New mechanisms involved in paternal 20q disomy associated with pseudohypoparathyroidism

European Journal of Endocrinology

Volumn 163, Issue 6, 2010, Pages 953-962

  Fernández Rebollo, Eduardo ^a,h   Lecumberri, Beatriz ^b   Garin, Intza ^a,i   Arroyo, Javier ^c   Bernal Chico, Ana ^a   Goñi, Fernando ^d,ap   Orduña, Rosa ^e   Saez F ^j   Sanchez A ^j   Dominguez A ^k   Santana, A ^k   Ruiz, R ^l   Castro, L ^m   Rivas, C ⁿ   Perez O ^o   Molinos, S ^p   Gaztambide, S ^a   Moure, M D ^a   Vela, A ^a   Saez, R ^q   Unanue, G ^q   Menendez E ^r   Anda, A ^r   Pavia, C ^s   Diez Lopez, I ⁱ   Bonet, M ^t   Morales, M J ^u   Zapico, M ^v   Aguirre, M ^w   Munoz M T ^x   Rubio Cabezas, O ^x   Argente, J ^x   Audi, L ^y   Yeste, D ^y   Soriguer, F ^z   Garcia M ^aa   Rodriguez R M ^aa   Goni M J ^aa   Armenta, D ^ab   Gonzalez Duarte, D ^ab   Barrio, R ^ac   Camara A ^ad   Martorell, L ^ae   Suarez L ^ae   Cardona, R ^ae   Gean, E ^ae   Garcia Cuartero B ^af   Pereira, M S ^ag   Rodriguez B ^ag   Azriel, S ^ah   Jimenez J M ^ai   Sentchordi, L ^ai   Espino Aguilar, R ^aj   Beneyto, M ^ak   Alvarez C ^b   Luzuriaga, C ^al   Calvo, M T ^am   Labarta, J I ^am   Saavedra, P ^an   Canete Estrada R ^ao   Guillen Navarro, E ^ap   Guillen, C ^ap   Del Valle, J ^aq   Luque, I ^ar   Menendez A ^ar   Oyarzabal, M ^r   Castaño, Luis ^a,f,g   Pérez De Nanclares, Guiomar ^a,f,i   more..

^a HOSPITAL DE CRUCES   (Spain)

^b HOSPITAL UNIVERSITARIO LA PAZ   (Spain)

^c Service of Paediatrics   (Spain)

^d HOSPITAL DE BASURTO   (Spain)

^e HOSPITAL UNIVERSITARIO SAN CECILIO   (Spain)

^f CENTRO DE INVESTIGACIÓN BIOMÉDICA EN RED DE ENFERMEDADES RARAS CIBERER   (Spain)

^g UNIVERSITY OF THE BASQUE COUNTRY UPV EHU   (Spain)

^h MASSACHUSETTS GENERAL HOSPITAL   (United States)

ⁱ HOSPITAL TXAGORRITXU   (Spain)

^j Complejo Hospitalario Dr Negrin ^*  (Spain)

^k HOSPITAL UNIVERSITARIO INSULAR DE GRAN CANARIA   (Spain)

^l HOSPITAL GENERAL UNIVERSITARIO DE ALBACETE   (Spain)

^m HOSPITAL CLÍNICO UNIVERSITARIO   (Spain)

ⁿ HOSPITAL UNIVERSITARIO CENTRAL DE ASTURIAS   (Spain)

^o HOSPITAL CLÍNICO SAN CARLOS   (Spain)

^p Hospital de Barbanza   (Spain)

^q HOSPITAL DONOSTIA   (Spain)

^r Instituto de Investigación Sanitaria de Navarra   (Spain)

^s Hospital de Nens   (Spain)

^t HOSPITAL DEL MAR   (Spain)

^u HOSPITAL DO MEIXOEIRO   (Spain)

^v HOSPITAL GENERAL UNIVERSITARIO DE ALICANTE   (Spain)

^w HOSPITAL GENERAL UNIVERSITARIO DE CIUDAD REAL   (Spain)

^x HOSPITAL INFANTIL UNIVERSITARIO NIÑO JESÚS   (Spain)

^y HOSPITAL MATERNO INFANTIL VALL D HEBRON   (Spain)

^z HOSPITAL MATERNO INFANTIL   (Spain)

^aa Hospital Príncipe de Viana   (Spain)

^ab HOSPITAL UNIVERSITARIO PUERTA DEL MAR   (Spain)

^ac HOSPITAL RAMÓN Y CAJAL   (Spain)

^ad HOSPITAL SAN JORGE   (Spain)

^ae HOSPITAL SANT JOAN DE DÉU   (Spain)

^af HOSPITAL SEVERO OCHOA   (Spain)

^ag Hospital Teresa de Herrera   (Spain)

^ah HOSPITAL UNIVERSITARIO 12 DE OCTUBRE   (Spain)

^ai HOSPITAL UNIVERSITARIO DE GUADALAJARA   (Spain)

^aj HOSPITAL UNIVERSITARIO DE VALME   (Spain)

^ak HOSPITAL UNIVERSITARIO LA FE   (Spain)

^al HOSPITAL UNIVERSITARIO MARQUÉS DE VALDECILLA   (Spain)

^am HOSPITAL UNIVERSITARIO MIGUEL SERVET   (Spain)

^an HOSPITAL UNIVERSITARIO PRÍNCIPE DE ASTURIAS   (Spain)

^ao HOSPITAL UNIVERSITARIO REINA SOFÍA   (Spain)

^ap HOSPITAL GENERAL UNIVERSITARIO REINA SOFÍA   (Spain)

^aq HOSPITAL UNIVERSITARIO VIRGEN DEL ROCÍO   (Spain)

^ar HOSPITAL VIRGEN DE LA SALUD   (Spain)

more..

Author keywords

[No Author keywords available]

Indexed keywords

STIMULATORY GUANINE NUCLEOTIDE BINDING PROTEIN; GNAS PROTEIN, HUMAN; MICROSATELLITE DNA;

ADULT; ALBRIGHT SYNDROME; ALPHA CHAIN; ARTICLE; BECKWITH WIEDEMANN SYNDROME; CASE REPORT; CHILD; CHROMOSOME 20Q; CONTROLLED STUDY; DISEASE ASSOCIATION; FEMALE; GENE MUTATION; GENETIC RECOMBINATION; GENOME; GENOME IMPRINTING; HORMONE RESISTANCE; HUMAN; HUMAN CELL; HUMAN TISSUE; HYPERPHOSPHATEMIA; HYPOCALCEMIA; MALE; METHYLATION; MICROSATELLITE MARKER; MOLECULAR HYBRIDIZATION; PHENOTYPE; PRESCHOOL CHILD; PRIORITY JOURNAL; PSEUDOHYPOPARATHYROIDISM; SCHOOL CHILD; UNIPARENTAL DISOMY; CHROMOSOME 20; GENETICS; MIDDLE AGED; SINGLE NUCLEOTIDE POLYMORPHISM;

ADULT; CHILD, PRESCHOOL; CHROMOSOMES, HUMAN, PAIR 20; FEMALE; GTP-BINDING PROTEIN ALPHA SUBUNITS, GS; HUMANS; MALE; METHYLATION; MICROSATELLITE REPEATS; MIDDLE AGED; POLYMORPHISM, SINGLE NUCLEOTIDE; PSEUDOHYPOPARATHYROIDISM; UNIPARENTAL DISOMY;

EID: 78649826845     PISSN: 08044643     EISSN: 1479683X     Source Type: Journal    
DOI: 10.1530/EJE-10-0435     Document Type: Article

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