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161.
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Three-dimensional helical computed tomography in prenatal diagnosis of fetal skeletal dysplasia. [electronic resource] by
- Macé, G
- Sonigo, P
- Cormier-Daire, V
- Aubry, M-C
- Martinovic, J
- Elie, C
- Gonzales, M
- Carbonne, B
- Dumez, Y
- Le Merrer, M
- Brunelle, F
- Benachi, A
Producer: 20140310
In:
Ultrasound in obstetrics & gynecology : the official journal of the International Society of Ultrasound in Obstetrics and Gynecology vol. 42
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162.
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Stüve-Wiedemann syndrome: long-term follow-up and genetic heterogeneity. [electronic resource] by
- Jung, C
- Dagoneau, N
- Baujat, G
- Le Merrer, M
- David, A
- Di Rocco, M
- Hamel, B
- Mégarbané, A
- Superti-Furga, A
- Unger, S
- Munnich, A
- Cormier-Daire, V
Producer: 20100706
In:
Clinical genetics vol. 77
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163.
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Congenital lumbosacral lipomas. [electronic resource] by
- Pierre-Kahn, A
- Zerah, M
- Renier, D
- Cinalli, G
- Sainte-Rose, C
- Lellouch-Tubiana, A
- Brunelle, F
- Le Merrer, M
- Giudicelli, Y
- Pichon, J
- Kleinknecht, B
- Nataf, F
Producer: 19971023
In:
Child's nervous system : ChNS : official journal of the International Society for Pediatric Neurosurgery vol. 13
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164.
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In frame fibrillin-1 gene deletion in autosomal dominant Weill-Marchesani syndrome. [electronic resource] by
- Faivre, L
- Gorlin, R J
- Wirtz, M K
- Godfrey, M
- Dagoneau, N
- Samples, J R
- Le Merrer, M
- Collod-Beroud, G
- Boileau, C
- Munnich, A
- Cormier-Daire, V
Producer: 20030221
In:
Journal of medical genetics vol. 40
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165.
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A gene for Meckel syndrome maps to chromosome 11q13. [electronic resource] by
- Roume, J
- Genin, E
- Cormier-Daire, V
- Ma, H W
- Mehaye, B
- Attie, T
- Razavi-Encha, F
- Fallet-Bianco, C
- Buenerd, A
- Clerget-Darpoux, F
- Munnich, A
- Le Merrer, M
Producer: 19981204
In:
American journal of human genetics vol. 63
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166.
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Untreated growth hormone deficiency with extremely short stature, bone dysplasia, cleft lip--palate and severe mental retardation in a 26-year-old man with a de novo unbalanced translocation t(1;12)(q24;q24). [electronic resource] by
- Callier, P
- Faivre, L
- Marle, N
- Thauvin-Robinet, C
- Mosca, A L
- Masurel-Paulet, A
- Borgnon, J
- Falcon-Eicher, S
- Danino, A
- Malka, G
- Le Merrer, M
- Huet, F
- Mugneret, F
Producer: 20080311
In:
European journal of medical genetics vol. 50
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167.
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Clustering of mutations responsible for branchio-oto-renal (BOR) syndrome in the eyes absent homologous region (eyaHR) of EYA1. [electronic resource] by
- Abdelhak, S
- Kalatzis, V
- Heilig, R
- Compain, S
- Samson, D
- Vincent, C
- Levi-Acobas, F
- Cruaud, C
- Le Merrer, M
- Mathieu, M
- König, R
- Vigneron, J
- Weissenbach, J
- Petit, C
- Weil, D
Producer: 19980318
In:
Human molecular genetics vol. 6
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168.
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Linkage exclusion and mutational analysis of the noggin gene in patients with fibrodysplasia ossificans progressiva (FOP). [electronic resource] by
- Xu, M Q
- Feldman, G
- Le Merrer, M
- Shugart, Y Y
- Glaser, D L
- Urtizberea, J A
- Fardeau, M
- Connor, J M
- Triffitt, J
- Smith, R
- Shore, E M
- Kaplan, F S
Producer: 20010301
In:
Clinical genetics vol. 58
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169.
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Wide clinical variability among 13 new Cockayne syndrome cases confirmed by biochemical assays. [electronic resource] by
- Pasquier, L
- Laugel, V
- Lazaro, L
- Dollfus, H
- Journel, H
- Edery, P
- Goldenberg, A
- Martin, D
- Heron, D
- Le Merrer, M
- Rustin, P
- Odent, S
- Munnich, A
- Sarasin, A
- Cormier-Daire, V
Producer: 20060206
In:
Archives of disease in childhood vol. 91
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170.
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Increased paternal age in CHARGE association. [electronic resource] by
- Tellier, A L
- Lyonnet, S
- Cormier-Daire, V
- de Lonlay, P
- Abadie, V
- Baumann, C
- Bonneau, D
- Labrune, P
- Lacombe, D
- Le Merrer, M
- Nivelon, A
- Philip, N
- Briard, M L
- Munnich, A
Producer: 19970509
In:
Clinical genetics vol. 50
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171.
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Unexpected high frequency of skeletal dysplasia in idiopathic short stature and small for gestational age patients. [electronic resource] by
- Flechtner, I
- Lambot-Juhan, K
- Teissier, R
- Colmenares, A
- Baujat, G
- Beltrand, J
- Ajaltouni, Z
- Pauwels, C
- Pinto, G
- Samara-Boustani, D
- Simon, A
- Thalassinos, C
- Le Merrer, M
- Cormier-Daire, V
- Polak, M
Producer: 20140610
In:
European journal of endocrinology vol. 170
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172.
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Embryonic expression of the human MID1 gene and its mutations in Opitz syndrome. [electronic resource] by
- Pinson, L
- Augé, J
- Audollent, S
- Mattéi, G
- Etchevers, H
- Gigarel, N
- Razavi, F
- Lacombe, D
- Odent, S
- Le Merrer, M
- Amiel, J
- Munnich, A
- Meroni, G
- Lyonnet, S
- Vekemans, M
- Attié-Bitach, T
Producer: 20040716
In:
Journal of medical genetics vol. 41
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173.
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Acromicric dysplasia: long term outcome and evidence of autosomal dominant inheritance. [electronic resource] by
- Faivre, L
- Le Merrer, M
- Baumann, C
- Polak, M
- Chatelain, P
- Sulmont, V
- Cousin, J
- Bost, M
- Cordier, M P
- Zackai, E
- Russell, K
- Finidori, G
- Pouliquen, J C
- Munnich, A
- Maroteaux, P
- Cormier-Daire, V
Producer: 20020204
In:
Journal of medical genetics vol. 38
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174.
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Spectrum of NSD1 mutations in Sotos and Weaver syndromes. [electronic resource] by
- Rio, M
- Clech, L
- Amiel, J
- Faivre, L
- Lyonnet, S
- Le Merrer, M
- Odent, S
- Lacombe, D
- Edery, P
- Brauner, R
- Raoul, O
- Gosset, P
- Prieur, M
- Vekemans, M
- Munnich, A
- Colleaux, L
- Cormier-Daire, V
Producer: 20030707
In:
Journal of medical genetics vol. 40
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175.
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Automated fluorescent genotyping detects 10% of cryptic subtelomeric rearrangements in idiopathic syndromic mental retardation. [electronic resource] by
- Rio, M
- Molinari, F
- Heuertz, S
- Ozilou, C
- Gosset, P
- Raoul, O
- Cormier-Daire, V
- Amiel, J
- Lyonnet, S
- Le Merrer, M
- Turleau, C
- de Blois, M-C
- Prieur, M
- Romana, S
- Vekemans, M
- Munnich, A
- Colleaux, L
Producer: 20020517
In:
Journal of medical genetics vol. 39
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176.
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Large-scale deletions and SMADIP1 truncating mutations in syndromic Hirschsprung disease with involvement of midline structures. [electronic resource] by
- Amiel, J
- Espinosa-Parrilla, Y
- Steffann, J
- Gosset, P
- Pelet, A
- Prieur, M
- Boute, O
- Choiset, A
- Lacombe, D
- Philip, N
- Le Merrer, M
- Tanaka, H
- Till, M
- Touraine, R
- Toutain, A
- Vekemans, M
- Munnich, A
- Lyonnet, S
Producer: 20020110
In:
American journal of human genetics vol. 69
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177.
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Array-based comparative genomic hybridisation identifies high frequency of cryptic chromosomal rearrangements in patients with syndromic autism spectrum disorders. [electronic resource] by
- Jacquemont, M-L
- Sanlaville, D
- Redon, R
- Raoul, O
- Cormier-Daire, V
- Lyonnet, S
- Amiel, J
- Le Merrer, M
- Heron, D
- de Blois, M-C
- Prieur, M
- Vekemans, M
- Carter, N P
- Munnich, A
- Colleaux, L
- Philippe, A
Producer: 20061215
In:
Journal of medical genetics vol. 43
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178.
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Genome-wide screening using automated fluorescent genotyping to detect cryptic cytogenetic abnormalities in children with idiopathic syndromic mental retardation. [electronic resource] by
- Borck, G
- Rio, M
- Sanlaville, D
- Redon, R
- Molinari, F
- Bacq, D
- Raoul, O
- Cormier-Daire, V
- Lyonnet, S
- Amiel, J
- Le Merrer, M
- de Blois, M-C
- Prieur, M
- Vekemans, M
- Carter, N P
- Munnich, A
- Colleaux, L
Producer: 20050224
In:
Clinical genetics vol. 66
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179.
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Characterization and prevalence of severe primary IGF1 deficiency in a large cohort of French children with short stature. [electronic resource] by
- Teissier, R
- Flechtner, I
- Colmenares, A
- Lambot-Juhan, K
- Baujat, G
- Pauwels, C
- Samara-Boustani, D
- Beltrand, J
- Simon, A
- Thalassinos, C
- Crosnier, H
- Latrech, H
- Pinto, G
- Le Merrer, M
- Cormier-Daire, V
- Souberbielle, J C
- Polak, M
Producer: 20140702
In:
European journal of endocrinology vol. 170
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180.
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The molecular basis of X-linked spondyloepiphyseal dysplasia tarda. [electronic resource] by
- Gedeon, A K
- Tiller, G E
- Le Merrer, M
- Heuertz, S
- Tranebjaerg, L
- Chitayat, D
- Robertson, S
- Glass, I A
- Savarirayan, R
- Cole, W G
- Rimoin, D L
- Kousseff, B G
- Ohashi, H
- Zabel, B
- Munnich, A
- Gecz, J
- Mulley, J C
Producer: 20010705
In:
American journal of human genetics vol. 68
Availability: No items available.
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