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Recurrent rearrangements in the proximal 15q11-q14 region: a new breakpoint cluster specific to unbalanced translocations. [electronic resource] by
- Mignon-Ravix, Cécile
- Depetris, Danielle
- Luciani, Judith J
- Cuoco, Cristina
- Krajewska-Walasek, Malgorzata
- Missirian, Chantal
- Collignon, Patrick
- Delobel, Bruno
- Croquette, Marie-Françoise
- Moncla, Anne
- Kroisel, Peter M
- Mattei, Marie-Geneviève
Producer: 20070622
In:
European journal of human genetics : EJHG vol. 15
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Metopic and sagittal synostosis in Greig cephalopolysyndactyly syndrome: five cases with intragenic mutations or complete deletions of GLI3. [electronic resource] by
- Hurst, Jane A
- Jenkins, Dagan
- Vasudevan, Pradeep C
- Kirchhoff, Maria
- Skovby, Flemming
- Rieubland, Claudine
- Gallati, Sabina
- Rittinger, Olaf
- Kroisel, Peter M
- Johnson, David
- Biesecker, Leslie G
- Wilkie, Andrew O M
Producer: 20111005
In:
European journal of human genetics : EJHG vol. 19
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Mutations in MECP2 exon 1 in classical Rett patients disrupt MECP2_e1 transcription, but not transcription of MECP2_e2. [electronic resource] by
- Gianakopoulos, Peter J
- Zhang, Yuzhi
- Pencea, Nela
- Orlic-Milacic, Marija
- Mittal, Kirti
- Windpassinger, Christian
- White, Sara-Jane
- Kroisel, Peter M
- Chow, Eva W C
- Saunders, Carol J
- Minassian, Berge A
- Vincent, John B
Producer: 20120522
In:
American journal of medical genetics. Part B, Neuropsychiatric genetics : the official publication of the International Society of Psychiatric Genetics vol. 159B
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Molecular karyotyping as a relevant diagnostic tool in children with growth retardation with Silver-Russell features. [electronic resource] by
- Spengler, Sabrina
- Begemann, Matthias
- Ortiz Brüchle, Nadina
- Baudis, Michael
- Denecke, Bernd
- Kroisel, Peter Michael
- Oehl-Jaschkowitz, Barbara
- Schulze, Bernd
- Raabe-Meyer, Gisela
- Spaich, Christiane
- Blümel, Peter
- Jauch, Anna
- Moog, Ute
- Zerres, Klaus
- Eggermann, Thomas
Producer: 20130110
In:
The Journal of pediatrics vol. 161
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Molecular and genomic studies of IMMP2L and mutation screening in autism and Tourette syndrome. [electronic resource] by
- Petek, Erwin
- Schwarzbraun, Thomas
- Noor, Abdul
- Patel, Megha
- Nakabayashi, Kazuhiko
- Choufani, Sanaa
- Windpassinger, Christian
- Stamenkovic, Mara
- Robertson, Mary M
- Aschauer, Harald N
- Gurling, Hugh M D
- Kroisel, Peter M
- Wagner, Klaus
- Scherer, Stephen W
- Vincent, John B
Producer: 20070222
In:
Molecular genetics and genomics : MGG vol. 277
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Autosomal Recessive Keratoderma-Ichthyosis-Deafness (ARKID) Syndrome Is Caused by VPS33B Mutations Affecting Rab Protein Interaction and Collagen Modification. [electronic resource] by
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- Rogerson, Clare
- Windpassinger, Christian
- Banushi, Blerida
- Straatman-Iwanowska, Anna
- Hanley, Joanna
- Forneris, Federico
- Strohal, Robert
- Ulz, Peter
- Crumrine, Debra
- Menon, Gopinathan K
- Blunder, Stefan
- Schmuth, Matthias
- Müller, Thomas
- Smith, Holly
- Mills, Kevin
- Kroisel, Peter
- Janecke, Andreas R
- Gissen, Paul
Producer: 20170719
In:
The Journal of investigative dermatology vol. 137
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Mutations in endothelin 1 cause recessive auriculocondylar syndrome and dominant isolated question-mark ears. [electronic resource] by
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- Petit, Florence
- Kroisel, Peter M
- Jakobsen, Linda
- Zechi-Ceide, Roseli Maria
- Oufadem, Myriam
- Bole-Feysot, Christine
- Pruvost, Solenn
- Masson, Cécile
- Tores, Frédéric
- Hieu, Thierry
- Nitschké, Patrick
- Lindholm, Pernille
- Pellerin, Philippe
- Guion-Almeida, Maria Leine
- Kokitsu-Nakata, Nancy Mizue
- Vendramini-Pittoli, Siulan
- Munnich, Arnold
- Lyonnet, Stanislas
- Holder-Espinasse, Muriel
- Amiel, Jeanne
Producer: 20140212
In:
American journal of human genetics vol. 93
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Problems in detecting mosaic DNA methylation in Angelman syndrome. [electronic resource] by
- Horsthemke, Bernhard
- Lich, Christina
- Buiting, Karin
- Achmann, Roland
- Aulehla-Scholz, Christa
- Baumer, Alessandra
- Bürger, Joachim
- Dworniczak, Bernd
- Gläser, Dieter
- Holinski-Feder, Elke
- Janssen, Bart
- Kleinle, Stephanie
- Kochhan, Lothar
- Krasemann, Ernst
- Kraus, Cornelia
- Kroisel, Peter
- Plendl, Hansjörg
- Purmann, Sabine
- Sander, Gabriele
- Skladny, Heyko
- Spitzer, Eva
- Thamm-Mücke, Barbara
- Varon-Mateeva, Raymonda
- Weinhäusel, Andreas
- Weirich, Helga
Producer: 20040819
In:
European journal of human genetics : EJHG vol. 11
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High mutation detection rates in cerebral cavernous malformation upon stringent inclusion criteria: one-third of probands are minors. [electronic resource] by
- Spiegler, Stefanie
- Najm, Juliane
- Liu, Jian
- Gkalympoudis, Stephanie
- Schröder, Winnie
- Borck, Guntram
- Brockmann, Knut
- Elbracht, Miriam
- Fauth, Christine
- Ferbert, Andreas
- Freudenberg, Leonie
- Grasshoff, Ute
- Hellenbroich, Yorck
- Henn, Wolfram
- Hoffjan, Sabine
- Hüning, Irina
- Korenke, G Christoph
- Kroisel, Peter M
- Kunstmann, Erdmute
- Mair, Martina
- Munk-Schulenburg, Susanne
- Nikoubashman, Omid
- Pauli, Silke
- Rudnik-Schöneborn, Sabine
- Sudholt, Irene
- Sure, Ulrich
- Tinschert, Sigrid
- Wiednig, Michaela
- Zoll, Barbara
- Ginsberg, Mark H
- Felbor, Ute
Producer: 20140401
In:
Molecular genetics & genomic medicine vol. 2
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CLMP is required for intestinal development, and loss-of-function mutations cause congenital short-bowel syndrome. [electronic resource] by
- Van Der Werf, Christine S
- Wabbersen, Tara D
- Hsiao, Nai-Hua
- Paredes, Joana
- Etchevers, Heather C
- Kroisel, Peter M
- Tibboel, Dick
- Babarit, Candice
- Schreiber, Richard A
- Hoffenberg, Edward J
- Vekemans, Michel
- Zeder, Sirkka L
- Ceccherini, Isabella
- Lyonnet, Stanislas
- Ribeiro, Ana S
- Seruca, Raquel
- Te Meerman, Gerard J
- van Ijzendoorn, Sven C D
- Shepherd, Iain T
- Verheij, Joke B G M
- Hofstra, Robert M W
Producer: 20120509
In:
Gastroenterology vol. 142
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New mutations in the ATM gene and clinical data of 25 AT patients. [electronic resource] by
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- Dutrannoy, Véronique
- Marques, Wilson
- Neitzel, Heidemarie
- Schindler, Detlev
- Dimova, Petja S
- Chrzanowska, Krystyna H
- Bojinova, Veneta
- Gregorek, Hanna
- Graul-Neumann, Luitgard M
- von Moers, Arpad
- Schulze, Ilka
- Nicke, Marion
- Bora, Elcin
- Cankaya, Tufan
- Oláh, Éva
- Kiss, Csongor
- Bessenyei, Beáta
- Szakszon, Katalin
- Gruber-Sedlmayr, Ursula
- Kroisel, Peter Michael
- Sodia, Sigrun
- Goecke, Timm O
- Dörk, Thilo
- Digweed, Martin
- Sperling, Karl
- de Sá, Joaquim
- Lourenco, Charles Marques
- Varon, Raymonda
Producer: 20120330
In:
Neurogenetics vol. 12
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Recessive mutations in EPG5 cause Vici syndrome, a multisystem disorder with defective autophagy. [electronic resource] by
- Cullup, Thomas
- Kho, Ay Lin
- Dionisi-Vici, Carlo
- Brandmeier, Birgit
- Smith, Frances
- Urry, Zoe
- Simpson, Michael A
- Yau, Shu
- Bertini, Enrico
- McClelland, Verity
- Al-Owain, Mohammed
- Koelker, Stefan
- Koerner, Christian
- Hoffmann, Georg F
- Wijburg, Frits A
- ten Hoedt, Amber E
- Rogers, R Curtis
- Manchester, David
- Miyata, Rie
- Hayashi, Masaharu
- Said, Elizabeth
- Soler, Doriette
- Kroisel, Peter M
- Windpassinger, Christian
- Filloux, Francis M
- Al-Kaabi, Salwa
- Hertecant, Jozef
- Del Campo, Miguel
- Buk, Stefan
- Bodi, Istvan
- Goebel, Hans-Hilmar
- Sewry, Caroline A
- Abbs, Stephen
- Mohammed, Shehla
- Josifova, Dragana
- Gautel, Mathias
- Jungbluth, Heinz
Producer: 20130222
In:
Nature genetics vol. 45
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Heterogeneity of mutational mechanisms and modes of inheritance in auriculocondylar syndrome. [electronic resource] by
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- Vuillot, Alice
- Marlin, Sandrine
- Gerkes, Erica
- Henderson, Alex
- AlKindy, Adila
- Holder-Espinasse, Muriel
- Park, Sarah S
- Omarjee, Asma
- Sanchis-Borja, Mateo
- Bdira, Eya Ben
- Oufadem, Myriam
- Sikkema-Raddatz, Birgit
- Stewart, Alison
- Palmer, Rodger
- McGowan, Ruth
- Petit, Florence
- Delobel, Bruno
- Speicher, Michael R
- Aurora, Paul
- Kilner, David
- Pellerin, Philippe
- Simon, Marie
- Bonnefont, Jean-Paul
- Tobias, Edward S
- García-Miñaúr, Sixto
- Bitner-Glindzicz, Maria
- Lindholm, Pernille
- Meijer, Brigitte A
- Abadie, Véronique
- Denoyelle, Françoise
- Vazquez, Marie-Paule
- Rotky-Fast, Christa
- Couloigner, Vincent
- Pierrot, Sébastien
- Manach, Yves
- Breton, Sylvain
- Hendriks, Yvonne M C
- Munnich, Arnold
- Jakobsen, Linda
- Kroisel, Peter
- Lin, Angela
- Kaban, Leonard B
- Basel-Vanagaite, Lina
- Wilson, Louise
- Cunningham, Michael L
- Lyonnet, Stanislas
- Amiel, Jeanne
Producer: 20131125
In:
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Human chromosome 7: DNA sequence and biology. [electronic resource] by
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- Cheung, Joseph
- MacDonald, Jeffrey R
- Osborne, Lucy R
- Nakabayashi, Kazuhiko
- Herbrick, Jo-Anne
- Carson, Andrew R
- Parker-Katiraee, Layla
- Skaug, Jennifer
- Khaja, Razi
- Zhang, Junjun
- Hudek, Alexander K
- Li, Martin
- Haddad, May
- Duggan, Gavin E
- Fernandez, Bridget A
- Kanematsu, Emiko
- Gentles, Simone
- Christopoulos, Constantine C
- Choufani, Sanaa
- Kwasnicka, Dorota
- Zheng, Xiangqun H
- Lai, Zhongwu
- Nusskern, Deborah
- Zhang, Qing
- Gu, Zhiping
- Lu, Fu
- Zeesman, Susan
- Nowaczyk, Malgorzata J
- Teshima, Ikuko
- Chitayat, David
- Shuman, Cheryl
- Weksberg, Rosanna
- Zackai, Elaine H
- Grebe, Theresa A
- Cox, Sarah R
- Kirkpatrick, Susan J
- Rahman, Nazneen
- Friedman, Jan M
- Heng, Henry H Q
- Pelicci, Pier Giuseppe
- Lo-Coco, Francesco
- Belloni, Elena
- Shaffer, Lisa G
- Pober, Barbara
- Morton, Cynthia C
- Gusella, James F
- Bruns, Gail A P
- Korf, Bruce R
- Quade, Bradley J
- Ligon, Azra H
- Ferguson, Heather
- Higgins, Anne W
- Leach, Natalia T
- Herrick, Steven R
- Lemyre, Emmanuelle
- Farra, Chantal G
- Kim, Hyung-Goo
- Summers, Anne M
- Gripp, Karen W
- Roberts, Wendy
- Szatmari, Peter
- Winsor, Elizabeth J T
- Grzeschik, Karl-Heinz
- Teebi, Ahmed
- Minassian, Berge A
- Kere, Juha
- Armengol, Lluis
- Pujana, Miguel Angel
- Estivill, Xavier
- Wilson, Michael D
- Koop, Ben F
- Tosi, Sabrina
- Moore, Gudrun E
- Boright, Andrew P
- Zlotorynski, Eitan
- Kerem, Batsheva
- Kroisel, Peter M
- Petek, Erwin
- Oscier, David G
- Mould, Sarah J
- Döhner, Hartmut
- Döhner, Konstanze
- Rommens, Johanna M
- Vincent, John B
- Venter, J Craig
- Li, Peter W
- Mural, Richard J
- Adams, Mark D
- Tsui, Lap-Chee
Producer: 20030527
In:
Science (New York, N.Y.) vol. 300
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies. [electronic resource] by
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- Brand, Harrison
- Collins, Ryan L
- Kammin, Tammy
- Mitchell, Elyse
- Hodge, Jennelle C
- Hanscom, Carrie
- Pillalamarri, Vamsee
- Seabra, Catarina M
- Abbott, Mary-Alice
- Abdul-Rahman, Omar A
- Aberg, Erika
- Adley, Rhett
- Alcaraz-Estrada, Sofia L
- Alkuraya, Fowzan S
- An, Yu
- Anderson, Mary-Anne
- Antolik, Caroline
- Anyane-Yeboa, Kwame
- Atkin, Joan F
- Bartell, Tina
- Bernstein, Jonathan A
- Beyer, Elizabeth
- Blumenthal, Ian
- Bongers, Ernie M H F
- Brilstra, Eva H
- Brown, Chester W
- Brüggenwirth, Hennie T
- Callewaert, Bert
- Chiang, Colby
- Corning, Ken
- Cox, Helen
- Cuppen, Edwin
- Currall, Benjamin B
- Cushing, Tom
- David, Dezso
- Deardorff, Matthew A
- Dheedene, Annelies
- D'Hooghe, Marc
- de Vries, Bert B A
- Earl, Dawn L
- Ferguson, Heather L
- Fisher, Heather
- FitzPatrick, David R
- Gerrol, Pamela
- Giachino, Daniela
- Glessner, Joseph T
- Gliem, Troy
- Grady, Margo
- Graham, Brett H
- Griffis, Cristin
- Gripp, Karen W
- Gropman, Andrea L
- Hanson-Kahn, Andrea
- Harris, David J
- Hayden, Mark A
- Hill, Rosamund
- Hochstenbach, Ron
- Hoffman, Jodi D
- Hopkin, Robert J
- Hubshman, Monika W
- Innes, A Micheil
- Irons, Mira
- Irving, Melita
- Jacobsen, Jessie C
- Janssens, Sandra
- Jewett, Tamison
- Johnson, John P
- Jongmans, Marjolijn C
- Kahler, Stephen G
- Koolen, David A
- Korzelius, Jerome
- Kroisel, Peter M
- Lacassie, Yves
- Lawless, William
- Lemyre, Emmanuelle
- Leppig, Kathleen
- Levin, Alex V
- Li, Haibo
- Li, Hong
- Liao, Eric C
- Lim, Cynthia
- Lose, Edward J
- Lucente, Diane
- Macera, Michael J
- Manavalan, Poornima
- Mandrile, Giorgia
- Marcelis, Carlo L
- Margolin, Lauren
- Mason, Tamara
- Masser-Frye, Diane
- McClellan, Michael W
- Mendoza, Cinthya J Zepeda
- Menten, Björn
- Middelkamp, Sjors
- Mikami, Liya R
- Moe, Emily
- Mohammed, Shehla
- Mononen, Tarja
- Mortenson, Megan E
- Moya, Graciela
- Nieuwint, Aggie W
- Ordulu, Zehra
- Parkash, Sandhya
- Pauker, Susan P
- Pereira, Shahrin
- Perrin, Danielle
- Phelan, Katy
- Aguilar, Raul E Piña
- Poddighe, Pino J
- Pregno, Giulia
- Raskin, Salmo
- Reis, Linda
- Rhead, William
- Rita, Debra
- Renkens, Ivo
- Roelens, Filip
- Ruliera, Jayla
- Rump, Patrick
- Schilit, Samantha L P
- Shaheen, Ranad
- Sparkes, Rebecca
- Spiegel, Erica
- Stevens, Blair
- Stone, Matthew R
- Tagoe, Julia
- Thakuria, Joseph V
- van Bon, Bregje W
- van de Kamp, Jiddeke
- van Der Burgt, Ineke
- van Essen, Ton
- van Ravenswaaij-Arts, Conny M
- van Roosmalen, Markus J
- Vergult, Sarah
- Volker-Touw, Catharina M L
- Warburton, Dorothy P
- Waterman, Matthew J
- Wiley, Susan
- Wilson, Anna
- Yerena-de Vega, Maria de la Concepcion A
- Zori, Roberto T
- Levy, Brynn
- Brunner, Han G
- de Leeuw, Nicole
- Kloosterman, Wigard P
- Thorland, Erik C
- Morton, Cynthia C
- Gusella, James F
- Talkowski, Michael E
Producer: 20170907
In:
Nature genetics vol. 49
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Mirror extreme BMI phenotypes associated with gene dosage at the chromosome 16p11.2 locus. [electronic resource] by
- Jacquemont, Sébastien
- Reymond, Alexandre
- Zufferey, Flore
- Harewood, Louise
- Walters, Robin G
- Kutalik, Zoltán
- Martinet, Danielle
- Shen, Yiping
- Valsesia, Armand
- Beckmann, Noam D
- Thorleifsson, Gudmar
- Belfiore, Marco
- Bouquillon, Sonia
- Campion, Dominique
- de Leeuw, Nicole
- de Vries, Bert B A
- Esko, Tõnu
- Fernandez, Bridget A
- Fernández-Aranda, Fernando
- Fernández-Real, José Manuel
- Gratacòs, Mònica
- Guilmatre, Audrey
- Hoyer, Juliane
- Jarvelin, Marjo-Riitta
- Kooy, R Frank
- Kurg, Ants
- Le Caignec, Cédric
- Männik, Katrin
- Platt, Orah S
- Sanlaville, Damien
- Van Haelst, Mieke M
- Villatoro Gomez, Sergi
- Walha, Faida
- Wu, Bai-Lin
- Yu, Yongguo
- Aboura, Azzedine
- Addor, Marie-Claude
- Alembik, Yves
- Antonarakis, Stylianos E
- Arveiler, Benoît
- Barth, Magalie
- Bednarek, Nathalie
- Béna, Frédérique
- Bergmann, Sven
- Beri, Mylène
- Bernardini, Laura
- Blaumeiser, Bettina
- Bonneau, Dominique
- Bottani, Armand
- Boute, Odile
- Brunner, Han G
- Cailley, Dorothée
- Callier, Patrick
- Chiesa, Jean
- Chrast, Jacqueline
- Coin, Lachlan
- Coutton, Charles
- Cuisset, Jean-Marie
- Cuvellier, Jean-Christophe
- David, Albert
- de Freminville, Bénédicte
- Delobel, Bruno
- Delrue, Marie-Ange
- Demeer, Bénédicte
- Descamps, Dominique
- Didelot, Gérard
- Dieterich, Klaus
- Disciglio, Vittoria
- Doco-Fenzy, Martine
- Drunat, Séverine
- Duban-Bedu, Bénédicte
- Dubourg, Christèle
- El-Sayed Moustafa, Julia S
- Elliott, Paul
- Faas, Brigitte H W
- Faivre, Laurence
- Faudet, Anne
- Fellmann, Florence
- Ferrarini, Alessandra
- Fisher, Richard
- Flori, Elisabeth
- Forer, Lukas
- Gaillard, Dominique
- Gerard, Marion
- Gieger, Christian
- Gimelli, Stefania
- Gimelli, Giorgio
- Grabe, Hans J
- Guichet, Agnès
- Guillin, Olivier
- Hartikainen, Anna-Liisa
- Heron, Délphine
- Hippolyte, Loyse
- Holder, Muriel
- Homuth, Georg
- Isidor, Bertrand
- Jaillard, Sylvie
- Jaros, Zdenek
- Jiménez-Murcia, Susana
- Helas, Géraldine Joly
- Jonveaux, Philippe
- Kaksonen, Satu
- Keren, Boris
- Kloss-Brandstätter, Anita
- Knoers, Nine V A M
- Koolen, David A
- Kroisel, Peter M
- Kronenberg, Florian
- Labalme, Audrey
- Landais, Emilie
- Lapi, Elisabetta
- Layet, Valérie
- Legallic, Solenn
- Leheup, Bruno
- Leube, Barbara
- Lewis, Suzanne
- Lucas, Josette
- MacDermot, Kay D
- Magnusson, Pall
- Marshall, Christian
- Mathieu-Dramard, Michèle
- McCarthy, Mark I
- Meitinger, Thomas
- Mencarelli, Maria Antonietta
- Merla, Giuseppe
- Moerman, Alexandre
- Mooser, Vincent
- Morice-Picard, Fanny
- Mucciolo, Mafalda
- Nauck, Matthias
- Ndiaye, Ndeye Coumba
- Nordgren, Ann
- Pasquier, Laurent
- Petit, Florence
- Pfundt, Rolph
- Plessis, Ghislaine
- Rajcan-Separovic, Evica
- Ramelli, Gian Paolo
- Rauch, Anita
- Ravazzolo, Roberto
- Reis, Andre
- Renieri, Alessandra
- Richart, Cristobal
- Ried, Janina S
- Rieubland, Claudine
- Roberts, Wendy
- Roetzer, Katharina M
- Rooryck, Caroline
- Rossi, Massimiliano
- Saemundsen, Evald
- Satre, Véronique
- Schurmann, Claudia
- Sigurdsson, Engilbert
- Stavropoulos, Dimitri J
- Stefansson, Hreinn
- Tengström, Carola
- Thorsteinsdóttir, Unnur
- Tinahones, Francisco J
- Touraine, Renaud
- Vallée, Louis
- van Binsbergen, Ellen
- Van der Aa, Nathalie
- Vincent-Delorme, Catherine
- Visvikis-Siest, Sophie
- Vollenweider, Peter
- Völzke, Henry
- Vulto-van Silfhout, Anneke T
- Waeber, Gérard
- Wallgren-Pettersson, Carina
- Witwicki, Robert M
- Zwolinksi, Simon
- Andrieux, Joris
- Estivill, Xavier
- Gusella, James F
- Gustafsson, Omar
- Metspalu, Andres
- Scherer, Stephen W
- Stefansson, Kari
- Blakemore, Alexandra I F
- Beckmann, Jacques S
- Froguel, Philippe
Producer: 20120125
In:
Nature vol. 478
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