela
- Wit, Jan M
Producer: 20140414
In:
The Journal of clinical endocrinology and metabolism vol. 98
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163.
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Genotype-phenotype correlation in patients suspected of having Sotos syndrome. [electronic resource] by
- de Boer, Lonneke
- Kant, Sarina G
- Karperien, Marcel
- van Beers, Lotte
- Tjon, Jennifer
- Vink, Geraldine R
- van Tol, Dewy
- Dauwerse, Hans
- le Cessie, Saskia
- Beemer, Frits A
- van der Burgt, Ineke
- Hamel, Ben C J
- Hennekam, Raoul C
- Kuhnle, Ursula
- Mathijssen, Inge B
- Veenstra-Knol, Hermine E
- Stumpel, Connie T Schrander
- Breuning, Martijn H
- Wit, Jan M
Producer: 20050222
In:
Hormone research vol. 62
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164.
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Is IGSF1 involved in human pituitary tumor formation? [electronic resource] by
- Faucz, Fabio R
- Horvath, Anelia D
- Azevedo, Monalisa F
- Levy, Isaac
- Bak, Beata
- Wang, Ying
- Xekouki, Paraskevi
- Szarek, Eva
- Gourgari, Evgenia
- Manning, Allison D
- de Alexandre, Rodrigo Bertollo
- Saloustros, Emmanouil
- Trivellin, Giampaolo
- Lodish, Maya
- Hofman, Paul
- Anderson, Yvonne C
- Holdaway, Ian
- Oldfield, Edward
- Chittiboina, Prashant
- Nesterova, Maria
- Biermasz, Nienke R
- Wit, Jan M
- Bernard, Daniel J
- Stratakis, Constantine A
Producer: 20150806
In:
Endocrine-related cancer vol. 22
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165.
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Functional outcomes and participation in young adulthood for very preterm and very low birth weight infants: the Dutch Project on Preterm and Small for Gestational Age Infants at 19 years of age. [electronic resource] by
- Hille, Elysée T M
- Weisglas-Kuperus, Nynke
- van Goudoever, J B
- Jacobusse, Gert W
- Ens-Dokkum, Martina H
- de Groot, Laila
- Wit, Jan M
- Geven, Wil B
- Kok, Joke H
- de Kleine, Martin J K
- Kollée, Louis A A
- Mulder, A L M
- van Straaten, H L M
- de Vries, Linda S
- van Weissenbruch, Mirjam M
- Verloove-Vanhorick, S Pauline
Producer: 20071108
In:
Pediatrics vol. 120
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166.
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Long-term effects of previous oxandrolone treatment in adult women with Turner syndrome. [electronic resource] by
- Freriks, Kim
- Sas, Theo C J
- Traas, Maaike A F
- Netea-Maier, Romana T
- den Heijer, Martin
- Hermus, Ad R M M
- Wit, Jan M
- van Alfen-van der Velden, Janiëlle A E M
- Otten, Barto J
- de Muinck Keizer-Schrama, Sabine M P F
- Gotthardt, Martin
- Dejonckere, Philippe H
- Zandwijken, Gladys R J
- Menke, Leonie A
- Timmers, Henri J L M
Producer: 20130204
In:
European journal of endocrinology vol. 168
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167.
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"Proceedings of the 22nd Aschauer Soiree on Growth and Health Screening", held at Altenhof, Germany, November 15th, 2014. [electronic resource] by
- Hermanussen, Michael
- Anisimova, Anna
- Abmann, Christian
- Van Buuren, Stef
- Camara, Antonio D
- Elhusseini, Mona Abbas
- Hassan, Mortada
- El-Shabrawi, Mortada Hassan
- Godina, Elena Zinovyevna
- Gomula, Aleksandra
- Groth, Detlef
- Koziel, Slawomir
- Lieberman, Leslie Sue
- Meigen, Christof
- Mumm, Rebekka
- Nariyama, Koichi
- Nowak-Szczepanska, Natalia
- Novokmet, Natalija
- Satake, Takashi
- Scheffler, Christiane
- Soderhall, Jani
- Suchomlinov, Andrej
- Tutkuviene, Janina
- Wit, Jan M
- Witwer-Backofen, Ursula
- Yestrebsky, Cherie Lynn
Producer: 20150602
In:
Pediatric endocrinology reviews : PER vol. 12
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168.
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Copy number variants in patients with short stature. [electronic resource] by
- van Duyvenvoorde, Hermine A
- Lui, Julian C
- Kant, Sarina G
- Oostdijk, Wilma
- Gijsbers, Antoinet C J
- Hoffer, Mariëtte J V
- Karperien, Marcel
- Walenkamp, Marie J E
- Noordam, Cees
- Voorhoeve, Paul G
- Mericq, Verónica
- Pereira, Alberto M
- Claahsen-van de Grinten, Hedi L
- van Gool, Sandy A
- Breuning, Martijn H
- Losekoot, Monique
- Baron, Jeffrey
- Ruivenkamp, Claudia A L
- Wit, Jan M
Producer: 20150126
In:
European journal of human genetics : EJHG vol. 22
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169.
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Mutations in TBL1X Are Associated With Central Hypothyroidism. [electronic resource] by
- Heinen, Charlotte A
- Losekoot, Monique
- Sun, Yu
- Watson, Peter J
- Fairall, Louise
- Joustra, Sjoerd D
- Zwaveling-Soonawala, Nitash
- Oostdijk, Wilma
- van den Akker, Erica L T
- Alders, Mariëlle
- Santen, Gijs W E
- van Rijn, Rick R
- Dreschler, Wouter A
- Surovtseva, Olga V
- Biermasz, Nienke R
- Hennekam, Raoul C
- Wit, Jan M
- Schwabe, John W R
- Boelen, Anita
- Fliers, Eric
- van Trotsenburg, A S Paul
Producer: 20170630
In:
The Journal of clinical endocrinology and metabolism vol. 101
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170.
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Karyotype-specific ear and hearing problems in young adults with Turner syndrome and the effect of oxandrolone treatment. [electronic resource] by
- Verver, Eva J J
- Freriks, Kim
- Sas, Theo C J
- Huygen, Patrick L M
- Pennings, Ronald J E
- Smeets, Dominique F C M
- Hermus, Ad R M M
- Menke, Leonie A
- Wit, Jan M
- Otten, Barto J
- van Alfen-van der Velden, Janiëlle A E M
- de Muinck Keizer-Schrama, Sabine M P F
- Topsakal, Vedat
- Admiraal, Ronald J C
- Timmers, Henri J L M
- Kunst, Henricus P M
Producer: 20150915
In:
Otology & neurotology : official publication of the American Otological Society, American Neurotology Society [and] European Academy of Otology and Neurotology vol. 35
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171.
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Consensus statement on the use of gonadotropin-releasing hormone analogs in children. [electronic resource] by
- Carel, Jean-Claude
- Eugster, Erica A
- Rogol, Alan
- Ghizzoni, Lucia
- Palmert, Mark R
- Antoniazzi, Franco
- Berenbaum, Sheri
- Bourguignon, Jean-Pierre
- Chrousos, George P
- Coste, Joël
- Deal, Sheri
- de Vries, Liat
- Foster, Carol
- Heger, Sabine
- Holland, Jack
- Jahnukainen, Kirsi
- Juul, Anders
- Kaplowitz, Paul
- Lahlou, Najiba
- Lee, Mary M
- Lee, Peter
- Merke, Deborah P
- Neely, E Kirk
- Oostdijk, Wilma
- Phillip, Moshe
- Rosenfield, Robert L
- Shulman, Dorothy
- Styne, Dennis
- Tauber, Maïthé
- Wit, Jan M
Producer: 20090428
In:
Pediatrics vol. 123
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172.
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Response to Letter to the Editor: "IGSF1 Deficiency Results in Human and Murine Somatotrope Neurosecretory Hyperfunction". [electronic resource] by
- Joustra, Sjoerd D
- Roelfsema, Ferdinand
- van Trotsenburg, A S Paul
- Schneider, Harald J
- Kosilek, Robert P
- Kroon, Herman M
- Logan, John G
- Butterfield, Natalie C
- Zhou, Xiang
- Toufaily, Chirine
- Bak, Beata
- Turgeon, Marc-Olivier
- Brûlé, Emilie
- Steyn, Frederik J
- Gurnell, Mark
- Koulouri, Olympia
- Le Tissier, Paul
- Fontanaud, Pierre
- Bassett, J H Duncan
- Williams, Graham R
- Oostdijk, Wilma
- Wit, Jan M
- Pereira, Alberto M
- Biermasz, Nienke R
- Bernard, Daniel J
- Schoenmakers, Nadia
Producer: 20210126
In:
The Journal of clinical endocrinology and metabolism vol. 105
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173.
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Genetic Analyses in Small-for-Gestational-Age Newborns. [electronic resource] by
- Stalman, Susanne E
- Solanky, Nita
- Ishida, Miho
- Alemán-Charlet, Cristina
- Abu-Amero, Sayeda
- Alders, Marielle
- Alvizi, Lucas
- Baird, William
- Demetriou, Charalambos
- Henneman, Peter
- James, Chela
- Knegt, Lia C
- Leon, Lydia J
- Mannens, Marcel M A M
- Mul, Adi N
- Nibbering, Nicole A
- Peskett, Emma
- Rezwan, Faisal I
- Ris-Stalpers, Carrie
- van der Post, Joris A M
- Kamp, Gerdine A
- Plötz, Frans B
- Wit, Jan M
- Stanier, Philip
- Moore, Gudrun E
- Hennekam, Raoul C
Producer: 20180604
In:
The Journal of clinical endocrinology and metabolism vol. 103
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174.
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Efficacy and safety of oxandrolone in growth hormone-treated girls with turner syndrome. [electronic resource] by
- Menke, Leonie A
- Sas, Theo C J
- de Muinck Keizer-Schrama, Sabine M P F
- Zandwijken, Gladys R J
- de Ridder, Maria A J
- Odink, Roelof J
- Jansen, Maarten
- Delemarre-van de Waal, Henriëtte A
- Stokvis-Brantsma, Wilhelmina H
- Waelkens, Johan J
- Westerlaken, Ciska
- Reeser, H Maarten
- van Trotsenburg, A S Paul
- Gevers, Evelien F
- van Buuren, Stef
- Dejonckere, Philippe H
- Hokken-Koelega, Anita C S
- Otten, Barto J
- Wit, Jan M
Producer: 20100331
In:
The Journal of clinical endocrinology and metabolism vol. 95
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175.
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Efficacy and safety of long-term continuous growth hormone treatment in children with Prader-Willi syndrome. [electronic resource] by
- de Lind van Wijngaarden, Roderick F A
- Siemensma, Elbrich P C
- Festen, Dederieke A M
- Otten, Barto J
- van Mil, Edgar G A H
- Rotteveel, Joost
- Odink, Roelof J H
- Bindels-de Heus, G C B Karen
- van Leeuwen, Mariëtte
- Haring, Danny A J P
- Bocca, Gianni
- Houdijk, E C A Mieke
- Hoorweg-Nijman, J J Gera
- Vreuls, René C F M
- Jira, Petr E
- van Trotsenburg, A S Paul
- Bakker, Boudewijn
- Schroor, Eelco J
- Pilon, Jan Willem
- Wit, Jan M
- Drop, Stenvert L S
- Hokken-Koelega, Anita C S
Producer: 20100107
In:
The Journal of clinical endocrinology and metabolism vol. 94
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176.
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Diagnosis, Genetics, and Therapy of Short Stature in Children: A Growth Hormone Research Society International Perspective. [electronic resource] by
- Collett-Solberg, Paulo F
- Ambler, Geoffrey
- Backeljauw, Philippe F
- Bidlingmaier, Martin
- Biller, Beverly M K
- Boguszewski, Margaret C S
- Cheung, Pik To
- Choong, Catherine Seut Yhoke
- Cohen, Laurie E
- Cohen, Pinchas
- Dauber, Andrew
- Deal, Cheri L
- Gong, Chunxiu
- Hasegawa, Yukihiro
- Hoffman, Andrew R
- Hofman, Paul L
- Horikawa, Reiko
- Jorge, Alexander A L
- Juul, Anders
- Kamenický, Peter
- Khadilkar, Vaman
- Kopchick, John J
- Kriström, Berit
- Lopes, Maria de Lurdes A
- Luo, Xiaoping
- Miller, Bradley S
- Misra, Madhusmita
- Netchine, Irene
- Radovick, Sally
- Ranke, Michael B
- Rogol, Alan D
- Rosenfeld, Ron G
- Saenger, Paul
- Wit, Jan M
- Woelfle, Joachim
Producer: 20200423
In:
Hormone research in paediatrics vol. 92
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177.
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Loss-of-function mutations in IGSF1 cause an X-linked syndrome of central hypothyroidism and testicular enlargement. [electronic resource] by
- Sun, Yu
- Bak, Beata
- Schoenmakers, Nadia
- van Trotsenburg, A S Paul
- Oostdijk, Wilma
- Voshol, Peter
- Cambridge, Emma
- White, Jacqueline K
- le Tissier, Paul
- Gharavy, S Neda Mousavy
- Martinez-Barbera, Juan P
- Stokvis-Brantsma, Wilhelmina H
- Vulsma, Thomas
- Kempers, Marlies J
- Persani, Luca
- Campi, Irene
- Bonomi, Marco
- Beck-Peccoz, Paolo
- Zhu, Hongdong
- Davis, Timothy M E
- Hokken-Koelega, Anita C S
- Del Blanco, Daria Gorbenko
- Rangasami, Jayanti J
- Ruivenkamp, Claudia A L
- Laros, Jeroen F J
- Kriek, Marjolein
- Kant, Sarina G
- Bosch, Cathy A J
- Biermasz, Nienke R
- Appelman-Dijkstra, Natasha M
- Corssmit, Eleonora P
- Hovens, Guido C J
- Pereira, Alberto M
- den Dunnen, Johan T
- Wade, Michael G
- Breuning, Martijn H
- Hennekam, Raoul C
- Chatterjee, Krishna
- Dattani, Mehul T
- Wit, Jan M
- Bernard, Daniel J
Producer: 20130213
In:
Nature genetics vol. 44
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178.
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The phenotype of Floating-Harbor syndrome: clinical characterization of 52 individuals with mutations in exon 34 of SRCAP. [electronic resource] by
- Nikkel, Sarah M
- Dauber, Andrew
- de Munnik, Sonja
- Connolly, Meghan
- Hood, Rebecca L
- Caluseriu, Oana
- Hurst, Jane
- Kini, Usha
- Nowaczyk, Malgorzata J M
- Afenjar, Alexandra
- Albrecht, Beate
- Allanson, Judith E
- Balestri, Paolo
- Ben-Omran, Tawfeg
- Brancati, Francesco
- Cordeiro, Isabel
- da Cunha, Bruna Santos
- Delaney, Louisa A
- Destrée, Anne
- Fitzpatrick, David
- Forzano, Francesca
- Ghali, Neeti
- Gillies, Greta
- Harwood, Katerina
- Hendriks, Yvonne M C
- Héron, Delphine
- Hoischen, Alexander
- Honey, Engela Magdalena
- Hoefsloot, Lies H
- Ibrahim, Jennifer
- Jacob, Claire M
- Kant, Sarina G
- Kim, Chong Ae
- Kirk, Edwin P
- Knoers, Nine V A M
- Lacombe, Didier
- Lee, Chung
- Lo, Ivan F M
- Lucas, Luiza S
- Mari, Francesca
- Mericq, Veronica
- Moilanen, Jukka S
- Møller, Sanne Traasdahl
- Moortgat, Stephanie
- Pilz, Daniela T
- Pope, Kate
- Price, Susan
- Renieri, Alessandra
- Sá, Joaquim
- Schoots, Jeroen
- Silveira, Elizabeth L
- Simon, Marleen E H
- Slavotinek, Anne
- Temple, I Karen
- van der Burgt, Ineke
- de Vries, Bert B A
- Weisfeld-Adams, James D
- Whiteford, Margo L
- Wierczorek, Dagmar
- Wit, Jan M
- Yee, Connie Fung On
- Beaulieu, Chandree L
- White, Sue M
- Bulman, Dennis E
- Bongers, Ernie
- Brunner, Han
- Feingold, Murray
- Boycott, Kym M
Producer: 20150330
In:
Orphanet journal of rare diseases vol. 8
Availability: No items available.
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